RICHARD GIBBS to Female
This is a "connection" page, showing publications RICHARD GIBBS has written about Female.
Connection Strength
1.501
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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: 0.034
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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: 0.030
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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: 0.028
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The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.024
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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: 0.018
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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: 0.017
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Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 Feb; 18(2):138-40.
Score: 0.016
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Genomics: Gorilla gorilla gorilla. Nature. 2012 Mar 07; 483(7388):164-5.
Score: 0.015
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Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3.
Score: 0.015
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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: 0.013
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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: 0.013
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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: 0.010
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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: 0.010
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.007
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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: 0.007
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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: 0.007
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Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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High-depth African genomes inform human migration and health. Nature. 2020 10; 586(7831):741-748.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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Sawfly Genomes Reveal Evolutionary Acquisitions That Fostered the Mega-Radiation of Parasitoid and Eusocial Hymenoptera. Genome Biol Evol. 2020 07 01; 12(7):1099-1188.
Score: 0.007
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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: 0.007
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Shotgun sample sequence comparisons between mouse and human genomes. Nat Genet. 2000 May; 25(1):31-3.
Score: 0.007
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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Genetics of schizophrenia in the South African Xhosa. Science. 2020 01 31; 367(6477):569-573.
Score: 0.007
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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: 0.007
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Prospective virome analyses in young children at increased genetic risk for type 1 diabetes. Nat Med. 2019 12; 25(12):1865-1872.
Score: 0.007
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.007
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.007
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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: 0.007
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067.
Score: 0.006
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406.
Score: 0.006
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.006
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.006
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Score: 0.006
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Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. J Mol Diagn. 2019 05; 21(3):449-461.
Score: 0.006
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Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 04 11; 9(1):5941.
Score: 0.006
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Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224.
Score: 0.006
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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 09; 70(3):899-910.
Score: 0.006
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.006
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.006
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The comparative genomics and complex population history of Papio baboons. Sci Adv. 2019 01; 5(1):eaau6947.
Score: 0.006
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Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
Score: 0.006
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Temporal development of the gut microbiome in early childhood from the TEDDY study. Nature. 2018 10; 562(7728):583-588.
Score: 0.006
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Evaluation of Margin Status of a Breast Lumpectomy Specimen: What the Radiologist Should Know. Curr Probl Diagn Radiol. 2019 Nov - Dec; 48(6):599-604.
Score: 0.006
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The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 1998 Sep 14; 217(1-2):101-6.
Score: 0.006
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SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 09 01; 141(9):2576-2591.
Score: 0.006
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 08; 25(8):1859-1875.
Score: 0.006
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Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 Aug; 35(8):646-9.
Score: 0.006
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
Score: 0.006
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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
Score: 0.006
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.006
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131.
Score: 0.006
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.006
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.006
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. 2018 06; 209(2):607-616.
Score: 0.006
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Antihypertensive medication adherence in chronic type B aortic dissection is an important consideration in the management debate. J Vasc Surg. 2018 09; 68(3):693-699.e2.
Score: 0.006
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MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A. 2018 03 13; 115(11):2806-2811.
Score: 0.006
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Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds. Nat Commun. 2018 02 28; 9(1):859.
Score: 0.006
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A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae). Sci Rep. 2018 01 31; 8(1):1931.
Score: 0.006
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Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 01 03; 553(7686):77-81.
Score: 0.006
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.006
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Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 Nov 16; 15(1):110.
Score: 0.006
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Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC). Atherosclerosis. 2018 01; 268:12-18.
Score: 0.006
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95.
Score: 0.006
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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: 0.006
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Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 09 01; 26(17):3442-3450.
Score: 0.006
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan; 97(1):49-59.
Score: 0.006
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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct; 173(10):2789-2794.
Score: 0.006
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Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4).
Score: 0.006
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The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 07 31; 15(1):62.
Score: 0.006
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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.006
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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: 0.006
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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 08; 121(4):314-319.
Score: 0.006
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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 Sep; 173(9):2451-2455.
Score: 0.006
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.005
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Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thromb Haemost. 2017 06 02; 117(6):1083-1092.
Score: 0.005
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617.
Score: 0.005
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.005
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.005
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Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 03 02; 543(7643):65-71.
Score: 0.005
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr; 62(4):465-471.
Score: 0.005
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Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Hum Mol Genet. 2016 12 01; 25(23):5234-5243.
Score: 0.005
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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: 0.005
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.005
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.005
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
Score: 0.005
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Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001255.
Score: 0.005
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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2017 05; 64(5).
Score: 0.005
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The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res. 2016 12; 26(12):1651-1662.
Score: 0.005
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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: 0.005
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.005
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.005
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Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
Score: 0.005
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Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.005
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.005
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
Score: 0.005
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.005
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A comprehensive transcriptional map of primate brain development. Nature. 2016 07 21; 535(7612):367-75.
Score: 0.005
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.005
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Short- and Long-term Results of Hybrid Arch and Proximal Descending Thoracic Aortic Repair: A Benchmark for New Technologies. J Endovasc Ther. 2016 10; 23(5):783-90.
Score: 0.005
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Genome-culture coevolution promotes rapid divergence of killer whale ecotypes. Nat Commun. 2016 05 31; 7:11693.
Score: 0.005
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 08; 37(8):804-11.
Score: 0.005
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 01; 19(1):13-19.
Score: 0.005
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PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 07; 60:83-7.
Score: 0.005
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.005
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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: 0.005
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.005
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Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 08; 24(9):1337-43.
Score: 0.005
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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: 0.005
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78.
Score: 0.005
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.005
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.005
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Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 Feb; 9(1):64-70.
