Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Read more about Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine
Functional assessment of Dishevelled pathogenic variants in Robinow syndrome Read more about Functional assessment of Dishevelled pathogenic variants in Robinow syndrome
Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program Read more about Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program
Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. Read more about Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach.
Elucidating the role of de novo structural variations in a Mendelian disease cohort consisting of 169 families Read more about Elucidating the role of de novo structural variations in a Mendelian disease cohort consisting of 169 families
De novo variants in GTF2H1 underlie variable syndromic developmental delay Read more about De novo variants in GTF2H1 underlie variable syndromic developmental delay
Investigating the role of the GABA transporter Solute carrier 6 member 1 (SLC6A1) in Mendelian disease traits Read more about Investigating the role of the GABA transporter Solute carrier 6 member 1 (SLC6A1) in Mendelian disease traits
Whole exome sequencing and metabolomics screening of a Kobberling Familial Partial Lipodystrophy cohort identifies new candidate genes and dysregulated pathways Read more about Whole exome sequencing and metabolomics screening of a Kobberling Familial Partial Lipodystrophy cohort identifies new candidate genes and dysregulated pathways
Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2 Read more about Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2
Variants in FGF20 underlie a novel breast malformation Read more about Variants in FGF20 underlie a novel breast malformation