Co-Authors
This is a "connection" page, showing publications co-authored by RICHARD GIBBS and DONNA MUZNY.
Connection Strength
16.220
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.288
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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: 0.248
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Genetic Sex Validation for Sample Tracking in Clinical Testing. Res Sq. 2023 Sep 11.
Score: 0.240
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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: 0.224
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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: 0.208
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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: 0.207
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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: 0.207
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Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals. bioRxiv. 2020 Dec 11.
Score: 0.198
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Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 Jan 14; 2(1).
Score: 0.197
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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: 0.194
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. bioRxiv. 2020 Jul 27.
Score: 0.193
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.183
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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: 0.176
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 Oct 03; 18(Suppl 6):691.
Score: 0.159
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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: 0.142
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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: 0.134
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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: 0.133
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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: 0.125
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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013; 5(6):57.
Score: 0.118
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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: 0.118
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Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012; 7(11):e47768.
Score: 0.113
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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: 0.103
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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: 0.103
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Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3.
Score: 0.103
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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: 0.099
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Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010; 11(6):R62.
Score: 0.096
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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: 0.094
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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: 0.091
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Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 Nov; 4(11):903-5.
Score: 0.080
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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 Apr 03; 16(1):53.
Score: 0.062
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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: 0.062
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Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 Mar 18.
Score: 0.062
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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 Mar 04; 7(3):e244170.
Score: 0.062
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Tryptophan Metabolites And Their Predicted Microbial Sources In Fecal Samples From Healthy Individuals. bioRxiv. 2024 Feb 01.
Score: 0.062
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Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024; 10(1):vead086.
Score: 0.061
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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: 0.061
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
Score: 0.060
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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: 0.059
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Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. Res Sq. 2023 Jun 05.
Score: 0.059
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Functional Genomics of Gastrointestinal Escherichia coli Isolated from Patients with Cancer and Diarrhea. bioRxiv. 2023 Jun 01.
Score: 0.059
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Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. bioRxiv. 2023 May 25.
Score: 0.059
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The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
Score: 0.058
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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: 0.058
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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: 0.058
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Modeling nonsegmented negative-strand RNA virus (NNSV) transcription with ejective polymerase collisions and biased diffusion. Front Mol Biosci. 2022; 9:1095193.
Score: 0.057
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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: 0.057
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 Dec 28; 12.
Score: 0.057
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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: 0.056
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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: 0.056
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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: 0.056
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Author Correction: Comparative and demographic analysis of orang-utan genomes. Nature. 2022 Aug; 608(7924):E36.
Score: 0.056
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Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.
Score: 0.055
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Genome Sequencing in the Parkinson Disease Clinic. Neurol Genet. 2022 Aug; 8(4):e200002.
Score: 0.055
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
Score: 0.055
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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: 0.054
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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: 0.054
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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: 0.054
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Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
Score: 0.054
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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: 0.053
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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: 0.053
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 Jan 13; 3(1):100074.
Score: 0.053
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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: 0.052
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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: 0.052
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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: 0.052
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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: 0.052
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Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.
Score: 0.052
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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: 0.052
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Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846.
Score: 0.052
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Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections. medRxiv. 2021 Jul 12.
Score: 0.052
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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: 0.051
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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: 0.051
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Author Correction: High-depth African genomes inform human migration and health. Nature. 2021 Apr; 592(7856):E26.
Score: 0.051
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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: 0.050
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Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression. PLoS Biol. 2020 12; 18(12):e3000954.
Score: 0.049
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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: 0.049
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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: 0.049
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Correction to: Genome-enabled insights into the biology of thrips as crop pests. BMC Biol. 2020 Nov 16; 18(1):169.
Score: 0.049
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High-depth African genomes inform human migration and health. Nature. 2020 10; 586(7831):741-748.
Score: 0.049
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Genome-enabled insights into the biology of thrips as crop pests. BMC Biol. 2020 10 19; 18(1):142.
Score: 0.049
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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: 0.049
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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: 0.049
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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: 0.049
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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: 0.048
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Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 Aug; 25(8):1901-1903.
Score: 0.048
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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: 0.048
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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: 0.048
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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: 0.048
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Loss of the Polyketide Synthase StlB Results in Stalk Cell Overproduction in Polysphondylium violaceum. Genome Biol Evol. 2020 05 01; 12(5):674-683.
Score: 0.047
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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: 0.047
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Brown marmorated stink bug, Halyomorpha halys (St?l), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest. BMC Genomics. 2020 Mar 14; 21(1):227.
Score: 0.047
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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: 0.047
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Gene content evolution in the arthropods. Genome Biol. 2020 01 23; 21(1):15.
Score: 0.047
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Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 Mar; 4(3):e10335.
Score: 0.047
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.046
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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: 0.046
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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: 0.046
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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019; 4:19.
Score: 0.045
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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: 0.045
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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: 0.045
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.045
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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: 0.045
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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: 0.044
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.044
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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: 0.044
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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: 0.044
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Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. Genome Biol. 2019 04 02; 20(1):64.
Score: 0.044
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Correction to: 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 03 25; 11(1):16.
Score: 0.044
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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: 0.044
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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: 0.044
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.044
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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: 0.044
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The comparative genomics and complex population history of Papio baboons. Sci Adv. 2019 01; 5(1):eaau6947.
