https://ambrygen.com/science/peer-reviewed-publications 2026-08-03T13:03:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/2/associations-between-cancer-predisposition-testing-panel-genes-and-breast-cancer 2017-06-21T20:36:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/5/mutations-in-rasa1-and-gdf2-identified-in-patients-with-clinical-features-of-hereditary-hemorrhagic-telangiectasia 2017-06-22T16:26:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/6/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders 2017-06-22T16:32:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/7/classification-of-genes-standardized-clinical-validity-assessment-of-gene-disease-associations-aids-diagnostic-exome-analysis-and-reclassifications 2017-06-22T16:34:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/8/characterization-of-a-caveolin-1-mutation-associated-with-both-pah-and-congenital-generalized-lipodystrophy 2017-06-22T16:38:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/9/candidate-gene-criteria-for-clinical-reporting-diagnostic-exome-sequencing-identifies-altered-candidate-genes-among-8-of-patients-with-undiagnosed-diseases 2017-06-22T16:45:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/10/diagnostic-exome-sequencing-provides-a-molecular-diagnosis-for-a-significant-proportion-of-patients-with-epilepsy 2017-06-22T16:47:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/11/diagnostic-exome-sequencing-identifies-a-novel-gene-emilin1-associated-with-autosomal-dominant-hereditary-connective-tissue-disease 2017-06-22T16:53:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/12/diagnostic-exome-sequencing-for-patients-with-a-family-history-of-consanguinity-over-38-of-positive-results-are-not-autosomal-recessive-pattern 2017-06-22T16:57:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/13/clingen-and-genetic-testing 2017-06-22T16:59:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/14/exome-sequencing-positively-identified-relevant-alterations-in-more-than-half-of-cases-with-an-indication-of-prenatal-ultrasound-anomalies 2017-06-22T17:00:34+00:00 https://ambrygen.com/science/peer-reviewed-publication/15/whole-exome-sequencing-as-a-diagnostic-tool-in-a-family-with-episodic-ataxia-type-1 2017-06-22T17:03:37+00:00 https://ambrygen.com/science/peer-reviewed-publication/16/progressive-movement-disorder-in-brothers-carrying-a-gnao1-mutation-responsive-to-deep-brain-stimulation 2017-06-22T17:05:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/17/new-insights-into-the-genetics-of-fetal-megacystis-actg2-mutations-encoding-%ce%b3-2-smooth-muscle-actin-in-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-berdon-syndrome 2017-06-22T17:08:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/18/elp2-is-a-novel-gene-implicated-in-neurodevelopmental-disabilities 2017-06-22T17:12:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/19/congenital-lethal-motor-neuron-disease-with-a-novel-defect-in-ribosome-biogenesis 2017-06-22T17:14:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/20/expanding-the-clinical-and-mutational-spectrum-of-kaufman-oculocerebrofacial-syndrome-with-biallelic-ube3b-mutations 2017-06-22T17:16:35+00:00 https://ambrygen.com/science/peer-reviewed-publication/21/enhanced-utility-of-family-centered-diagnostic-exome-sequencing-with-inheritance-model-based-analysis-results-from-500-unselected-families-with-undiagnosed-genetic-conditions 2017-06-22T17:18:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/22/diagnostic-exome-sequencing-and-tailored-bioinformatics-of-the-parents-of-a-deceased-child-with-cobalamin-deficiency-suggests-digenic-inheritance-of-the-mtr-and-lmbrd1-genes 2017-06-22T17:20:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/23/diagnostic-exome-sequencing-identifies-two-novel-iqsec2-mutations-associated-with-x-linked-intellectual-disability-with-seizures-implications-for-genetic-counseling-and-clinical-diagnosis 2017-06-22T17:21:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/24/patient-decisions-for-disclosure-of-secondary-findings-among-the-first-200-individuals-undergoing-clinical-diagnostic-exome-sequencing 2017-06-22T17:22:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/25/a-human-de-novo-mutation-in-myh10-phenocopies-the-loss-of-function-mutation-in-mice 2017-06-22T17:25:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/26/mutation-in-snap25-as-a-novel-genetic-cause-of-epilepsy-and-intellectual-disability 2017-06-22T17:26:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/27/combined-genetic-and-splicing-analysis-of-brca1-c-594-2ac-641ag-highlights-the-relevance-of-naturally-occurring-in-frame-transcripts-for-developing-disease-gene-variant-classification-algorithms 2017-06-22T17:30:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/28/next-generation-sequencing-and-applications-to-the-diagnosis-and-treatment-of-lung-cancer 2017-06-22T17:43:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/29/response-to-cragun-et-al 2017-06-22T17:45:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/30/rescreening-for-genetic-mutations-using-multi-gene-panel-testing-in-patients-who-previously-underwent-non-informative-genetic-screening 2017-06-22T17:47:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/31/patient-experiences-living-with-pancreatic-cancer-risk 2017-06-22T17:52:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/32/the-importance-of-proper-bioinformatics-analysis-and-clinical-interpretation-of-tumor-genomic-profiling-a-case-study-of-undifferentiated-sarcoma-and-a-constitutional-pathogenic-brca2-mutation-and-an 2017-06-23T10:51:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/33/isolated-trisomy-2-in-bone-marrows-of-patients-with-suspected-hematopoietic-malignancies 2017-06-23T10:55:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/34/processed-pseudogene-confounding-deletion-duplication-assays-for-smad4 2017-06-23T11:02:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/35/germline-variants-in-cancer-genes-in-high-risk-non-brca-patients-from-puerto-rico 2017-06-23T11:10:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/36/hereditary-predisposition-to-ovarian-cancer-looking-beyond-brca1-brca2 2017-06-23T11:14:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/38/the-validation-and-clinical-implementation-of-brcaplus-a-comprehensive-high-risk-breast-cancer-diagnostic-assay 2017-06-23T11:22:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/39/utilization-of-multigene-panels-in-hereditary-cancer-predisposition-testing-analysis-of-more-than-2000-patients 2017-06-23T11:29:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/40/panel-based-testing-for-inherited-colorectal-cancer-a-descriptive-study-of-clinical-testing-performed-by-a-u-s-laboratory 2017-06-23T11:32:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/41/genetic-and-clinical-determinants-of-constitutional-mismatch-repair-deficiency-syndrome-report-from-the-constitutional-mismatch-repair-deficiency-consortium 2017-06-23T11:42:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/42/factors-which-impact-the-delivery-of-genetic-risk-assessment-services-focused-on-inherited-cancer-genomics-expanding-the-role-and-reach-of-certified-genetics-professionals 2017-06-23T11:46:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/43/beyond-dna-an-integrated-and-functional-approach-for-classifying-germline-variants-in-breast-cancer-genes 2017-06-23T12:48:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/45/molecular-testing-for-cystic-fibrosis-carrier-status-practice-guidelines-recommendations-of-the-national-society-of-genetic-counselors 2017-06-23T16:16:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/47/novel-cftr-variants-identified-during-the-first-3-years-of-cystic-fibrosis-newborn-screening-in-california 2017-06-23T16:25:24+00:00 https://ambrygen.com/science/peer-reviewed-publication/48/impact-of-ivs8-tgmtn-on-irt-and-sweat-chloride-levels-in-newborns-identified-by-california-cf-newborn-screening 2017-06-23T16:29:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/53/the-role-of-the-f508c-mutation-in-congenital-bilateral-absence-of-the-vas-deferens 2017-06-23T16:38:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/56/comprehensive-genetic-analysis-of-the-cystic-fibrosis-transmembrane-conductance-regulator-from-dried-blood-specimens-implications-for-newborn-screening 2017-06-23T16:44:30+00:00 https://ambrygen.com/science/peer-reviewed-publication/57/diagnostic-testing-by-cftr-gene-mutation-analysis-in-a-large-group-of-hispanics-novel-mutations-and-assessment-of-a-population-specific-mutation-spectrum 2017-06-23T16:46:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/59/improved-detection-of-cystic-fibrosis-mutations-in-infertility-patients-with-dna-sequence-analysis 2017-06-23T16:48:36+00:00 https://ambrygen.com/science/peer-reviewed-publication/63/array-cgh-is-an-effective-first-tier-diagnostic-test-for-eftud2-associated-congenital-mandibulofacial-dysostosis-with-microcephaly-mfdm 2017-06-23T16:52:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/65/clinical-report-of-a-17q12-microdeletion-with-additionally-unreported-clinical-features 2017-06-23T16:55:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/67/cltc-as-a-clinically-novel-gene-associated-with-multiple-malformations-and-developmental-delay 2017-06-23T16:56:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/71/pogz-truncating-alleles-cause-syndromic-intellectual-disability 2017-06-23T17:21:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/73/rodriguez-syndrome-with-sf3b4-mutation-a-severe-form-of-nager-syndrome 2017-06-23T17:23:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/75/magel2-related-disorders-a-study-and-case-series 2017-06-23T17:25:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/76/stxbp1-encephalopathy-a-neurodevelopmental-disorder-including-epilepsy 2017-06-23T17:26:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/77/identification-of-a-syndrome-comprising-microcephaly-and-intellectual-disability-but-not-white-matter-disease-associated-with-a-homozygous-c-676ct-p-r226w-deaf1-mutation 2017-06-23T17:33:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/78/germline-activating-mtor-mutation-arising-through-gonadal-mosaicism-in-two-brothers-with-megalencephaly-and-neurodevelopmental-abnormalities 2017-06-23T17:39:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/79/wac-loss-of-function-mutations-cause-a-recognisable-syndrome-characterised-by-dysmorphic-features-developmental-delay-and-hypotonia-and-recapitulate-10p11-23-microdeletion-syndrome 2017-06-23T17:41:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/80/development-of-a-genomic-dna-reference-material-panel-for-rett-syndrome-mecp2-related-disorders-genetic-testing 2017-06-23T17:45:07+00:00 https://ambrygen.com/science/peer-reviewed-publication/81/improving-the-molecular-diagnosis-and-treatment-of-epilepsy-with-complex-genetic-testing 2017-06-23T17:50:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/82/delineating-the-grin1-phenotypic-spectrum-a-distinct-genetic-nmda-receptor-encephalopathy 