Publications
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Filters: Author is James R Lupski and Keyword is Genetic Predisposition to Disease [Clear All Filters]
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. . A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 ;58(1):41-47.
. . Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 ;48(5):396-402.
. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet. 2021 ;140(7):1011-1029.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 ;96(4):366-370.
. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 ;185(4):1288-1293.
. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 ;41(3):641-654.
. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 ;185(8):2532-2540.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 ;66(1):192-198.
. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 ;182(5):1143-1151.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
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