JAMES LUPSKI to DNA Mutational Analysis
This is a "connection" page, showing publications JAMES LUPSKI has written about DNA Mutational Analysis.
Connection Strength
1.682
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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: 0.151
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
Score: 0.092
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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27.
Score: 0.072
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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: 0.059
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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92.
Score: 0.051
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24.
Score: 0.047
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Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med. 2004; 36(4):262-72.
Score: 0.045
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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov; 22(5):395-403.
Score: 0.044
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
Score: 0.043
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An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44.
Score: 0.043
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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201.
Score: 0.039
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Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001 Nov; 42(12):2757-61.
Score: 0.038
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Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001 Nov 01; 10(23):2671-8.
Score: 0.038
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
Score: 0.036
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):67-70.
Score: 0.035
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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: 0.034
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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: 0.034
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Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet. 1999 Dec; 65(6):1672-9.
Score: 0.034
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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: 0.033
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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: 0.033
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The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999 Jul; 39(15):2537-44.
Score: 0.033
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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr; 18(4):382-4.
Score: 0.030
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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep; 17(3):451-60.
Score: 0.027
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
Score: 0.026
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.024
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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: 0.024
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Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?). Mutat Res Genet Toxicol Environ Mutagen. 2015 May 01; 783:36-54.
Score: 0.024
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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet. 1995 Jan; 56(1):91-8.
Score: 0.024
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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: 0.023
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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: 0.023
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Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014 Oct; 128(4):583-95.
Score: 0.023
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.023
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.023
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.022
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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 08; 93(2):357-67.
Score: 0.022
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Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR. PCR Methods Appl. 1992 Feb; 1(3):187-92.
Score: 0.019
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9.
Score: 0.019
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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010 Oct 08; 87(4):560-6.
Score: 0.018
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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82.
Score: 0.018
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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 10; 10(4):275-87.
Score: 0.016
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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: 0.016
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Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R. 2009 Jan; 1(1):5-13.
Score: 0.016
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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: 0.016
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Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43.
Score: 0.016
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Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70.
Score: 0.014
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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: 0.014
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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92.
Score: 0.013
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Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci. 2006 Apr; 47(4):1486-90.
Score: 0.013
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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006 Feb; 59(2):398-403.
Score: 0.013
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr; 42(4):358-65.
Score: 0.012
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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80.
Score: 0.012
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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May; 72(5):1187-99.
Score: 0.011
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002 Apr; 70(4):955-64.
Score: 0.010
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Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002 Feb; 43(2):466-73.
Score: 0.010
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20.
Score: 0.010
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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology. 1999 Jun 10; 52(9):1827-32.
Score: 0.008
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Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9.
Score: 0.008
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Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33.
Score: 0.006
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65.
Score: 0.005