RICHARD GIBBS to Humans
This is a "connection" page, showing publications RICHARD GIBBS has written about Humans.
Connection Strength
2.439
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Empowering personalized pharmacogenomics with generative AI solutions. J Am Med Inform Assoc. 2024 May 20; 31(6):1356-1366.
Score: 0.025
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Patient Reported Outcome Measures Used to Assess Quality of Life in Aortic Dissection: a Systematic Scoping Review using COSMIN Methodology. Eur J Vasc Endovasc Surg. 2023 09; 66(3):343-350.
Score: 0.024
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.022
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2021 Allan Award. Am J Hum Genet. 2022 03 03; 109(3):384-386.
Score: 0.022
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Coverage of the Coeliac Artery During Thoracic Endovascular Aortic Repair: A Systematic Review and Meta-Analysis. Eur J Vasc Endovasc Surg. 2022 06; 63(6):828-837.
Score: 0.021
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
Score: 0.021
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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 12; 23(12):2404-2414.
Score: 0.021
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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 09; 4(9).
Score: 0.021
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Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 07 01; 108(7):1239-1250.
Score: 0.020
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Genomic considerations for FHIR?; eMERGE implementation lessons. J Biomed Inform. 2021 06; 118:103795.
Score: 0.020
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591.
Score: 0.020
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The Human Genome Project changed everything. Nat Rev Genet. 2020 10; 21(10):575-576.
Score: 0.020
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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med. 2020 10; 8(10):e1439.
Score: 0.019
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ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc. 2019 11 01; 26(11):1370-1374.
Score: 0.018
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.018
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Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.018
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.018
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The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.016
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An open access pilot freely sharing cancer genomic data from participants in Texas. Sci Data. 2016 Feb 16; 3:160010.
Score: 0.014
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.013
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214.
Score: 0.013
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.012
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Comparative primate genomics: emerging patterns of genome content and dynamics. Nat Rev Genet. 2014 May; 15(5):347-59.
Score: 0.012
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. 2013 Nov 01; 22(21):4329-38.
Score: 0.012
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Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 Feb; 18(2):138-40.
Score: 0.011
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Genomics: Gorilla gorilla gorilla. Nature. 2012 Mar 07; 483(7388):164-5.
Score: 0.011
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Human genome sequencing in health and disease. Annu Rev Med. 2012; 63:35-61.
Score: 0.011
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.010
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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 Jul 25; 12(7):R68.
Score: 0.010
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Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiol Genomics. 2011 Sep 22; 43(18):1029-37.
Score: 0.010
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Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3.
Score: 0.010
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Genome-sequencing anniversary. Bringing genomics and genetics back together. Science. 2011 Feb 04; 331(6017):548.
Score: 0.010
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.
Score: 0.010
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Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010; 11(6):R62.
Score: 0.010
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.009
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Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. Am J Clin Nutr. 2010 Jan; 91(1):191-9.
Score: 0.009
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Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 05; 150B(7):960-6.
Score: 0.009
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Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 Nov; 4(11):903-5.
Score: 0.008
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Community annotation: procedures, protocols, and supporting tools. Genome Res. 2006 Nov; 16(11):1329-33.
Score: 0.007
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.007
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Genetics. No longer de-identified. Science. 2006 Apr 21; 312(5772):370-1.
Score: 0.007
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Meeting the growing demands of genetic research. J Law Med Ethics. 2006; 34(4):809-12.
Score: 0.007
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Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41.
Score: 0.007
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
Score: 0.007
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Generation of personalized synthetic 3-dimensional inlet velocity profiles for computational fluid dynamics simulations of type B aortic dissection. Comput Biol Med. 2025 Jun; 191:110158.
Score: 0.007
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K-mer analysis of long-read alignment pileups for structural variant genotyping. Nat Commun. 2025 Apr 04; 16(1):3218.
Score: 0.007
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Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 Feb; 15(2):269-75.
Score: 0.007
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Pooled genomic indexing of rhesus macaque. Genome Res. 2005 Feb; 15(2):292-301.
Score: 0.007
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Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. PLoS One. 2025; 20(1):e0317033.
Score: 0.007
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.007
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143.
Score: 0.007
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.006
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.006
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Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. Am J Hum Genet. 2024 Oct 03; 111(10):2129-2138.
Score: 0.006
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.006
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Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium. Hum Mol Genet. 2024 08 06; 33(16):1429-1441.
Score: 0.006
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.006
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Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041.
Score: 0.006
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Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients. Sci Rep. 2024 04 18; 14(1):8988.
