JAMES LUPSKI to Genetic Diseases, Inborn
This is a "connection" page, showing publications JAMES LUPSKI has written about Genetic Diseases, Inborn.
Connection Strength
7.349
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Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 11; 185(11):3294-3313.
Score: 0.529
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.421
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Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 03; 93(3):439-449.
Score: 0.409
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.388
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.382
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Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 06; 135(6):591-601.
Score: 0.368
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Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38.
Score: 0.362
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
Score: 0.299
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Digenic inheritance and Mendelian disease. Nat Genet. 2012 Dec; 44(12):1291-2.
Score: 0.289
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Genomic rearrangements and sporadic disease. Nat Genet. 2007 Jul; 39(7 Suppl):S43-7.
Score: 0.199
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Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6.
Score: 0.188
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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006 Oct; 14(10):1074-81.
Score: 0.185
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The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn. 2006; 1:1-16.
Score: 0.179
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 Dec 31; 18(1):16.
Score: 0.179
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005 Dec; 1(6):e49.
Score: 0.178
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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004 Feb; 41(2):113-9.
Score: 0.157
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2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet. 2003 Feb; 72(2):246-52.
Score: 0.146
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Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev. 2002 Jun; 12(3):312-9.
Score: 0.140
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Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002; 3:199-242.
Score: 0.138
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Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002 Feb; 18(2):74-82.
Score: 0.137
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Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
Score: 0.122
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.117
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.114
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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: 0.111
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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 Oct; 14(10):417-22.
Score: 0.108
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.102
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.101
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.097
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.097
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Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet. 1996 Jan; 58(1):21-7.
Score: 0.090
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.089
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
Score: 0.087
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Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92.
Score: 0.085
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.083
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Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 Oct 02; 95(4):345-59.
Score: 0.082
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.081
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.077
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.075
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Harnessing genomics to identify environmental determinants of heritable disease. Mutat Res. 2013 Jan-Mar; 752(1):6-9.
Score: 0.071
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5.
Score: 0.070
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Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev. 2012 Jun; 22(3):211-20.
Score: 0.069
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Human genome sequencing in health and disease. Annu Rev Med. 2012; 63:35-61.
Score: 0.068
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Structural variation in the human genome. N Engl J Med. 2007 Mar 15; 356(11):1169-71.
Score: 0.049
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Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 07 01; 108(7):1239-1250.
Score: 0.033