2017-06-23T17:54:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/83/three-cases-of-troyer-syndrome-in-two-families-of-filipino-descent 2017-06-23T17:59:09+00:00 https://ambrygen.com/science/peer-reviewed-publication/84/autosomal-recessive-mutations-in-thoc6-cause-intellectual-disability-syndrome-delineation-requiring-forward-and-reverse-phenotyping 2017-06-23T18:00:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/85/brat1-mutations-present-with-a-spectrum-of-clinical-severity 2017-06-23T18:03:17+00:00 https://ambrygen.com/science/peer-reviewed-publication/86/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy 2017-06-23T18:07:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/87/loss-of-function-of-the-retinoid-related-nuclear-receptor-rorb-gene-and-epilepsy 2017-06-23T18:16:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/88/comprehensive-functional-analysis-of-chymotrypsin-c-ctrc-variants-reveals-distinct-loss-of-function-mechanisms-associated-with-pancreatitis-risk 2017-06-23T18:19:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/90/sanger-confirmation-is-required-to-achieve-optimal-sensitivity-and-specificity-in-next-generation-sequencing-panel-testing 2017-06-23T18:30:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/91/functional-analysis-of-eight-missense-mutations-in-the-spink1-gene 2017-06-25T13:40:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/92/identification-of-cftr-prss1-and-spink1-mutations-in-381-patients-with-pancreatitis 2017-06-25T13:44:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/93/comparison-of-somatic-and-germline-variant-interpretation-in-hereditary-cancer-genes 2017-06-25T13:46:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/94/not-all-next-generation-sequencing-diagnostics-are-created-equal-understanding-the-nuances-of-solid-tumor-assay-design-for-somatic-mutation-detection 2017-06-25T13:49:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/95/high-resolution-genomic-profiling-of-chromosomal-abnormalities-in-human-stem-cells-using-the-135-k-stemarray 2017-06-25T13:51:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/96/array-comparative-genomic-hybridization-characterization-of-human-pluripotent-stem-cells 2017-06-25T13:53:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/97/rapid-detection-of-the-acmg-acog-recommended-23-cftr-disease-causing-mutations-using-ion-torrent-semiconductor-sequencing 2017-06-25T13:56:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/98/high-resolution-array-cgh-characterization-of-human-stem-cells-using-a-stem-cell-focused-microarray 2017-06-25T13:57:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/99/advances-in-the-diagnosis-of-hereditary-kidney-cancer-initial-results-of-a-multigene-panel-test 2017-08-15T22:46:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/100/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome 2017-08-18T21:38:34+00:00 https://ambrygen.com/science/peer-reviewed-publication/101/classification-of-variants-of-uncertain-significance-in-brca1-and-brca2-using-personal-and-family-history-of-cancer-from-individuals-in-a-large-hereditary-cancer-multigene-panel-testing-cohort 2017-10-30T14:44:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/102/pten-promoter-variants-are-not-associated-with-common-cancers-implications-for-multigene-panel-testing 2017-11-07T19:23:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/104/biallelic-loss-of-function-variants-in-dock3-cause-muscle-hypotonia-ataxiaand-intellectual-disability 2017-11-27T19:42:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/105/cancer-genetic-counseling-and-testing-in-an-era-of-rapid-change 2017-11-27T19:50:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/106/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration 2017-11-27T20:13:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/107/when-moments-matters-finding-answers-with-rapid-exome-sequencing 2017-11-28T14:36:59+00:00 https://ambrygen.com/science/peer-reviewed-publication/108/colon-pathology-characteristics-in-li-fraumeni-syndrome 2017-11-28T17:17:07+00:00 https://ambrygen.com/science/peer-reviewed-publication/109/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy 2017-11-28T19:11:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/110/clinical-laboratories-collaborate-to-resolve-differences-in-variant-interpretations-submitted-to-clinvar 2017-11-29T18:22:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/111/dnm1-encephalopathy-a-new-disease-of-vesicle-fission 2017-11-29T18:31:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/112/efforts-toward-consensus-variant-interpretation-by-commercial-laboratories 2017-11-29T18:36:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/113/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels 2017-11-29T18:40:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/114/expansion-and-further-delineation-of-the-setd5-phenotype-leading-to-global-developmental-delay-variable-dysmorphic-features-and-reduced-penetrance 2017-11-29T20:40:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/115/foxg1-syndrome-genotype-phenotype-association-in-83-patients-with-foxg1-variants 2017-11-29T20:46:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/117/kinetic-and-structural-changes-in-hsmtphers-induced-by-pathogenic-mutations-in-human-fars2 2017-11-29T20:53:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/118/male-patients-affected-by-mosaic-pcdh19-mutations-5-new-cases 2017-11-29T20:59:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/119/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences 2017-11-29T21:07:59+00:00 https://ambrygen.com/science/peer-reviewed-publication/120/next-generation-deep-sequencing-corrects-diagnostic-pitfalls-of-traditional-molecular-approach-in-a-patient-with-prenatal-onset-of-pompe-disease 2017-11-29T21:12:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/121/frequency-of-mutations-in-a-large-series-of-clinically-ascertained-ovarian-cancer-cases-tested-on-multi-gene-panels-compared-to-reference-controls 2017-11-29T21:21:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/122/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management 2017-11-29T21:31:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/123/unexpected-cdh1-mutations-identified-on-multi-gene-panels-pose-clinical-management-challenges 2017-12-05T16:06:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/124/de-novo-missense-mutations-in-dhx30-impair-global-translation-and-cause-a-neurodevelopmental-disorder 2017-12-05T16:17:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/125/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy 2017-12-05T16:24:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/126/de-novo-variants-in-the-alternative-exon-5-of-scn8a-cause-epileptic-encephalopathy 2017-12-05T16:30:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/127/biallelic-mutations-in-the-ferredoxin-reductase-gene-cause-novel-mitochondriopathy-with-optic-atrophy 2017-12-05T17:32:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/128/de-novo-mutations-in-ppp3ca-cause-severe-neurodevelopmental-disease-with-seizures 2017-12-05T17:40:35+00:00 https://ambrygen.com/science/peer-reviewed-publication/129/haploinsufficiency-of-the-chromatin-remodeler-bptf-causes-syndromic-developmental-and-speech-delay-postnatal-microcephaly-and-dysmorphic-features 2017-12-05T17:48:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/130/cancer-risks-associated-with-germline-palb2-pathogenic-variants-an-international-study-of-524-families 2017-12-05T17:48:41+00:00 https://ambrygen.com/science/peer-reviewed-publication/131/the-role-of-iqsec2-in-syndromic-intellectual-disability-narrowing-the-diagnostic-odyssey 2017-12-05T17:54:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/132/heterozygous-de-novo-ubtf-gain-of-function-variant-is-associated-with-neurodegeneration-in-childhood 2017-12-05T17:58:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/133/post-mortem-diagnostic-exome-sequencing-identifies-a-de-novo-tubb3-alteration-in-a-newborn-with-prenatally-diagnosed-hydrocephalus-and-suspected-walker-warburg-syndrome 2017-12-05T19:51:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/134/yy1-haploinsufficiency-causes-an-intellectual-disability-syndrome-featuring-transcriptional-and-chromatin-dysfunction 2017-12-05T20:30:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/135/choices-for-return-of-primary-and-secondary-genomic-research-results-of-790-members-of-families-with-mendelian-disease 2017-12-05T21:16:24+00:00 https://ambrygen.com/science/peer-reviewed-publication/136/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects 2017-12-05T21:24:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/137/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders 2017-12-05T21:35:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/138/reply-to-gan-or-and-colleagues-and-manole-and-colleagues 2017-12-05T21:38:41+00:00 https://ambrygen.com/science/peer-reviewed-publication/139/clinical-diagnostic-exome-sequencing-in-dystonia-genetic-testing-challenges-for-complex-conditions 2017-12-07T21:41:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/140/biallelic-mutations-in-fut8-cause-a-congenital-disorder-of-glycosylation-with-defective-fucosylation 2018-01-10T21:35:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/141/de-novo-variants-in-gria4-lead-to-intellectual-disability-with-or-without-seizures-and-gait-abnormalities 2018-01-10T21:46:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/142/missense-variants-in-rhobtb2-cause-a-developmental-and-epileptic-encephalopathy-in-humans-and-altered-levels-cause-neurological-defects-in-drosophila 2018-01-10T22:11:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/143/somatic-tp53-variants-frequently-confound-germline-testing-results 2018-01-10T22:27:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/144/de-novo-mutations-in-protein-kinase-genes-camk2a-and-camk2b-cause-intellectual-disability 2018-01-11T16:11:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/146/false-positive-results-released-by-direct-to-consumer-genetic-tests-highlight-the-importance-of-clinical-confirmation-testing-for-appropriate-patient-care 2018-03-23T11:16:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/147/exome-sequencing-in-neonates-diagnostic-rates-characteristics-and-time-to-diagnosis 2018-03-26T12:10:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/148/multi-gene-panel-testing-detects-equal-rates-of-pathogenic-brca1-2-mutations-and-has-a-higher-diagnostic-yield-compared-to-limited-brca1-2-analysis-alone-in-patients-at-risk-for-hereditary-breast-canc 2018-03-27T08:41:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/150/the-escherichia-coli-narl-receiver-domain-regulates-transcription-through-promoter-specific-functions 2018-03-27T09:09:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/151/a-survey-of-current-practices-for-genomic-sequencing-test-interpretation-and-reporting-processes-in-us-laboratories 2018-03-27T09:26:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/152/defining-the-phenotypic-spectrum-of-slc6a1-mutations 