Publications
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 136, 377-386 (2017).
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet 104, 246-259 (2019).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab 115, 161-7 (2015).
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. J Med Genet 54, 54-62 (2017).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol 40, 470-4 (2016).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol 66, 53-58.e5 (2017).
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation. Cold Spring Harb Mol Case Stud 3, a000984 (2017).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 7, 610-627 (2020).
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
Keratoacanthoma Shares Driver Mutations with Cutaneous Squamous Cell Carcinoma. J Invest Dermatol 136, 1737-1741 (2016).
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 133, 827-830 (2013).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis 12, 173 (2017).
The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13, e0191319 (2018).
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genet Epidemiol 43, 215-226 (2019).
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet 25, 2331-2341 (2016).
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 115, 884-896 (2014).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Br J Ophthalmol 103, 390-397 (2019).
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
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).
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261 (2020).
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet 107, 46-59 (2020).
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron 109, 241-256.e9 (2021).
RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke 45, 3200-7 (2014).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52, 514-22 (2015).
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10, e001449 (2017).