Collaborator: Baylor College of Medicine
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Abstract The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome…
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Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2
Mutations in the mitochondrial aminoacyl-tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affected mtaaRS from the symptoms alone. Among the recently reported pathogenic variants are point mutations in…
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Gene-specific criteria for PTEN variant curation.
Ambry is part of ClinGen PTEN Expert panel which was formed to optimize the 2015 ACMG-AMP Variant Interpretation Guidelines for clinical interpretation of variants identified in PTEN Optimized guidelines will facilitate accurate and consistent classification of variants in PTEN across clinical and research laboratories and are therefore very important for patient care.