Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
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).
Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (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).
Increased gene dosages induce congenital cervical vertebral malformations in humans and mice. J Med Genet 57, 371-379 (2020).
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A 182, 1664-1672 (2020).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet 137, 689-703 (2018).