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Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17, 782-8 (2015).
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).
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet 29, 816-826 (2021).
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis. Sci Transl Med 13, (2021).
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 27, 2064-2075 (2018).
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development 147, (2020).
Missense variant contribution to USP9X-female syndrome. NPJ Genom Med 5, 53 (2020).
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).
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).
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).
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).
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (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).
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet (2021). doi:10.1007/s00439-021-02268-1
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).