Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol 319, F988-F999 (2020).
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 106, 467-483 (2020).
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet 106, 570-583 (2020).
Determinants of telomere length across human tissues. Science 369, (2020).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Genetics of schizophrenia in the South African Xhosa. Science 367, 569-573 (2020).
A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65, 175-180 (2020).
The impact of sex on gene expression across human tissues. Science 369, (2020).
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11, 2539 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet 107, 1029-1043 (2020).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Sci Rep 10, 11902 (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet 14, e1007822 (2018).
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle 8, 23 (2018).
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet 137, 753-768 (2018).
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20, 411-419 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res 97, 49-59 (2018).
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population. Birth Defects Res 109, 1257-1267 (2017).
denovo-db: a compendium of human de novo variants. Nucleic Acids Res 45, D804-D811 (2017).
Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).
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).
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet 10, (2017).
Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families. Am J Respir Crit Care Med 196, 1481-1484 (2017).
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 100, 343-351 (2017).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
Clinical genomics: from a truly personal genome viewpoint. Hum Genet 135, 591-601 (2016).
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet 98, 553-561 (2016).
Family-Based Rare Variant Association Analysis: A Fast and Efficient Method of Multivariate Phenotype Association Analysis. Genet Epidemiol 40, 502-11 (2016).
FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes. Genet Epidemiol 40, 475-85 (2016).
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat 37, 804-11 (2016).