JAMES LUPSKI to Genetic Predisposition to Disease
This is a "connection" page, showing publications JAMES LUPSKI has written about Genetic Predisposition to Disease.
Connection Strength
5.180
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2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility. Am J Hum Genet. 2025 Mar 06; 112(3):467-469.
Score: 0.423
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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 04; 185(4):1288-1293.
Score: 0.319
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156.
Score: 0.249
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Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015 06; 56(5):419-36.
Score: 0.213
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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep; 167A(9):2132-7.
Score: 0.213
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Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54.
Score: 0.177
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.167
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Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55.
Score: 0.148
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Schizophrenia: Incriminating genomic evidence. Nature. 2008 Sep 11; 455(7210):178-9.
Score: 0.135
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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83.
Score: 0.106
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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet. 2004 Apr 01; 13 Spec No 1:R57-64.
Score: 0.098
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. Hum Genet. 2023 Jun; 142(6):721-733.
Score: 0.093
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.082
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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.081
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 05 20; 48(5):396-402.
Score: 0.080
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Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 Mar; 66(1):192-198.
Score: 0.080
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.078
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.078
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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.078
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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.
Score: 0.076
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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.075
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.074
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80.
Score: 0.074
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
Score: 0.073
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.073
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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 01; 41(1):182-195.
Score: 0.073
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
Score: 0.072
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909.
Score: 0.067
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet. 2018 Jul; 137(6-7):553-567.
Score: 0.067
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.066
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.066
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Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 04; 93(4):919-924.
Score: 0.065
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Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 03; 93(3):439-449.
Score: 0.064
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 11; 25(11):1246-1252.
Score: 0.063
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Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320.
Score: 0.060
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.059
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 11; 18(11):1158-1162.
Score: 0.057
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 06 01; 25(11):2331-2341.
Score: 0.057
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Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38.
Score: 0.057
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TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.
Score: 0.052
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.047
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Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 Oct 15; 72(8):617-9.
Score: 0.045
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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013 Jan; 34(1):191-9.
Score: 0.045
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Interruption of SOX10 function in myelinopathies. Ann Neurol. 2010 Aug; 68(2):121-3.
Score: 0.038
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.037
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Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve. 2009 Jan; 39(1):116-25.
Score: 0.034
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Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009 Jan 13; 72(2):185-92.
Score: 0.034
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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec 28; 131(7):1235-47.
Score: 0.032
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Structural variation in the human genome. N Engl J Med. 2007 Mar 15; 356(11):1169-71.
Score: 0.030
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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32.
Score: 0.030
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Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach. Am J Hum Genet. 2025 Jul 03; 112(7):1664-1680.
Score: 0.027
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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9).
Score: 0.025
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Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30; 121(18):e2310283121.
Score: 0.025
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.025
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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 Jun; 105(6):620-629.
Score: 0.025
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Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003 Sep; 51(5):261-83.
Score: 0.024
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Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001 Jun; 131(6):761-6.
Score: 0.020
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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet. 2021 Jul; 140(7):1011-1029.
Score: 0.020
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 05; 182(5):1143-1151.
Score: 0.019
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.018
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Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. Acta Cardiol. 2020 Dec; 75(8):748-753.
Score: 0.018
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 02 12; 10(1):708.
Score: 0.017
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.017
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Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1442-1444.
Score: 0.015
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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis. Stem Cell Reports. 2017 03 14; 8(3):519-528.
Score: 0.015
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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 01; 25(1):73-78.
Score: 0.015
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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 12; 135(12):1399-1409.
Score: 0.015
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.014
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.014
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.014
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
Score: 0.013
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.013
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Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 Oct; 35(10):1187-94.
Score: 0.013
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Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Baillieres Clin Neurol. 1994 Aug; 3(2):373-85.
Score: 0.013
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Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90.
Score: 0.013
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Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 Jul 24; 310(4):365-6.
Score: 0.012
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Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease. Transl Psychiatry. 2012 Nov 20; 2:e192.
Score: 0.011
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The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Res. 2013 Feb; 6(1):42-50.
Score: 0.011
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Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat. 2013 Jan; 34(1):210-20.
Score: 0.011
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.011
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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet. 2013 Jan; 83(1):66-72.
Score: 0.011
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.008