Score: 0.006
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 04 16; 17(1):85.
Score: 0.006
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.006
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
Score: 0.006
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?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 Mar 15; 212(6):962-973.
Score: 0.006
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Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group. JAMA Netw Open. 2024 03 04; 7(3):e244170.
Score: 0.006
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 Mar 03; 17(1):62.
Score: 0.006
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Endocrine-Sensitive Disease Rate in Postmenopausal Patients With Estrogen Receptor-Rich/ERBB2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, or Their Combination: A Phase 3 Randomized Clinical Trial. JAMA Oncol. 2024 Mar 01; 10(3):362-371.
Score: 0.006
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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 02 19; 7(1):174.
Score: 0.006
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Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004; 4(4):253-62.
Score: 0.006
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Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 12; 16(6):e004176.
Score: 0.006
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.006
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
Score: 0.006
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Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 10 05; 110(10):1704-1717.
Score: 0.006
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Concatenation cDNA sequencing for transcriptome analysis. C R Biol. 2003 Oct-Nov; 326(10-11):971-7.
Score: 0.006
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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023 09 30; 14(1):6113.
Score: 0.006
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
Score: 0.006
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Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023; 40(8):719-738.
Score: 0.006
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349.
Score: 0.006
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The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
Score: 0.006
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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
Score: 0.006
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Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 04; 16(2):e003532.
Score: 0.006
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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 06; 191(6):1546-1556.
Score: 0.006
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Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 03 06; 32(6):1048-1060.
Score: 0.006
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Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 03 01; 8(3):258-267.
Score: 0.006
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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 04; 16(2):e003816.
Score: 0.006
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.006
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Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
Score: 0.006
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An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23).
Score: 0.006
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
Score: 0.006
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Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer. Cancer Discov. 2022 11 02; 12(11):2586-2605.
Score: 0.006
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.006
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Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 12; 15(6):e003605.
Score: 0.006
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Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 Oct 11; 13(1):5995.
Score: 0.006
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Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function. Hypertension. 2022 11; 79(11):2573-2582.
Score: 0.006
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Functional characteristics of a broad spectrum of TBX6?variants in Mayer-Rokitansky-K?ster-Hauser syndrome. Genet Med. 2022 11; 24(11):2262-2273.
Score: 0.006
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Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease. Nat Commun. 2022 09 12; 13(1):5350.
Score: 0.006
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Whole-exome sequencing of 14?389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 09 10; 31(18):3120-3132.
Score: 0.006
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.006
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Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.
Score: 0.006
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Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 06 01; 8(6):835-844.
Score: 0.005
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.005
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
Score: 0.005
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
Score: 0.005
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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med. 2022 03 28; 14(1):34.
Score: 0.005
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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161.
Score: 0.005
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Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 05; 24(5):1062-1072.
Score: 0.005
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Multiple Respiratory Syncytial Virus (RSV) Strains Infecting HEp-2 and A549 Cells Reveal Cell Line-Dependent Differences in Resistance to RSV Infection. J Virol. 2022 04 13; 96(7):e0190421.
Score: 0.005
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Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
Score: 0.005
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Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797.
Score: 0.005
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The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
Score: 0.005
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Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56.
Score: 0.005
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Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 08; 43(8):1114-1121.
Score: 0.005
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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 01 06; 109(1):81-96.
Score: 0.005
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.005
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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 02; 188(2):648-657.
Score: 0.005
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Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 2001 Nov; 11(11):1807-16.
Score: 0.005
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Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections. BMC Med. 2021 10 01; 19(1):255.
Score: 0.005
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.005
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
Score: 0.005
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Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808.
Score: 0.005
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.005
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Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 11; 22(7):960-968.
Score: 0.005
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
Score: 0.005
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Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.
Score: 0.005
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Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling. JCO Precis Oncol. 2021; 5.
Score: 0.005
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Technical Note: Left Subclavian Artery Scallop Endografts to Facilitate a Proximal Landing Zone and Upper Extremity Access for Branched Endovascular Aortic Repair of Type II Thoracoabdominal Aortic Aneurysms. Cardiovasc Intervent Radiol. 2021 Oct; 44(10):1657-1662.
Score: 0.005
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Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846.
Score: 0.005
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 07 01; 113(7):875-883.
Score: 0.005
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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: 0.005
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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: 0.005
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Four-year results of the Bolton relay proximal scallop endograft in the management of thoracic and thoracoabdominal aortic pathology with unfavorable proximal landing zone. J Vasc Surg. 2021 11; 74(5):1447-1455.
Score: 0.005
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182.
