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Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum Mutat 36, 1004-8 (2015).
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17, 782-8 (2015).
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 27, 2064-2075 (2018).
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab 104, 3049-3067 (2019).
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).
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).
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet 99, 912-916 (2016).
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int 97, 567-579 (2020).
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).
The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 99, 1181-1189 (2016).
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605-13 (2013).
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Birth Defects Res 111, 1618-1632 (2019).
The utility of exome sequencing for fetal pleural effusions. Prenat Diagn 40, 590-595 (2020).
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 733-43 (2014).
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med 21, 694-704 (2019).
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med 8, 13 (2016).
Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A 161A, 935-50 (2013).