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
Prediction at scale of lumping and splitting decisions to define monogenic gene-disease entities Read more about Prediction at scale of lumping and splitting decisions to define monogenic gene-disease entities
Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields Read more about Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields
Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory Read more about Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory
