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Showing 10 of 483 Results

Clinical Genomics
Primary Care

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Date: March 27, 2018

Authors:
Julianne M. O’Daniel, Heather M. McLaughlin, Laura M. Amendola, Sherri J. Bale, Jonathan S. Berg, …

Journal: Genetics in Medicine

Journal Volume: 19

Topics:

Variant Assess. & Interpretation

Collaborators:

ClinVar
University of North Carolina at Chapel Hill

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General

The Escherichia coli NarL receiver domain regulates transcription through promoter specific functions

Date: March 27, 2018

Authors:
Galit Katsir, Michael Jarvis, Martin Phillips, Zhongcai Ma, Robert P. Gunsalus

Journal: BMC Microbiology

Topics:

RNA – Rare Disease

Collaborators:

University of California, Los Angeles

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Oncology

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 Cancer

Date: March 27, 2018

Authors:
Nimmi S. Kapoor, Lisa D. Curcio, Carlee A. Blakemore, Amy K. Bremner, Rachel E. McFarland, …

Journal: Annals of Surgical Oncology

Journal Volume: 22

Collaborators:

Breastlink

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Clinical Genomics

Exome Sequencing in Neonates: Diagnostic Rates, Characteristics and Time to Diagnosis

Date: March 26, 2018

Authors:
Zöe Powis, Kelly D. Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, …

Journal: Genetic Medicine

Note: Our recent publication in Genetic in Medicine demonstrates Ambry’s ExomeNext-Rapid produces: • 38% diagnostic yield in this vulnerable population • Results reported within 8 days on average • Exome testing in neonate should be considered as the first-line testing for diagnosing critically-ill newborns

Topics:

Rare Disease

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Oncology
Primary Care

False Positive Results Released by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care

Date: March 23, 2018

Authors:
Stephany Tandy-Connor,, Jenna Guiltinan,, Kate Krempley, Holly Laduca, Patrick Reineke, …

Journal: Genetics in Medicine

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Clinical Genomics
Neurology

De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

Date: January 11, 2018

Authors:
Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Xénia Latypova, Meghan C. Towne, …

Journal: American journal of human genetics

Journal Volume: 101

Topics:

Gene Characterization
Phenotype Characterization

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Oncology

Somatic TP53 variants frequently confound germline testing results.

Date: January 10, 2018

Authors:
Jeffrey Weitzel, Elizabeth C. Chao, Bita Nehoray, Lily R Van Tongeren, Holly Laduca, …

Journal: Genetics in Medicine

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Neurology

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Date: January 10, 2018

Authors:
Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, …

Journal: American journal of human genetics

Journal Volume: 102

Topics:

Gene Characterization
Phenotype Characterization

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Clinical Genomics
Neurology

De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities

Date: January 10, 2018

Authors:
Sonja Martin, Adam C. Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, …

Journal: American journal of human genetics

Journal Volume: 101

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

University Medical Center Leipzig

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Clinical Genomics

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Date: January 10, 2018

Authors:
Bobby G. Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N. Shinde, …

Journal: American journal of human genetics

Journal Volume: 102

Topics:

Gene Characterization
Rare Disease

Collaborators:

Standford University

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… …

Peer-Reviewed Publications

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

The Escherichia coli NarL receiver domain regulates transcription through promoter specific functions

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 Cancer

Exome Sequencing in Neonates: Diagnostic Rates, Characteristics and Time to Diagnosis

False Positive Results Released by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care

De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

Somatic TP53 variants frequently confound germline testing results.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

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