2018-03-27T10:04:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/153/functional-dysregulation-of-cdc42-causes-diverse-developmental-phenotypes 2018-03-27T10:14:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/154/tumornext-lynch-mmr-a-comprehensive-next-generation-sequencing-assay-for-the-detection-of-germline-and-somatic-mutations-in-genes-associated-with-mismatch-repair-deficiency-and-lynch-syndrome 2018-04-19T07:20:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/155/the-acmg-amp-reputable-source-criteria-for-the-interpretation-of-sequence-variants 2018-04-26T13:57:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/156/differences-in-tp53-mutation-carrier-phenotypes-emerge-from-panel-based-testing 2018-04-26T14:38:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/157/clinical-and-genetic-spectrum-of-ampd2-related-pontocerebellar-hypoplasia-type-9 2018-04-26T14:45:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/158/biallelic-mutations-in-pmpcb-encoding-the-catalytic-subunit-of-the-mitochondrial-presequence-protease-cause-neurodegeneration-with-cerebellar-atrophy-in-early-childhood 2018-04-26T14:47:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/159/clinical-germline-diagnostic-exome-sequencing-for-hereditary-cancer-findings-within-novel-candidate-genes-are-prevalent-human-molecular-genetics 2018-04-26T14:49:36+00:00 https://ambrygen.com/science/peer-reviewed-publication/160/functional-variants-in-tbx2-are-associated-with-a-syndromic-cardiovascular-and-skeletal-developmental-disorder 2018-05-16T10:30:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/161/mutations-in-scn3a-cause-early-infantile-epileptic-encephalopathy 2018-05-16T10:43:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/162/whole-exome-sequencing-uncovers-oxidoreductases-dhtkd1-and-ogdhl-as-linkers-between-mitochondrial-dysfunction-and-eosinophilic-esophagitis 2018-05-16T11:25:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/163/diagnostic-exome-sequencing-identifies-gli2-haploinsufficiency-and-chromosome-20-uniparental-disomy-in-a-patient-with-developmental-anomalies 2018-05-16T11:32:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/164/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants 2018-06-19T11:56:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/165/efficient-detection-of-copy-number-mutations-in-pms2-exons-with-close-homologs-detection-of-copy-number-variants-in-3-pms2-exons 2018-06-27T08:12:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/166/quantitative-analysis-of-brca1-and-brca2-germline-splicing-variants-using-a-novel-rna-massively-parallel-sequencing-assay 2018-07-30T06:52:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/167/dna-breakpoint-assay-reveals-a-majority-of-gross-duplications-occur-in-tandem-reducing-vus-classifications-in-breast-cancer-predisposition-genes 2018-07-30T06:59:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/168/quality-of-clinician-reported-cancer-history-when-ordering-genetic-testing 2018-07-30T10:40:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/169/the-landscape-of-reported-vus-in-multi-gene-panel-and-genomic-testing-time-for-a-change 2018-07-30T10:40:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/170/multigene-hereditary-cancer-panels-reveal-high-risk-pancreatic-cancer-susceptibility-genes 2018-07-30T10:52:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/171/advocating-for-the-consumer-clinical-confirmation-of-all-direct-to-consumer-raw-data-alterations-remains-critical 2018-07-31T14:01:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/172/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer 2018-08-01T11:44:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/173/a-novel-de-novo-cdh1-germline-variant-aids-in-the-classification-of-c-terminal-e-cadherin-alterations-predicted-to-escape-nonsense-mediated-mrna-decay 2018-08-01T11:54:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/174/hereditary-lobular-breast-cancer-with-an-emphasis-on-e-cadherin-genetic-defect 2018-08-01T14:30:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/175/mylk-pathogenic-variants-aortic-disease-presentation-pregnancy-risk-and-characterization-of-pathogenic-missense-variants 2018-08-01T15:11:24+00:00 https://ambrygen.com/science/peer-reviewed-publication/176/prospective-study-of-germline-genetic-testing-in-incident-cases-of-pancreatic-adenocarcinom 2018-08-03T09:44:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/177/triple-negative-breast-cancer-risk-genes-identified-by-multigene-hereditary-cancer-panel-testing 2018-08-07T10:15:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/178/association-of-breast-and-ovarian-cancers-with-predisposition-genes-identified-by-large-scale-sequencing 2018-08-16T11:25:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/179/kufor-rakeb-syndrome-due-to-a-novel-atp13a2-mutation-in-2-chinese-american-brothers 2018-09-05T08:27:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/180/syt1-associated-neurodevelopmental-disorder-a-case-series 2018-09-05T12:44:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/181/de-novo-itpr1-variants-are-a-recurrent-cause-of-early-onset-ataxia-acting-via-loss-of-channel-function 2018-09-05T12:48:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/182/de-novo-variants-in-neurodevelopmental-disorders-with-epilepsy 2018-09-05T12:55:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/183/de-novo-and-inherited-loss-of-function-variants-in-tlk2-clinical-and-genotype-phenotype-evaluation-of-a-distinct-neurodevelopmental-disorder 2018-09-05T13:00:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/184/genetic-disorders-and-mortality-in-infancy-and-early-childhood-delayed-diagnoses-and-missed-opportunities 2018-09-05T13:07:09+00:00 https://ambrygen.com/science/peer-reviewed-publication/185/expanding-the-phenotypic-spectrum-associated-with-ophn1-variants 2018-09-05T13:18:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/186/de-novo-mutations-of-ccnk-cause-a-syndromic-neurodevelopmental-disorder-with-distinctive-facial-dysmorphism 2018-09-05T13:24:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/187/a-bayesian-framework-for-efficient-and-accurate-variant-prediction 2018-09-14T10:03:59+00:00 https://ambrygen.com/science/peer-reviewed-publication/188/iqsec2-related-encephalopathy-in-males-and-females-a-comparative-study-including-37-novel-patients 2018-09-14T10:14:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/189/recommendations-for-interpreting-the-loss-of-function-pvs1-acmg-amp-variant-criterion 2018-09-14T10:18:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/190/clinical-whole%e2%80%90exome-sequencing-results-impact-medical-management 2018-12-04T07:43:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/191/specifications-of-the-acmg-amp-variant-curation-guidelines-for-the-analysis-of-germline-cdh1-sequence-variants 2018-12-05T12:52:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/192/the-current-genetic-landscape-of-triple-negative-breast-cancer 2018-12-14T12:58:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/194/scaling-resolution-of-variant-classification-differences-in-clinvar-between-41-clinical-laboratories-through-an-outlier-approach 2018-12-14T13:15:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/196/gene-specific-criteria-for-pten-variant-curation-recommendations-from-the-clingen-pten-expert-panel 2018-12-14T13:37:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/197/two-missense-variants-detected-in-breast-cancer-probands-preventing-brca2-palb2-protein-interaction 2018-12-14T13:43:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/198/de-novo-variants-in-klf7-are-a-potential-novel-cause-of-developmental-delay-intellectual-disability-neuromuscular-and-psychiatric-symptoms 2018-12-14T14:09:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/199/misattributed-parentage-as-an-unanticipated-finding-during-exome-genome-sequencing-current-clinical-laboratory-practices-and-an-opportunity-for-standardization 2018-12-14T14:45:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/200/monoallelic-mutyh-carrier-status-is-not-associated-with-increased-breast-cancer-risk-in-a-multigene-panel-cohort 2018-12-26T07:02:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/201/detection-of-structural-variation-using-target-captured-next-generation-sequencing-data-for-genetic-diagnostic-testing 2019-01-16T13:23:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/202/prevalence-of-germline-mutations-in-polyposis-and-colorectal-cancer-associated-genes-in-patients-with-multiple-colorectal-polyps 2019-01-16T13:28:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/203/novel-mutations-in-the-mitochondrial-complex-i-assembly-gene-ndufaf5-reveal-heterogeneous-phenotypes 2019-01-18T09:04:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/205/biallelic-disruption-of-pkdcc-causes-a-skeletal-disorder-characterized-by-rhizomelic-shortening-of-extremities-and-dysmorphic-features 2019-01-18T09:32:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/206/a-recurrent-de-novo-heterozygous-cog4-substitution-leads-to-saul-wilson-syndrome-disrupted-vesicular-trafficking-and-altered-proteoglycan-glycosylation 2019-01-18T09:48:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/207/an-additional-case-of-hennekam-lymphagiectasia-lymphedema-syndrome-caused-by-loss-of-function-mutation-in-adamts3 2019-01-18T10:11:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/208/women-with-breast-and-uterine-cancer-are-more-likely-to-harbor-germline-mutations-than-women-with-breast-or-uterine-cancer-alone-a-case-for-expanded-gene-testing 2019-01-18T10:32:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/209/mutations-in-map3k1-that-cause-46xy-disorders-of-sex-development-disrupt-distinct-structural-domains-in-the-protein 2019-01-18T13:05:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/210/de-novo-variants-in-mapk8ip3-cause-intellectual-disability-with-variable-brain-anomalies 2019-01-18T13:13:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/211/paired-tumor-and-germline-testing-for-lynch-syndrome-increasing-clarity-for-patients 2019-01-24T11:23:00+00:00 https://ambrygen.com/science/peer-reviewed-publication/212/rna-genetic-testing-identifies-germline-pathogenic-msh2-tandem-duplications-in-lynch-syndrome-patients 2019-02-01T10:39:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/213/hcn1-mutation-spectrum-from-neonatal-epileptic-encephalopathy-to-benign-generalized-epilepsy-and-beyond 2019-02-20T08:25:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/214/the-spectrum-of-genetic-testing 2019-03-06T10:20:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/215/biallelic-vars-variants-cause-developmental-encephalopathy-with-microcephaly-that-is-recapitulated-in-vars-knockout-zebrafish 2019-03-06T10:25:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/216/clinical-spectrum-of-stx1b-related-epileptic-disorders 2019-03-06T12:20:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/217/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures 