JAMES LUPSKI to Exons
This is a "connection" page, showing publications JAMES LUPSKI has written about Exons.
Connection Strength
1.984
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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: 0.440
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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: 0.111
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.100
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Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet. 2016 Feb; 135(2):253-6.
Score: 0.099
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.086
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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92.
Score: 0.072
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New mutations and intellectual function. Nat Genet. 2010 Dec; 42(12):1036-8.
Score: 0.070
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.069
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Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71.
Score: 0.065
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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 2009 Jul; 41(7):849-53.
Score: 0.063
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Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001 Sep-Oct; 3(5):335-42.
Score: 0.037
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EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7.
Score: 0.036
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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 2001 Mar; 3(2):107-9.
Score: 0.035
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.034
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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun; 37(6):428-33.
Score: 0.034
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
Score: 0.034
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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000 Feb 12; 9(3):367-74.
Score: 0.033
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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: 0.029
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 01; 49(3):394-400.
Score: 0.029
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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: 0.029
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Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998 Feb; 62(2):325-33.
Score: 0.029
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603.
Score: 0.028
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Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics. 1997 May 15; 42(1):46-54.
Score: 0.027
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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 1997 May 15; 42(1):161-4.
Score: 0.027
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar; 15(3):236-46.
Score: 0.027
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Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. Hum Mutat. 1997; 10(1):21-4.
Score: 0.027
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 08 04; 99(2):318-36.
Score: 0.026
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.025
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.025
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Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45.
Score: 0.025
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.025
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Settling the myelin protein zero question in CMT1B. Nat Genet. 1995 Oct; 11(2):119-20.
Score: 0.024
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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.
Score: 0.023
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Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806.
Score: 0.022
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6.
Score: 0.021
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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: 0.021
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461.
Score: 0.020
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.019
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Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet. 2009 Dec; 5(12):e1000759.
Score: 0.016
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Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet. 2007 Nov 01; 16(21):2560-71.
Score: 0.014
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8.
Score: 0.010