A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools Read more about A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing Read more about Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery Read more about Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery
NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy Read more about NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3 Read more about Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3
VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data Read more about VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data
BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches Read more about BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches
Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications Read more about Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications
A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy Read more about A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder. Read more about ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder.