2019-03-06T12:29:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/218/slc35a2-cdg-functional-characterization-expanded-molecular-clinical-and-biochemical-phenotypes-of-30-unreported-individuals 2019-03-06T12:36:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/219/clinical-validity-assessment-of-genes-for-inclusion-in-multi%e2%80%90gene-panel-testing-a-systematic-approach 2019-03-22T07:28:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/220/a-retrospective-review-of-multiple-findings-in-diagnostic-exome-sequencing-half-are-distinct-and-half-are-overlapping-diagnoses 2019-03-22T07:39:00+00:00 https://ambrygen.com/science/peer-reviewed-publication/222/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report 2019-03-22T11:09:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/223/prevalence-of-germline-variants-in-inflammatory-breast-cancer 2019-04-17T13:06:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/224/family-communication-and-patient-distress-after-germline-genetic-testing-in-individuals-with-pancreatic-ductal-adenocarcinoma 2019-04-17T13:18:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/225/recontact-practices-of-cancer-genetic-counselors-and-an-exploration-of-professional-legal-and-ethical-duty 2019-05-29T09:34:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/226/genotype-phenotype-associations-among-panel-based-tp53-subjects 2019-05-29T09:37:35+00:00 https://ambrygen.com/science/peer-reviewed-publication/227/a-recurrent-missense-variant-in-ap2m1-impairs-clathrin-mediated-endocytosis-and-causes-developmental-and-epileptic-encephalopathy 2019-05-29T09:59:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/228/son-haploinsufficiency-causes-impaired-pre-mrna-splicing-of-cakut-genes-and-heterogeneous-renal-phenotypes 2019-05-29T10:19:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/229/mouse-screen-reveals-multiple-new-genes-underlying-mouse-and-human-hearing-loss 2019-05-29T10:29:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/230/de-novo-variants-disturbing-the-transactivation-capacity-of-pou3f3-cause-a-characteristic-neurodevelopmental-disorder 2019-07-17T08:14:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/231/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria 2019-07-17T08:35:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/232/p53-major-hotspot-variants-are-associated-with-poorer-prognostic-features-in-hereditary-cancer-patients 2019-07-17T08:38:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/233/an-alternative-approach-to-establishing-unbiased-colorectal-cancer-risk-estimation-in-lynch-syndrome 2019-07-17T08:41:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/234/impact-of-rna-testing-on-cardiac-variant-interpretation-and-patient-management 2019-07-17T08:54:07+00:00 https://ambrygen.com/science/peer-reviewed-publication/235/a-clinical-guide-to-hereditary-cancer-panel-testing-evaluation-of-gene-specific-cancer-associations-and-sensitivity-of-genetic-testing-criteria-in-a-cohort-of-165000-high-risk-patients 2019-08-13T07:11:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/236/tumour-characteristics-provide-evidence-for-germline-mismatch-repair-variant-pathogenicity 2019-08-20T07:17:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/237/de-novo-missense-variants-in-fbxw11-cause-diverse-developmental-phenotypes-including-brain-eye-and-digit-anomalies 2019-09-27T13:47:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/238/de-novo-variants-in-slc12a6-cause-sporadic-early-onset-progressive-sensorimotor-neuropathy 2019-09-27T13:56:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/239/revel-and-bayesdel-outperform-other-in-silico-meta-predictors-for-clinical-variant-classification 2019-09-27T14:03:36+00:00 https://ambrygen.com/science/peer-reviewed-publication/240/genetics-of-gastric-cancer-what-do-we-know-about-the-genetic-risks 2019-10-22T11:27:37+00:00 https://ambrygen.com/science/peer-reviewed-publication/241/assessment-of-diagnostic-outcomes-of-rna-genetic-testing-for-hereditary-cancer 2019-10-23T08:46:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/242/breast-cancer-risk-in-neurofibromatosis-type-1-is-a-function-of-the-type-of-nf1-gene-mutation-a-new-genotype-phenotype-correlation 2019-10-23T14:27:09+00:00 https://ambrygen.com/science/peer-reviewed-publication/244/splicing-profile-by-capture-rna-seq-identifies-pathogenic-germline-variants-in-tumor-suppressor-genes 2020-02-25T09:11:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/245/rare-germline-pathogenic-mutations-of-dna-repair-genes-are-most-strongly-asssociated-with-grade-group-5-prostate-cancer 2020-03-24T14:07:36+00:00 https://ambrygen.com/science/peer-reviewed-publication/246/rare-brip1-missense-alleles-confer-risk-for-ovarian-and-breast-cancer 2020-03-24T14:58:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/247/the-contribution-of-germline-predisposition-gene-mutations-to-clinical-subtypes-of-invasive-breast-cancer-from-a-clinical-genetic-testing-cohort 2020-05-04T11:16:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/248/mutation-prevalence-tables-for-hereditary-cancer-derived-from-multi-gene-panel-testing 2020-05-28T13:20:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/249/diagnosing-hereditary-cancer-predisposition-in-men-with-prostate-cancer 2020-05-28T13:45:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/250/paired-tumor-sequencing-and-germline-testing-in-breast-cancer-management-an-experience-of-a-single-academic-center 2020-09-16T14:50:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/251/genotype-phenotype-correlations-among-tp53-carriers-literature-review-and-analysis-of-probands-undergoing-multi-gene-panel-testing-and-single-gene-testing 2020-09-23T11:30:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/252/strong-functional-data-for-pathogenicity-or-neutrality-classify-brca2-dna-binding-domain-variants-of-uncertain-significance 2021-02-19T15:49:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/253/clinical-and-molecular-characteristics-of-nf1-pathogenic-variants-identified-on-hereditary-cancer-multi-gene-panels 2021-02-22T09:55:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/254/specifications-of-the-acmg-amp-variant-classification-guidelines-for-germline-dicer1-variant-curation 2021-04-19T15:01:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/255/a-genotype-first-approach-identifies-high-incidence-of-nf1-pathogenic-variants-with-distinct-disease-associations 2023-05-23T13:08:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/256/tumornext-a-comprehensive-tumor-profiling-assay-that-incorporates-high-resolution-copy-number-analysis-and-germline-status-to-improve-testing-accuracy 2023-05-31T13:01:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/257/performance-of-acmg-amp-variant-interpretation-guidelines-among-nine-laboratories-in-the-clinical-sequencing-exploratory-research-consortium 2023-06-01T06:22:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/258/development-implementation-and-assessment-of-a-genetics-curriculum-across-institutions 2023-06-01T06:42:41+00:00 https://ambrygen.com/science/peer-reviewed-publication/259/the-dynamics-of-a-genetic-counseling-peer-supervision-group 2023-06-01T07:14:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/260/loss-of-synj1-dual-phosphatase-activity-leads-to-early-onset-refractory-seizures-and-progressive-neurological-decline 2023-06-01T07:40:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/261/a-recurrent-mutation-in-kcna2-as-a-novel-cause-of-hereditary-spastic-paraplegia-and-ataxia 2023-06-01T08:16:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/262/phenotypic-spectrum-of-gabra1-from-generalized-epilepsies-to-severe-epileptic-encephalopathies 2023-06-01T08:52:37+00:00 https://ambrygen.com/science/peer-reviewed-publication/263/patient-and-genetic-counselor-perceptions-of-in-person-versus-telephone-genetic-counseling-for-hereditary-breast-ovarian-cancer 2023-06-01T13:02:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/264/the-clinical-utility-of-next-generation-sequencing-results-in-a-community-based-hereditary-cancer-risk-program 2023-06-01T13:15:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/265/breast-cancer-risk-is-similar-for-chek2-founder-and-non-founder-mutation-carriers 2023-06-01T13:23:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/266/genetic-basis-of-cowden-syndrome-and-its-implications-for-clinical-practice-and-risk-management 2023-06-02T08:07:03+00:00 https://ambrygen.com/science/peer-reviewed-publication/267/male-breast-cancer-in-a-multi-gene-panel-testing-cohort-insights-and-unexpected-results 2023-06-02T08:14:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/268/de-novo-mutations-in-son-disrupt-rna-splicing-of-genes-essential-for-brain-development-and-metabolism-causing-an-intellectual-disability-syndrome 2023-06-02T10:50:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/269/de-novo-missense-variants-in-ppp1cb-are-associated-with-intellectual-disability-and-congenital-heart-disease 2023-06-05T07:28:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/270/further-evidence-that-de-novo-missense-and-truncating-variants-in-zbtb18-cause-intellectual-disability-with-variable-features 2023-06-05T08:33:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/271/loss-of-function-mutations-in-udp-glucose-6-dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy 2023-06-06T08:37:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/272/gene-family-information-facilitates-variant-interpretation-and-identification-of-disease-associated-genes-in-neurodevelopmental-disorders 2023-06-06T10:58:00+00:00 https://ambrygen.com/science/peer-reviewed-publication/273/curated-multiple-sequence-alignment-for-the-adenomatous-polyposis-coli-apc-gene-and-accuracy-of-in-silico-pathogenicity-predictions 2023-06-09T08:45:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/274/facing-the-challenge-of-genetic-counselors-need-for-rapid-continuing-education-about-genomic-technologies 2023-06-09T09:00:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/275/facilitated-referral-pathway-for-genetic-testing-at-the-time-of-ovarian-cancer-diagnosis-uptake-of-genetic-counseling-and-testing-and-impact-on-patient-reported-stress-anxiety-and-depression 2023-06-09T09:06:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/276/racial-and-ethnic-differences-in-multigene-hereditary-cancer-panel-test-results-for-women-with-breast-cancer 2023-06-09T09:12:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/277/histone-h3-3-beyond-cancer-germline-mutations-in-histone-3-family-3a-and-3b-cause-a-previously-unidentified-neurodegenerative-disorder-in-46-patients 2023-06-12T13:26:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/278/widening-of-the-genetic-and-clinical-spectrum-of-lamb-shaffer-syndrome-a-neurodevelopmental-disorder-due-to-sox5-haploinsufficiency 2023-06-20T08:48:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/279/the-evolution-of-constitutional-sequence-variant-interpretation 2023-06-20T12:13:09+00:00 