Publications
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863-1873 (2020).
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int 98, 1020-1030 (2020).
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med 22, 1768-1776 (2020).
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med 8, e1397 (2020).
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun 11, 4625 (2020).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat 41, 641-654 (2020).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A 185, 990-994 (2021).
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet (2021). doi:10.1007/s00439-021-02268-1
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A 185, 1288-1293 (2021).
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62192
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet 108, 337-345 (2021).
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221