Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65, 175-180 (2020).
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 16, e1008691 (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).
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med 8, 105 (2016).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126, 762-78 (2016).
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 125, 636-51 (2015).
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).