https://ambrygen.com/science/peer-reviewed-publication/280/classification-of-the-canonical-splice-alteration-mutyh-c-934-2a-g-is-likely-benign-based-on-rna-and-clinical-data 2023-06-20T12:20:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/281/points-to-consider-in-the-practice-of-postmortem-genetic-testing-a-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2023-06-20T12:29:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/282/wnt-pathway-inhibitors-are-upregulated-in-xlh-dental-pulp-cells-in-response-to-odontogenic-differentiation 2023-06-20T13:35:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/283/is-appendiceal-cancer-a-lynch-syndrome-associated-cancer-reply 2023-06-21T06:07:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/284/gene-specific-acmg-amp-classification-criteria-for-germline-apc-variants-recommendations-from-the-clingen-insight-hereditary-colorectal-cancer-polyposis-variant-curation-expert-panel 2023-06-21T06:15:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/285/how-parents-of-children-with-ataxia-telangiectasia-use-dynamic-coping-to-navigate-cyclical-uncertainty 2023-06-21T06:21:00+00:00 https://ambrygen.com/science/peer-reviewed-publication/286/recommendations-for-next-generation-sequencing-germline-variant-confirmation-a-joint-report-of-the-association-for-molecular-pathology-and-national-society-of-genetic-counselors 2023-06-21T06:45:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/287/germline-variant-spectrum-among-african-american-men-undergoing-prostate-cancer-germline-testing-need-for-equity-in-genetic-testing 2023-06-21T06:54:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/288/serial-changes-in-liquid-biopsy-derived-variant-allele-frequency-predict-immune-checkpoint-inhibitor-responsiveness-in-the-pan-cancer-setting 2023-06-21T07:03:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/289/an-algorithm-for-optimal-testing-in-co-segregation-analysis 2023-06-21T07:07:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/290/a-novel-social-contract-an-attempt-to-harmonize-a-sponsors-exploratory-research-with-a-clinical-study-participants-data-rights 2023-06-21T07:16:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/291/a-calibrated-functional-patch-clamp-assay-to-enhance-clinical-variant-interpretation-in-kcnh2-related-long-qt-syndrome 2023-06-21T08:04:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/292/development-and-validation-of-the-premmplus-model-for-multigene-hereditary-cancer-risk-assessment 2023-06-21T08:36:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/293/diagnostic-outcomes-of-concurrent-dna-and-rna-sequencing-in-individuals-undergoing-hereditary-cancer-testing 2023-06-21T08:42:36+00:00 https://ambrygen.com/science/peer-reviewed-publication/294/case-report-and-review-of-the-literature-immune-dysregulation-in-a-large-familial-cohort-due-to-a-novel-pathogenic-rela-variant 2023-06-21T08:54:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/295/inherited-bone-marrow-failure-with-macrothrombocytopenia-due-to-germline-tubulin-beta-class-i-tubb-variant 2023-06-21T09:07:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/296/human-kcnq5-de-novo-mutations-underlie-epilepsy-and-intellectual-disability 2023-06-21T10:22:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/297/differences-in-patient-ascertainment-affect-the-use-of-gene-specified-acmg-amp-phenotype-related-variant-classification-criteria-evidence-for-tp53 2023-06-21T12:40:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/298/breast-cancer-polygenic-risk-scores-in-the-clinical-cancer-genetic-counseling-setting-current-practices-and-impact-on-patient-management 2023-06-21T12:45:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/299/germline-pathogenic-smarca4-variants-in-neuroblastoma 2023-06-21T12:58:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/300/suggested-application-of-her2-breast-tumor-phenotype-for-germline-tp53-variant-classification-within-acmg-amp-guidelines 2023-06-22T12:51:05+00:00 https://ambrygen.com/science/peer-reviewed-publication/301/discovery-of-a-neuromuscular-syndrome-caused-by-biallelic-variants-in-ascc3 2023-06-22T13:22:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/302/a-founder-chek2-pathogenic-variant-in-association-with-kidney-cancer 2023-06-23T07:03:41+00:00 https://ambrygen.com/science/peer-reviewed-publication/303/massive-macroglossia-a-rare-side-effect-of-covid-19-clinical-histologic-and-genomic-findings-in-covid-19-positive-versus-covid-19-negative-patients 2023-06-23T07:13:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/304/a-rare-tp53-mutation-predominant-in-ashkenazi-jews-confers-risk-of-multiple-cancers 2023-06-23T07:24:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/306/prevalence-of-germline-pathogenic-and-likely-pathogenic-variants-in-patients-with-second-breast-cancers 2023-06-23T10:30:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/307/response-to-mcgurk-et-al 2023-06-23T10:41:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/308/risk-assessment-and-genetic-counseling-for-lynch-syndrome-practice-resource-of-the-national-society-of-genetic-counselors-and-the-collaborative-group-of-the-americas-on-inherited-gastrointestinal-ca 2023-06-23T10:51:09+00:00 https://ambrygen.com/science/peer-reviewed-publication/309/case-case-analysis-addressing-ascertainment-bias-for-multigene-panel-testing-implicates-brca1-and-palb2-in-endometrial-cancer 2023-06-23T11:07:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/310/rethinking-genetic-counseling-clinical-skills-training-in-the-time-of-covid-19 2023-06-23T11:24:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/311/universal-germline-panel-testing-for-individuals-with-pheochromocytoma-and-paraganglioma-produces-high-diagnostic-yield 2023-06-23T11:29:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/312/closing-the-gap-systematic-integration-of-multiplexed-functional-data-resolves-variants-of-uncertain-significance-in-brca1-tp53-and-pten 2023-06-23T11:40:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/313/incidental-detection-of-acquired-variants-in-germline-genetic-and-genomic-testing-a-points-to-consider-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2023-06-26T05:55:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/314/three-newly-recognized-likely-pathogenic-gene-variants-associated-with-hereditary-transthyretin-amyloidosis 2023-06-26T06:04:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/315/suspected-clonal-hematopoiesis-as-a-natural-functional-assay-of-tp53-germline-variant-pathogenicity 2023-06-26T06:10:17+00:00 https://ambrygen.com/science/peer-reviewed-publication/316/high-density-blood-transcriptomics-reveals-precision-immune-signatures-of-sars-cov-2-infection-in-hospitalized-individuals 2023-06-26T06:27:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/317/prevalence-and-spectrum-of-pathogenic-variants-among-patients-with-multiple-primary-cancers-evaluated-by-clinical-characteristics 2023-06-26T06:31:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/318/recurrent-de-novo-missense-variants-across-multiple-histone-h4-genes-underlie-a-neurodevelopmental-syndrome 2023-06-26T07:18:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/319/quantifying-evidence-toward-pathogenicity-for-rare-phenotypes-the-case-of-succinate-dehydrogenase-genes-sdhb-and-sdhd 2023-06-26T08:04:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/320/calibration-of-computational-tools-for-missense-variant-pathogenicity-classification-and-clingen-recommendations-for-pp3-bp4-criteria 2023-06-26T08:16:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/321/estimating-the-relative-frequency-of-leukodystrophies-and-recommendations-for-carrier-screening-in-the-era-of-next-generation-sequencing 2023-06-26T08:35:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/322/saturation-scale-functional-evidence-supports-clinical-variant-interpretation-in-lynch-syndrome 2023-06-27T05:36:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/323/mutational-and-splicing-landscape-in-a-cohort-of-43000-patients-tested-for-hereditary-cancer 2023-06-27T05:58:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/324/identification-of-genes-regulating-hepatocyte-injury-by-a-genome-wide-crispr-cas9-screen 2023-06-27T06:03:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/325/cascade-testing-after-exome-sequencing-retrospective-analysis-of-linked-family-data-at-2-us-laboratories 2023-06-27T06:09:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/326/phenotypic-and-genetic-spectrum-of-atp6v1a-encephalopathy-a-disorder-of-lysosomal-homeostasis 2023-06-27T06:49:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/327/differences-in-cancer-phenotypes-among-frequent-chek2-variants-and-implications-for-clinical-care-checking-chek2 2023-06-27T07:09:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/328/inherited-cancer-predisposing-mutations-in-patients-with-therapy-related-myeloid-neoplasms 2023-06-27T07:21:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/329/smad3-promotes-adverse-cardiovascular-remodeling-and-dysfunction-in-doxorubicin-treated-hearts 2023-06-27T10:06:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/330/germline-pathogenic-variants-in-cancer-risk-genes-among-patients-with-thyroid-cancer-and-suspected-predisposition 2023-06-28T05:11:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/331/abrogation-of-map4k4-protein-function-causes-congenital-anomalies-in-humans-and-zebrafish 2023-06-28T06:35:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/332/taok1-is-associated-with-neurodevelopmental-disorder-and-essential-for-neuronal-maturation-and-cortical-development 2023-06-28T07:02:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/333/prevalence-of-pathogenic-variants-in-dna-damage-response-and-repair-genes-in-patients-undergoing-cancer-risk-assessment-and-reporting-a-personal-history-of-early-onset-renal-cancer 2023-06-28T07:28:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/334/association-of-family-cancer-history-with-pathogenic-variants-in-specific-breast-cancer-susceptibility-genes 2023-06-28T07:36:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/335/clinician-reported-impact-of-germline-multigene-panel-testing-on-cancer-risk-management-recommendations 2023-06-28T07:40:24+00:00 https://ambrygen.com/science/peer-reviewed-publication/336/a-durable-response-to-pembrolizumab-in-a-patient-with-uterine-serous-carcinoma-and-lynch-syndrome-due-to-the-msh6-germline-mutation 2023-06-28T07:45:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/337/reticular-dysgenesis-caused-by-an-intronic-pathogenic-variant-in-ak2 2023-06-28T12:49:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/338/paired-like-homeobox-gene-phox2b-nonpolyalanine-repeat-expansion-mutations-nparms-genotype-phenotype-correlation-in-congenital-central-hypoventilation-syndrome-cchs 2023-06-29T06:12:40+00:00 https://ambrygen.com/science/peer-reviewed-publication/339/points-to-consider-when-assessing-relationships-or-suspecting-misattributed-relationships-during-family-based-clinical-genomic-testing-a-statement-of-the-american-college-of-medical-genetics-and-ge 