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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
"Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat 38, 1281-1285 (2017).
Mutations in IFT-A satellite core component genes and produce short rib polydactyly syndrome with distinctive campomelia. Cilia 6, 7 (2017).
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep 6, 34232 (2016).
Digenic mutations of human paralogs in Dent's disease type 2 associated with Chiari I malformation. Hum Genome Var 3, 16042 (2016).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Ann Neurol 80, 633-7 (2016).
Asprosin is a centrally acting orexigenic hormone. Nat Med 23, 1444-1453 (2017).
Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
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
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. Eur J Hum Genet 27, 1054-1060 (2019).
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).
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med 218, (2021).
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations. Circ Genom Precis Med 14, e003182 (2021).
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44, 1249-54 (2012).
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol 143, 1482-1495 (2019).
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39, 1686-1689 (2018).
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).
Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res 97, 49-59 (2018).
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A 176, 1015-1022 (2018).
Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet 105, 1048-1056 (2019).
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62254
Identification of homozygous mutations for hearing loss. Gene 778, 145464 (2021).
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8, 16077 (2017).
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med 11, 30 (2019).
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A 182, 1664-1672 (2020).
Determinants of telomere length across human tissues. Science 369, (2020).
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. J Clin Endocrinol Metab 106, e1441-e1452 (2021).
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab 104, 2961-2970 (2019).
Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia. J Clin Immunol 41, 536-544 (2021).
GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. Pac Symp Biocomput 74-5 (2011).
Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128, 583-95 (2014).
Towards population-scale long-read sequencing. Nat Rev Genet (2021). doi:10.1038/s41576-021-00367-3
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
The Genetic Control of Stoichiometry Underlying Autism. Annu Rev Neurosci 43, 509-533 (2020).
Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells. Cell 184, 92-105.e16 (2021).
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer 23, 221-33 (2016).
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).