Score: 0.005
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.005
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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: 0.005
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
Score: 0.005
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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: 0.005
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Structure and function of the healthy pre-adolescent pediatric gut microbiome. Microbiome. 2015 Aug 26; 3:36.
Score: 0.005
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.005
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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2795-9.
Score: 0.005
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Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions. Nat Commun. 2015 Jun 25; 6:7344.
Score: 0.005
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Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med. 2015 Jun 25; 372(26):2481-98.
Score: 0.005
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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 Aug; 8(4):544-52.
Score: 0.005
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The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
Score: 0.005
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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: 0.005
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3.
Score: 0.005
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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: 0.005
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Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
Score: 0.005
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Accurate determination of DNA in agarose gels using the novel algorithm GelScann(1.0). Comput Appl Biosci. 1995 Apr; 11(2):187-94.
Score: 0.005
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Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14.
Score: 0.005
-
FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.005
-
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 Feb; 20(2):176-82.
Score: 0.005
-
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
Score: 0.005
-
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.005
-
Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 Jan 15; 372(3):295-6.
Score: 0.005
-
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.005
-
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 Apr; 8(2):351-5.
Score: 0.005
-
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan; 100(1):E140-7.
Score: 0.005
-
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015; 36(3):270-5.
Score: 0.005
-
Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.005
-
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol. 2014 Dec; 178(3):459-69.
Score: 0.005
-
The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 Nov; 12(11):e1002005.
Score: 0.005
-
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.005
-
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.005
-
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 Jan 15; 24(2):559-71.
Score: 0.005
-
A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
Score: 0.005
-
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: 0.005
-
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov; 99(11):E2451-6.
Score: 0.005
-
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: 0.005
-
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6.
Score: 0.005
-
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.005
-
Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
Score: 0.005
-
Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014; 9(6):e99798.
Score: 0.005
-
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 03; 95(1):96-107.
Score: 0.005
-
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 01; 23(21):5774-80.
Score: 0.005
-
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
Score: 0.005
-
Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 Jul 10; 511(7508):241-5.
Score: 0.005
-
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.005
-
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):344-9.
Score: 0.005
-
ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):350-8.
Score: 0.005
-
Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):359-64.
Score: 0.005
-
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet. 2014 Jun; 7(3):365-73.
Score: 0.005
-
Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):374-382.
Score: 0.005
-
Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res. 2014 Jul 15; 20(14):3842-8.
Score: 0.005
-
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014 Apr 24; 508(7497):494-9.
Score: 0.004
-
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.004
-
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 Jul; 24(7):1193-208.
Score: 0.004
-
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258.
Score: 0.004
-
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
Score: 0.004
-
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.004
-
A preseason cardiorespiratory profile of dancers in nine professional ballet and modern companies. J Dance Med Sci. 2014; 18(2):74-85.
Score: 0.004
-
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.004
-
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.004
-
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 Mar; 11(3):452-7.
Score: 0.004
-
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov; 28(11):2333-7.
Score: 0.004
-
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.004
-
The somatic genomic landscape of glioblastoma. Cell. 2013 Oct 10; 155(2):462-77.
Score: 0.004
-
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30.
Score: 0.004
-
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis. J Thromb Haemost. 2013 Jul; 11(7):1228-39.
Score: 0.004
-
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000.
Score: 0.004
-
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16.
Score: 0.004
-
Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.004
-
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
Score: 0.004
-
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 Jun; 60(6):E1-3.
Score: 0.004
-
CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 Jun; 18(6):700-7.
Score: 0.004
-
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: 0.004
-
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15; 21(22):4904-9.
Score: 0.004
-
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.004
-
Landscape of somatic retrotransposition in human cancers. Science. 2012 Aug 24; 337(6097):967-71.
Score: 0.004
-
Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis. Genome Res. 2012 Oct; 22(10):2079-87.
Score: 0.004
-
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012 Jul 12; 120(2):440-8.
Score: 0.004
-
Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma. PLoS One. 2012; 7(3):e34546.
Score: 0.004
-
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. BMC Med Genomics. 2012 Feb 21; 5:7.
Score: 0.004
-
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9.
Score: 0.004
-
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.004
-
Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11236-40.
Score: 0.004
-
The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 1991 Dec 15; 108(2):299-304.
Score: 0.004
-
Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A. 2011 Nov 15; 108(46):E1128-36.
Score: 0.004
-
Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. Genome Biol. 2011 Aug 29; 12(8):R81.
Score: 0.004
-
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7.
Score: 0.004
-
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 2011 Mar 04; 144(5):703-18.
Score: 0.004
-
Comparative and demographic analysis of orang-utan genomes. Nature. 2011 Jan 27; 469(7331):529-33.
Score: 0.004
-
Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 2011 Jul 01; 117(13):2863-72.
Score: 0.004
-
A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28; 467(7319):1061-73.
Score: 0.004
-
Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential. PLoS One. 2010 Aug 26; 5(8):e12411.
Score: 0.003
-
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 Jun; 7(2):235-44.
Score: 0.003
-
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.003
-
Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.003
-
Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43.
Score: 0.003
-
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res. 2008 Oct; 18(10):1571-81.
Score: 0.003
-
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: 0.003
-
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.
Score: 0.002
-
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
-
The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
-
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: 0.002
-
Intranasal immunization with HIV reverse transcriptase: effect of dose in the induction of helper T cell type 1 and 2 immunity. AIDS Res Hum Retroviruses. 2000 Dec 10; 16(18):2009-17.
Score: 0.002
-
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: 0.002
-
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
-
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
-
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
-
Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 Jul 21; 336(8708):134-6.
Score: 0.001
-
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
-
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
-
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