2023-06-29T06:19:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/340/backpack-health-reduces-data-sharing-barriers-between-the-medical-community-and-individuals-with-rare-diseases 2023-06-29T06:27:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/341/different-fumarate-hydratase-gene-variants-are-associated-with-distinct-cancer-phenotypes 2023-06-29T06:31:35+00:00 https://ambrygen.com/science/peer-reviewed-publication/342/real-world-integration-of-genomic-data-into-the-electronic-health-record-the-pennchart-genomics-initiative 2023-06-29T06:36:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/343/an-updated-quantitative-model-to-classify-missense-variants-in-the-tp53-gene-a-novel-multifactorial-strategy 2023-06-29T06:42:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/344/clinical-validity-of-expanded-carrier-screening-evaluating-the-gene-disease-relationship-in-more-than-200-conditions 2023-06-29T06:46:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/345/targeting-cellular-heterogeneity-with-cxcr2-blockade-for-the-treatment-of-therapy-resistant-prostate-cancer 2023-06-30T06:53:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/346/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group 2023-06-30T07:08:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/347/tsc1-variant-associated-with-mild-or-absent-clinical-features-of-tuberous-sclerosis-complex-in-a-three-generation-family 2023-06-30T07:13:17+00:00 https://ambrygen.com/science/peer-reviewed-publication/348/echs1-disease-in-two-unrelated-families-of-samoan-descent-common-variant-rare-disorder 2023-06-30T07:22:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/349/rna-seq-analysis-is-a-useful-tool-in-variant-classification 2023-07-05T10:11:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/350/integration-of-functional-assay-data-results-provides-strong-evidence-for-classification-of-hundreds-of-brca1-variants-of-uncertain-significance 2023-07-05T10:19:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/351/specifications-of-the-acmg-amp-variant-interpretation-guidelines-for-germline-tp53-variants 2023-07-05T10:26:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/352/pediatric-myelodysplastic-syndrome-with-germline-rras-mutation-expanding-the-phenotype-of-rasopathies 2023-07-05T10:32:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/353/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum 2023-07-05T10:40:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/354/validation-of-a-prostate-cancer-polygenic-risk-score 2023-07-05T10:46:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/355/the-clinical-genome-resource-clingen-familial-hypercholesterolemia-variant-curation-expert-panel-consensus-guidelines-for-ldlr-variant-classification 2023-07-05T11:10:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/356/vhl-mosaicism-the-added-value-of-multi-tissue-analysis 2023-07-05T11:36:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/357/rna-sequencing-uncovers-clinically-actionable-germline-intronic-msh2-variants-in-previously-unresolved-lynch-syndrome-families 2023-07-05T11:40:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/358/diagnostic-testing-laboratories-are-valuable-partners-for-disease-gene-discovery-5-year-experience-with-genematcher 2023-07-05T11:42:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/359/somatic-tumor-profile-analysis-in-a-patient-with-germline-pms2-mutation-and-synchronous-ovarian-and-uterine-carcinomas 2023-07-05T13:05:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/360/acmg-sf-v3-1-list-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2023-07-05T13:16:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/361/de-novo-and-inherited-variants-in-znf292-underlie-a-neurodevelopmental-disorder-with-features-of-autism-spectrum-disorder 2023-07-07T07:09:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/362/a-second-cohort-of-chd3-patients-expands-the-molecular-mechanisms-known-to-cause-snijders-blok-campeau-syndrome 2023-07-07T08:41:11+00:00 https://ambrygen.com/science/peer-reviewed-publication/363/mn1-c-terminal-truncation-syndrome-is-a-novel-neurodevelopmental-and-craniofacial-disorder-with-partial-rhombencephalosynapsis 2023-07-11T10:33:08+00:00 https://ambrygen.com/science/peer-reviewed-publication/364/nbn-pathogenic-germline-variants-are-associated-with-pan-cancer-susceptibility-and-in-vitro-dna-damage-response-defects 2023-07-11T11:18:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/365/damaging-de-novo-missense-variants-in-eef1a2-lead-to-a-developmental-and-degenerative-epileptic-dyskinetic-encephalopathy 2023-07-11T12:07:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/366/the-development-of-an-infrastructure-to-facilitate-the-use-of-whole-genome-sequencing-for-population-health 2023-07-11T12:26:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/367/phenotypic-expansion-of-the-bptf-related-neurodevelopmental-disorder-with-dysmorphic-facies-and-distal-limb-anomalies 2023-07-11T13:14:59+00:00 https://ambrygen.com/science/peer-reviewed-publication/368/harmonizing-the-collection-of-clinical-data-on-genetic-testing-requisition-forms-to-enhance-variant-interpretation-in-hypertrophic-cardiomyopathy-hcm-a-study-from-the-clingen-cardiomyopathy-variant 2023-07-12T06:06:07+00:00 https://ambrygen.com/science/peer-reviewed-publication/369/recommendations-for-clinical-interpretation-of-variants-found-in-non-coding-regions-of-the-genome 2023-07-12T07:02:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/370/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines 2023-07-12T07:54:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/371/novel-variants-in-kat6b-spectrum-of-disorders-expand-our-knowledge-of-clinical-manifestations-and-molecular-mechanisms 2023-07-12T08:11:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/372/variants-in-the-sk2-channel-gene-kcnn2-lead-to-dominant-neurodevelopmental-movement-disorders 2023-07-13T05:49:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/373/atp1a2-and-atp1a3-associated-early-profound-epileptic-encephalopathy-and-polymicrogyria 2023-07-13T06:34:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/374/clinical-splicing-and-functional-analysis-to-classify-brca2-exon-3-variants-application-of-a-points-based-acmg-amp-approach 2023-07-14T09:44:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/375/an-integrative-model-for-the-comprehensive-classification-of-brca1-and-brca2-variants-of-uncertain-clinical-significance 2023-07-14T11:12:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/376/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants 2023-07-14T11:14:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/377/multi-ethnic-gwas-and-fine-mapping-of-glycaemic-traits-identify-novel-loci-in-the-page-study 2023-07-17T06:14:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/378/inherited-cancer-susceptibility-gene-sequence-variations-among-patients-with-appendix-cancer 2023-07-17T06:45:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/379/congenital-urinary-tract-anomalies-are-a-variable-finding-associated-with-nevoid-basal-cell-carcinoma-syndrome 2023-07-17T06:58:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/380/germline-genetic-testing-after-cancer-diagnosis 2023-07-17T07:13:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/381/clinical-multigene-panel-testing-identifies-racial-and-ethnic-differences-in-germline-pathogenic-variants-among-patients-with-early-onset-colorectal-cancer 2023-07-17T07:18:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/382/germline-pathogenic-variants-in-cancer-predisposition-genes-among-women-with-invasive-lobular-carcinoma-of-the-breast 2023-07-17T08:01:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/383/disruption-of-rfx-family-transcription-factors-causes-autism-attention-deficit-hyperactivity-disorder-intellectual-disability-and-dysregulated-behavior 2023-07-17T08:39:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/384/chek2-is-not-a-li-fraumeni-syndrome-gene-time-to-update-public-resources 2023-07-17T10:41:14+00:00 https://ambrygen.com/science/peer-reviewed-publication/385/de-novo-coding-variants-in-the-ago1-gene-cause-a-neurodevelopmental-disorder-with-intellectual-disability 2023-07-17T11:55:45+00:00 https://ambrygen.com/science/peer-reviewed-publication/386/a-framework-for-individualized-splice-switching-oligonucleotide-therapy 2023-07-18T05:45:35+00:00 https://ambrygen.com/science/peer-reviewed-publication/387/functional-and-clinical-studies-reveal-pathophysiological-complexity-of-clcn4-related-neurodevelopmental-condition 2023-07-18T07:41:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/388/functional-and-clinical-characterization-of-variants-of-uncertain-significance-identifies-a-hotspot-for-inactivating-missense-variants-in-rad51c 2023-07-18T08:13:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/389/risk-of-late-onset-breast-cancer-in-genetically-predisposed-women 2023-07-18T08:22:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/390/enigma-chek2gether-project-a-comprehensive-study-identifies-functionally-impaired-chek2-germline-missense-variants-associated-with-increased-breast-cancer-risk 2023-07-19T07:08:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/391/ovarian-and-breast-cancer-risks-associated-with-pathogenic-variants-in-rad51c-and-rad51d 2023-07-19T08:29:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/392/characterization-of-pot1-tumor-predisposition-syndrome-tumor-prevalence-in-a-clinically-diverse-hereditary-cancer-cohort 2023-07-20T05:17:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/393/psmc3-proteasome-subunit-variants-are-associated-with-neurodevelopmental-delay-and-type-i-interferon-production 2023-07-20T06:04:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/394/genotype-phenotype-correlation-at-codon-1740-of-setd2 2023-07-20T06:53:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/395/mutation-specific-pathophysiological-mechanisms-define-different-neurodevelopmental-disorders-associated-with-satb1-dysfunction 2023-07-20T07:24:02+00:00 https://ambrygen.com/science/peer-reviewed-publication/396/spen-haploinsufficiency-causes-a-neurodevelopmental-disorder-overlapping-proximal-1p36-deletion-syndrome-with-an-episignature-of-x-chromosomes-in-females 2023-07-20T12:28:30+00:00 https://ambrygen.com/science/peer-reviewed-publication/397/genotype-phenotype-correlations-in-scn8a-related-disorders-reveal-prognostic-and-therapeutic-implications 2023-07-21T06:44:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/398/barriers-to-hormone-therapy-following-prophylactic-bilateral-salpingo-oophorectomy-in-brca1-2-mutation-carriers 2023-07-21T07:15:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/399/pura-related-developmental-and-epileptic-encephalopathy-phenotypic-and-genotypic-spectrum 2023-07-21T07:37:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/400/the-gene-curation-coalition-a-global-effort-to-harmonize-gene-disease-evidence-resources 