Score: 0.005
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.005
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muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
Score: 0.005
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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718.
Score: 0.005
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 Feb; 590(7845):290-299.
Score: 0.005
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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: 0.005
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Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome. Am J Hum Genet. 2021 02 04; 108(2):337-345.
Score: 0.005
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DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association. Commun Biol. 2021 02 03; 4(1):155.
Score: 0.005
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NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531.
Score: 0.005
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.005
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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 11 19; 11(1):5903.
Score: 0.005
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Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 12; 30(12):1716-1726.
Score: 0.005
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High-depth African genomes inform human migration and health. Nature. 2020 10; 586(7831):741-748.
Score: 0.005
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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: 0.005
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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: 0.005
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NF-?B and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells. Life Sci. 2020 Dec 01; 262:118548.
Score: 0.005
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Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 10 01; 130(10):5272-5286.
Score: 0.005
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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.
Score: 0.005
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.
Score: 0.005
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207.
Score: 0.005
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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: 0.005
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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: 0.005
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.
Score: 0.005
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Shotgun sample sequence comparisons between mouse and human genomes. Nat Genet. 2000 May; 25(1):31-3.
Score: 0.005
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.005
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Cultivating DNA Sequencing Technology After the Human Genome Project. Annu Rev Genomics Hum Genet. 2020 08 31; 21:117-138.
Score: 0.005
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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: 0.005
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Short- and long-term outcomes in isolated penetrating aortic ulcer disease. J Vasc Surg. 2020 07; 72(1):84-91.
Score: 0.005
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The human transcript database: a catalogue of full length cDNA inserts. Bioinformatics. 2000 Feb; 16(2):176-7.
Score: 0.005
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Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 02 01; 49(1):23-24k.
Score: 0.005
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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470.
Score: 0.005
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Genetics of schizophrenia in the South African Xhosa. Science. 2020 01 31; 367(6477):569-573.
Score: 0.005
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130.
Score: 0.005
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Score: 0.002
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Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science. 1987 Apr 17; 236(4799):303-5.
Score: 0.002
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Comparative analysis of the bovine MHC class IIb sequence identifies inversion breakpoints and three unexpected genes. Anim Genet. 2006 Apr; 37(2):121-9.
Score: 0.002
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.002
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.002
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SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 Oct; 1(5):e53.
Score: 0.002
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Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005 Nov 15; 192(10):1741-8.
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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005 Aug; 15(8):1034-50.
Score: 0.002
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Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. Genet Med. 2005 Jul-Aug; 7(6):454-5.
Score: 0.002
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct; 14(10B):2121-7.
Score: 0.002
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Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia. Proc Natl Acad Sci U S A. 2004 Aug 24; 101(34):12604-9.
Score: 0.002
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Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome. Genome Res. 2004 Apr; 14(4):580-90.
Score: 0.002
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Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Res. 2004 Apr; 14(4):665-71.
Score: 0.002
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Novel potential ALL low-risk markers revealed by gene expression profiling with new high-throughput SSH-CCS-PCR. Leukemia. 2003 Sep; 17(9):1891-900.
Score: 0.001
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Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 May; 72(5):1131-40.
Score: 0.001
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26):16899-903.
Score: 0.001
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Molecular evidence of HIV-1 transmission in a criminal case. Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22):14292-7.
Score: 0.001
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Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.
Score: 0.001
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Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics. 2000 Jul 15; 67(2):109-27.
Score: 0.001
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Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet. 1999 Dec; 8(13):2425-36.
Score: 0.001
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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: 0.001
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Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 Jun; 7(6):642-8.
Score: 0.001
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Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr; 7(4):315-29.
Score: 0.001
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Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 Jul; 5(7):899-912.
Score: 0.001
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
Score: 0.001
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97.
Score: 0.001
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Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
Score: 0.001
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Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 Nov; 1(8):645-6.
Score: 0.001
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A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 Jul; 13(3):594-600.
Score: 0.001
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Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 Nov; 49(5):951-60.
Score: 0.001
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Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 Sep 15; 88(18):8067-71.
Score: 0.001
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Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61.
Score: 0.001
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Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 Jul 21; 336(8708):134-6.
Score: 0.001
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PCR test for cystic fibrosis deletion. Nature. 1990 Jan 18; 343(6255):220.
Score: 0.001
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Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989; 102:185-94.
Score: 0.001
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 09; 16(23):11141-56.
Score: 0.001
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Diagnosis of human heritable defects by recombinant DNA methods. Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15; 319(1194):353-60.
Score: 0.001