2023-07-24T06:03:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/401/misattributed-parentage-identified-through-diagnostic-exome-sequencing-frequency-of-detection-and-reporting-practices 2023-07-24T06:08:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/403/genetic-counseling-in-diabetes-mellitus-a-practice-resource-of-the-national-society-of-genetic-counselors 2023-08-07T06:18:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/404/combining-clinical-and-molecular-characterization-of-cdh1-a-multidisciplinary-approach-to-reclassification-of-a-splicing-variant 2023-08-09T06:27:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/405/pretest-video-education-versus-genetic-counseling-for-patients-with-prostate-cancer-progen-a-multisite-randomized-controlled-trial 2023-11-15T10:14:01+00:00 https://ambrygen.com/science/peer-reviewed-publication/407/effect-of-the-lsd1-inhibitor-rn-1-on-%ce%b3-globin-and-global-gene-expression-during-erythroid-differentiation-in-baboons-papio-anubis 2024-01-17T05:23:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/408/clingen-guidance-for-use-of-the-pp1-bs4-co-segregation-and-pp4-phenotype-specificity-criteria-for-sequence-variant-pathogenicity-classification 2024-01-17T05:47:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/409/spliceosome-malfunction-causes-neurodevelopmental-disorders-with-overlapping-features 2024-01-17T05:52:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/410/recommendations-for-risk-allele-evidence-curation-classification-and-reporting-from-the-clingen-low-penetrance-risk-allele-working-group 2024-04-02T06:27:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/411/solving-missing-heritability-in-patients-with-familial-adenomatous-polyposis-with-dna-rna-paired-testing 2024-04-09T06:50:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/412/double-chek2-pathogenic-and-low-risk-variants-and-associated-cancer-phenotypes 2024-04-09T07:03:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/413/clinical-interpretation-of-kcnh2-variants-using-a-robust-ps3-bs3-functional-patch-clamp-assay 2024-04-09T07:12:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/414/biallelic-variants-in-gtf3c5-a-regulator-of-rna-polymerase-iii-mediated-transcription-cause-a-multisystem-developmental-disorder 2024-04-09T07:19:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/415/challenges-and-approaches-to-calibrating-patient-phenotype-as-evidence-for-cancer-gene-variant-classification-under-acmg-amp-guidelines 2024-04-09T07:36:17+00:00 https://ambrygen.com/science/peer-reviewed-publication/416/cachd1-interacts-with-wnt-receptors-and-regulates-neuronal-asymmetry-in-the-zebrafish-brain 2024-05-14T06:35:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/417/cancer-burden-in-individuals-with-single-versus-double-pathogenic-variants-in-cancer-susceptibility-genes 2024-05-14T06:53:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/418/functional-analysis-and-clinical-classification-of-462-germline-brca2-missense-variants-affecting-the-dna-binding-domain 2024-05-14T07:02:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/419/outcomes-of-a-universal-germline-screening-program-in-a-community-urology-practice 2024-06-11T12:43:26+00:00 https://ambrygen.com/science/peer-reviewed-publication/420/consideration-of-disease-penetrance-in-the-selection-of-secondary-findings-gene-disease-pairs-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2024-06-11T12:43:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/421/cask-pathogenic-variant-which-expands-the-clinical-spectrum-for-micpch-syndrome-in-an-adult-patient 2024-06-11T12:47:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/422/genetic-counseling-for-the-dystrophinopathies-practice-resource-of-the-national-society-of-genetic-counselors 2024-06-11T12:53:39+00:00 https://ambrygen.com/science/peer-reviewed-publication/423/clinical-features-and-genotype-phenotype-correlations-in-epilepsy-patients-with-de-novo-dync1h1-variants 2024-07-09T06:47:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/424/the-impact-of-clinical-genome-sequencing-in-a-global-population-with-suspected-rare-genetic-disease 2024-07-09T07:50:54+00:00 https://ambrygen.com/science/peer-reviewed-publication/425/assessment-of-the-evidence-yield-for-the-calibrated-pp3-bp4-computational-recommendations 2024-08-14T06:50:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/426/atypical-cancer-risk-profile-in-carriers-of-italian-founder-brca1-variant-p-his1673del-implications-for-classification-and-clinical-management 2024-09-09T09:34:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/427/evidence-based-recommendations-for-gene-specific-acmg-amp-variant-classification-from-the-clingen-enigma-brca1-and-brca2-variant-curation-expert-panel 2024-09-09T10:04:37+00:00 https://ambrygen.com/science/peer-reviewed-publication/428/assigning-credit-where-it-is-due-an-information-content-score-to-capture-the-clinical-value-of-multiplexed-assays-of-variant-effect 2024-10-10T07:02:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/429/rna-methyltransferase-spout1-cenp-32-links-mitotic-spindle-organization-with-the-neurodevelopmental-disorder-spadmiss 2024-10-10T07:13:31+00:00 https://ambrygen.com/science/peer-reviewed-publication/430/specifications-of-the-acmg-amp-variant-curation-guidelines-for-hereditary-hemorrhagic-telangiectasia-genes-eng-and-acvrl1 2024-10-10T10:25:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/431/specifications-of-the-acmg-amp-variant-curation-guidelines-for-the-analysis-of-germline-atm-sequence-variants 2024-10-10T10:53:20+00:00 https://ambrygen.com/science/peer-reviewed-publication/432/whole-genome-sequencing-based-analysis-of-inflammation-biomarkers-in-the-trans-omics-for-precision-medicine-topmed-consortium 2024-10-10T11:17:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/433/considerations-for-reporting-variants-in-novel-candidate-genes-identified-during-clinical-genomic-testing 2024-10-10T11:41:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/434/management-targeted-genetic-evaluation-of-an-idiopathic-neuropathy-cohort-through-attrv-amyloidosis-screening 2024-10-10T11:52:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/435/large-scale-application-of-clingen-insight-apc-specific-acmg-amp-variant-classification-criteria-leads-to-substantial-reduction-in-vus 2024-10-10T11:58:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/436/calibration-of-additional-computational-tools-expands-clingen-recommendation-options-for-variant-classification-with-pp3-bp4-criteria 2024-10-10T12:15:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/437/reduced-penetrance-brca1-and-brca2-pathogenic-variants-in-clinical-germline-genetic-testing 2024-11-06T06:38:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/438/the-clinical-genome-resource-clingen-advancing-genomic-knowledge-through-global-curation 2024-11-06T06:46:41+00:00 https://ambrygen.com/science/peer-reviewed-publication/439/functional-evaluation-and-clinical-classification-of-brca2-variants 2024-11-06T06:57:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/440/hereditary-transthyretin-amyloidosis-in-patients-referred-to-a-genetic-testing-program 2024-12-20T08:16:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/441/variant-of-uncertain-significance-patterns-among-patients-with-early-onset-colorectal-cancer 2024-12-20T08:25:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/442/pathogenic-variants-in-cancer-susceptibility-genes-predispose-to-ductal-carcinoma-in-situ-of-the-breast 2024-12-20T08:25:53+00:00 https://ambrygen.com/science/peer-reviewed-publication/443/validation-of-the-nccn-yale-criteria-for-the-identification-of-cdh1-pathogenic-variant-carriers 2024-12-23T05:14:23+00:00 https://ambrygen.com/science/peer-reviewed-publication/445/a-novel-cysteine-rich-adaptor-protein-is-required-for-mucin-packaging-and-secretory-granule-stability-in-vivo 2025-02-19T06:31:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/446/advanced-variant-classification-framework-reduces-the-false-positive-rate-of-predicted-loss-of-function-variants-in-population-sequencing-data 2025-02-19T06:43:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/447/bap1-tumor-predisposition-syndrome 2025-02-19T06:46:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/448/correction-to-pathogenic-variants-among-females-with-breast-cancer-and-a-non-breast-cancer-reveal-opportunities-for-cancer-interception 2025-02-19T07:09:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/449/systematic-evidence-review-and-meta-analysis-of-outcomes-associated-with-cancer-genetic-counseling 2025-02-19T07:19:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/450/using-the-acmg-amp-framework-to-capture-evidence-related-to-predicted-and-observed-impact-on-splicing-recommendations-from-the-clingen-svi-splicing-subgroup 2025-02-19T07:27:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/451/acmg-sf-v3-2-list-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2025-02-19T09:45:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/452/benefits-and-harms-of-interception-and-early-detection-of-cancer 2025-02-19T09:48:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/453/male-proband-with-intractable-seizures-and-a-de-novo-start-codon-disrupting-variant-in-glul 2025-05-14T12:12:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/454/benefits-limitations-and-impacts-of-reproductive-carrier-screening-and-telehealth-based-genetic-counseling-for-individuals-with-an-increased-chance-to-have-a-child-with-a-genetic-condition 2025-05-14T12:18:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/455/association-of-gene-variant-type-and-location-with-breast-cancer-risk-in-the-general-population 2025-05-15T10:25:49+00:00 https://ambrygen.com/science/peer-reviewed-publication/456/strchive-a-dynamic-resource-detailing-population-level-and-locus-specific-insights-at-tandem-repeat-disease-loci 2025-05-15T10:30:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/457/consensus-guidelines-for-assessing-eligibility-of-pathogenic-dna-variants-for-antisense-oligonucleotide-treatments 2025-05-15T10:46:22+00:00 https://ambrygen.com/science/peer-reviewed-publication/458/bi-allelic-med16-variants-cause-a-medopathy-with-intellectual-disability-motor-delay-and-craniofacial-cardiac-and-limb-malformations 2025-05-21T08:13:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/459/acmg-amp-interpretation-of-brca1-missense-variants-structure-informed-scores-add-evidence-strength-granularity-to-the-pp3-bp4-computational-evidence 2025-06-26T11:18:33+00:00 https://ambrygen.com/science/peer-reviewed-publication/460/impact-of-laboratory-driven-proactive-reanalysis-reclassification-to-positive-in-5-of-initially-negative-or-uncertain-exome-sequencing-cases 2025-07-28T10:46:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/461/extracting-and-calibrating-evidence-of-variant-pathogenicity-from-population-biobank-data 2025-07-28T11:04:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/462/clinical-validity-of-autosomal-dominant-alpk3-loss-of-function-variants-as-a-cause-of-hypertrophic-cardiomyopathy 2025-08-21T09:57:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/463/low-allele-frequency-variants-identified-on-germline-multi-gene-panel-testing-for-cancer-predisposition-can-suggest-the-presence-of-constitutional-mosaicism 2025-08-21T10:06:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/464/understanding-how-gene-disease-relationships-can-impact-clinical-utility-adaptations-and-challenges-in-hereditary-cancer-testing 2025-09-08T09:38:38+00:00 https://ambrygen.com/science/peer-reviewed-publication/465/acmg-sf-v3-3-list-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg 2025-09-08T09:50:19+00:00 https://ambrygen.com/science/peer-reviewed-publication/466/case-report-biallelic-brca1-pathogenic-alterations-in-a-fanconi-anemia-patient-and-clinical-implications-of-variant-location 2025-09-08T09:57:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/467/updated-acmg-amp-specifications-for-variant-interpretation-and-gene-curations-from-the-clingen-rasopathy-expert-panels 2025-09-08T10:09:37+00:00 https://ambrygen.com/science/peer-reviewed-publication/468/structural-biology-in-variant-interpretation-perspectives-and-practices-from-two-studies 2025-09-08T10:17:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/469/integration-of-protein-stability-and-alpha-missense-scores-improves-bioinformatic-impact-prediction-for-p53-missense-and-in-frame-amino-acid-deletion-variants 2025-09-08T10:21:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/470/the-clingen-syndromic-disorders-gene-curation-expert-panel-assessing-the-clinical-validity-of-111-gene-disease-relationships 2025-09-08T10:25:28+00:00 https://ambrygen.com/science/peer-reviewed-publication/471/autosomal-dominant-hk1-related-neurodevelopmental-disorder-with-visual-defects-and-brain-anomalies-nedviba-an-emerging-mitochondrial-disorder 2025-09-08T11:13:30+00:00 https://ambrygen.com/science/peer-reviewed-publication/472/heterozygous-missense-variants-in-the-atpase-phospholipid-transporting-9a-gene-atp9a-alter-dendritic-spine-maturation-and-cause-dominantly-inherited-nonsyndromic-intellectual-disability 2025-09-08T11:36:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/473/distinct-rates-of-vus-reclassification-are-observed-when-subclassifying-vus-by-evidence-level 2025-09-08T11:41:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/474/specifications-of-the-acmg-amp-variant-curation-guidelines-for-the-analysis-of-germline-palb2-sequence-variants 2025-10-30T07:17:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/475/rare-variants-in-prkci-cause-van-der-woude-syndrome-and-other-features-of-peridermopathy 2025-11-11T08:54:43+00:00 https://ambrygen.com/science/peer-reviewed-publication/476/genes-associated-with-hypertrophic-cardiomyopathy-a-reappraisal-by-the-clingen-hereditary-cardiovascular-disease-gene-curation-expert-panel 2025-11-11T09:46:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/477/lessons-learned-in-migrating-from-one-commercial-genetics-clinical-decision-making-tool-to-another-assessment-of-data-integrity-and-utilization 2025-11-11T09:52:46+00:00 https://ambrygen.com/science/peer-reviewed-publication/478/saturation-mapping-of-mutyh-variant-effects-using-dna-repair-reporters 2025-11-11T10:23:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/479/characteristics-predicting-reduced-penetrance-variants-in-the-high-risk-cancer-predisposition-gene-tp53 2025-11-11T15:31:29+00:00 https://ambrygen.com/science/peer-reviewed-publication/480/association-of-rps20-loss-of-function-variants-with-colorectal-cancer-risk-in-a-cohort-of-over-950000-individuals 2025-11-11T17:50:48+00:00 https://ambrygen.com/science/peer-reviewed-publication/481/clinically-important-endpoints-in-individuals-with-leukodystrophy-a-multisite-study 2025-11-11T18:00:13+00:00 https://ambrygen.com/science/peer-reviewed-publication/482/a-novel-insertion-deletion-in-apc-promotor-1b-is-associated-with-both-gastric-and-colon-polyposis 2025-11-11T18:12:27+00:00 https://ambrygen.com/science/peer-reviewed-publication/483/quantifying-evidence-for-phenotypic-specificity-pp4-for-syndromic-phenotypes-large-scale-integration-of-rare-germline-fh-variants-from-diagnostic-laboratory-testing-for-hlrcc-hereditary-leiomyomat 2025-11-11T18:31:47+00:00 https://ambrygen.com/science/peer-reviewed-publication/484/implementing-a-genetic-counselor-led-model-for-hereditary-myeloid-malignancies-a-real-world-study 2025-11-11T18:40:04+00:00 https://ambrygen.com/science/peer-reviewed-publication/485/specifications-of-the-acmg-amp-variant-curation-guidelines-for-the-analysis-of-germline-palb2-sequence-variants 2025-11-11T18:48:24+00:00 https://ambrygen.com/science/peer-reviewed-publication/486/association-between-invasive-lobular-breast-cancer-and-mutations-in-the-mismatch-repair-gene-msh6-reply 2025-11-12T07:16:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/487/current-state-of-theoretical-and-experimental-studies-of-the-voltage-dependent-anion-channel-vdac 2025-11-12T07:21:59+00:00 https://ambrygen.com/science/peer-reviewed-publication/488/identification-of-genetic-heterogeneity-of-alzheimers-disease-across-age 2025-11-12T07:26:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/489/a-quantitative-bayesian-informed-approach-to-gene-specific-variant-classification-updated-expert-panel-recommendations-improve-classification-of-tp53-germline-variants-for-li-fraumeni-syndrome 2025-11-12T07:37:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/490/smarca4-pathogenic-variants-gynecological-cancer-histories-from-a-laboratory-tested-cohort 2025-11-12T07:43:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/491/frequency-and-clinical-features-of-germline-pathogenic-variants-in-sarcoma-a-case-control-study 2025-11-12T07:46:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/492/10-years-of-exome-sequencing-and-reanalysis-among-racial-ethnic-and-ancestral-groups-the-importance-of-equitable-reanalysis-access 2025-11-12T08:13:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/493/paired-dna-rna-testing-uncovers-a-deep-intronic-pten-pathogenic-variant-associated-with-clinical-cowden-syndrome-a-case-report 2025-11-12T08:16:44+00:00 https://ambrygen.com/science/peer-reviewed-publication/494/brca1-brca2-and-palb2-related-fanconi-anemia-scope-to-expand-disease-phenotypic-features-and-predict-breast-cancer-risk-in-heterozygotes 2025-11-12T08:24:16+00:00 https://ambrygen.com/science/peer-reviewed-publication/495/gata3-deletion-associated-with-juvenile-idiopathic-arthritis-expanding-the-phenotypic-spectrum-of-hypoparathyroidism-sensorineural-deafness-and-renal-dysplasia-hdr-syndrome 2025-11-12T08:39:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/496/hereditary-diffuse-gastric-cancer-spectrum-associated-with-germline-ctnna1-loss-of-function-revealed-by-clinical-and-molecular-data-from-351-carrier-families-and-over-37-000-non-carrier-controls 2025-11-12T08:47:18+00:00 https://ambrygen.com/science/peer-reviewed-publication/29071/site-saturation-functional-screens-identify-palb2-missense-variants-associated-with-increased-breast-cancer-risk 2026-08-01T13:19:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/29069/response-to-spurdle-et-al 2026-08-01T13:20:51+00:00 https://ambrygen.com/science/peer-reviewed-publication/29084/rna-guided-clarity-the-potential-for-resolving-variant-uncertainty-in-clinical-exome-sequencing 2026-08-01T13:25:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/29086/comprehensive-molecular-clinical-profiling-of-cholangiocarcinoma-according-to-pathologic-subtypes 2026-08-01T14:06:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/29098/utility-of-targeted-rna-analysis-in-neurogenetic-disorders 2026-08-01T14:09:12+00:00 https://ambrygen.com/science/peer-reviewed-publication/29099/hereditary-anemias-as-a-monogenic-etiology-for-nonimmune-hydrops-fetalis 2026-08-01T14:17:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/29108/sequencing-approaches-in-hereditary-cancer-testing-strengths-limitations-and-future-directions 2026-08-01T14:21:15+00:00 https://ambrygen.com/science/peer-reviewed-publication/29110/case-report-with-biallelic-variants-in-gcnt2-implicates-exon-1b-in-congenital-cataracts 2026-08-01T14:24:58+00:00 https://ambrygen.com/science/peer-reviewed-publication/29111/transient-neonatal-zinc-deficiency-due-to-maternal-variants-in-slc30a2-an-emerging-and-atypical-candidate-gene-for-maternal-carrier-screening 2026-08-01T14:34:00+00:00 https://ambrygen.com/science/peer-reviewed-publication/29119/challenges-and-errors-in-genetic-testing-the-sixth-case-series 2026-08-01T14:47:56+00:00 https://ambrygen.com/science/peer-reviewed-publication/29130/specification-of-frequency-criteria-for-secondary-findings-genes-to-improve-variant-classification-concordance 2026-08-01T14:55:32+00:00 https://ambrygen.com/science/peer-reviewed-publication/29133/identification-of-de-novo-variants-from-parent-proband-duos-via-long-read-sequencing 2026-08-01T19:25:50+00:00 https://ambrygen.com/science/peer-reviewed-publication/29145/combining-multiplexed-assays-of-variant-effect-for-enhanced-brca2-variant-classification 2026-08-01T19:32:06+00:00 https://ambrygen.com/science/peer-reviewed-publication/29150/measuring-disease-likelihood-in-genomic-ascertainment 2026-08-03T10:02:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/29148/a-stepwise-approach-to-macrocephaly-clinical-clues-to-the-rare-diagnosis-of-pten-hamartoma-tumor-syndrome 2026-08-03T10:04:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/29310/large-class-of-neurodevelopmental-disorders-requires-genome-sequencing-for-diagnosis 2026-08-03T11:40:57+00:00 https://ambrygen.com/science/peer-reviewed-publication/29311/a-plot-twist-when-rna-yields-unexpected-findings-in-paired-dna-rna-germline-genetic-testing 2026-08-03T11:44:10+00:00 https://ambrygen.com/science/peer-reviewed-publication/29313/the-shifting-landscape-of-germline-ret-pathogenic-variants-with-the-introduction-of-panel-testing 2026-08-03T11:49:21+00:00 https://ambrygen.com/science/peer-reviewed-publication/29326/ten-years-of-exome-sequencing-and-reanalysis-among-racial-ethnic-and-ancestral-groups-the-importance-of-equitable-reanalysis-access 2026-08-03T11:52:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/29334/validation-of-a-digital-tool-that-uses-national-testing-guidelines-to-identify-individuals-at-risk-for-hereditary-cancer 2026-08-03T12:22:42+00:00 https://ambrygen.com/science/peer-reviewed-publication/29340/brca1-frameshift-variants-leading-to-extended-incorrect-protein-c-termini 2026-08-03T12:40:25+00:00 https://ambrygen.com/science/peer-reviewed-publication/29364/pathogenic-variants-among-females-with-breast-cancer-and-a-non-breast-cancer-reveal-opportunities-for-cancer-interception 2026-08-03T12:45:55+00:00 https://ambrygen.com/science/peer-reviewed-publication/29368/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum-2 2026-08-03T13:02:52+00:00 https://ambrygen.com/science/peer-reviewed-publication/29365/the-clinical-genome-resource-clingen-familial-hypercholesterolemia-variant-curation-expert-panel-consensus-guidelines-for-ldlr-variant-classification-2 2026-08-03T13:03:42+00:00