Score: 0.044
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.043
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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: 0.043
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The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water. BMC Genomics. 2018 Nov 21; 19(1):832.
Score: 0.043
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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: 0.043
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.043
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Reproductive Longevity Predicts Mutation Rates in Primates. Curr Biol. 2018 10 08; 28(19):3193-3197.e5.
Score: 0.043
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Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285.
Score: 0.042
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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: 0.042
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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: 0.042
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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: 0.042
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.042
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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: 0.041
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Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. BMC Biol. 2018 05 18; 16(1):54.
Score: 0.041
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Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018 05; 11(5):e001663.
Score: 0.041
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.041
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Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer. Cell. 2018 05 03; 173(4):864-878.e29.
Score: 0.041
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.041
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. 2018 06; 209(2):607-616.
Score: 0.041
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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: 0.041
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.041
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Hemimetabolous genomes reveal molecular basis of termite eusociality. Nat Ecol Evol. 2018 03; 2(3):557-566.
Score: 0.041
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Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7.
Score: 0.040
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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: 0.040
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.040
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The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 2017 Nov 25; 5(1):153.
Score: 0.040
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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: 0.040
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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: 0.040
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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: 0.040
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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: 0.039
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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: 0.039
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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: 0.039
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Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda. Mol Biol Evol. 2017 08 01; 34(8):1838-1862.
Score: 0.039
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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: 0.039
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Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4):e174.
Score: 0.039
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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: 0.039
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Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. BMC Genomics. 2017 05 22; 18(1):396.
Score: 0.039
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Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 07; 25(7):1270-1276.
Score: 0.039
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Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017 05; 69(5):325-339.
Score: 0.038
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.038
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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: 0.038
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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: 0.038
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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: 0.038
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.038
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.038
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Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2017 01 18; 18(1):11.
Score: 0.038
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 02 02; 100(2):205-215.
Score: 0.038
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.038
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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: 0.037
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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: 0.037
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.037
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Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biol. 2016 11 11; 17(1):227.
Score: 0.037
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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: 0.037
-
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: 0.037
-
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: 0.037
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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: 0.037
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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: 0.037
-
The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2016 09 22; 17(1):192.
Score: 0.037
-
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med. 2016 Nov; 4(6):604-616.
Score: 0.037
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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: 0.037
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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: 0.037
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Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 09 01; 99(3):785.
Score: 0.037
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Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.037
-
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8.
Score: 0.037
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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: 0.037
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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: 0.037
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.037
-
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: 0.036
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SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016; 11:8.
Score: 0.036
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.036
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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: 0.036
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.036
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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: 0.036
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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 May 01; 2(5):616-624.
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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: 0.036
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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: 0.036
-
Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89.
Score: 0.036
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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud. 2016 Mar; 2(2):a000703.
Score: 0.036
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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: 0.036
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
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Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 08; 24(9):1337-43.
Score: 0.035
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Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016 Feb 02; 14(4):907-919.
Score: 0.035
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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.
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78.
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.035
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.035
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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.
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
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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.
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Hemichordate genomes and deuterostome origins. Nature. 2015 Nov 26; 527(7579):459-65.
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Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94.
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Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes. Nat Genet. 2015 Dec; 47(12):1426-34.
Score: 0.035
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Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med. 2016 Jan 14; 374(2):135-45.
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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.
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
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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.
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Structure and function of the healthy pre-adolescent pediatric gut microbiome. Microbiome. 2015 Aug 26; 3:36.
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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.
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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.
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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016; 26:7-12.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
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Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015; 7(1):54.
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Genomic signatures of cooperation and conflict in the social amoeba. Curr Biol. 2015 Jun 15; 25(12):1661-5.
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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.
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Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. 2015 Jun; 47(6):640-2.
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The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
Score: 0.034
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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: 0.034
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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: 0.033
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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.
Score: 0.033
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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. PLoS One. 2015; 10(3):e0121644.
Score: 0.033
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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.
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16S gut community of the Cameron County Hispanic Cohort. Microbiome. 2015; 3:7.
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
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The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics. 2015 Feb 28; 16:143.
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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
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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.
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29; 6:5897.
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Convergent evolution of the genomes of marine mammals. Nat Genet. 2015 Mar; 47(3):272-5.
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
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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.
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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: 0.033
-
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.
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Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
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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.
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Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
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Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). Nucleic Acids Res. 2015 Jan; 43(Database issue):D737-42.
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Whole genome sequencing of SIV-infected macaques identifies candidate loci that may contribute to host control of virus replication. Genome Biol. 2014 Nov 07; 15(11):478.
Score: 0.032
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Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 Dec; 46(12):1267-73.
Score: 0.032
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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014; 9(10):e110740.
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.032
-
Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014 Dec 15; 20(24):6582-92.
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Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. PLoS One. 2014; 9(10):e109155.
Score: 0.032
-
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.032
-
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 Nov; 24(11):1740-50.
Score: 0.032
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Gibbon genome and the fast karyotype evolution of small apes. Nature. 2014 Sep 11; 513(7517):195-201.
Score: 0.032
-
The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330.
Score: 0.032
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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: 0.032
-
Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 05; 111(31):11473-8.
Score: 0.032
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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: 0.032
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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.
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Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
Score: 0.032
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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: 0.032
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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.
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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: 0.032
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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: 0.032
-
The sheep genome illuminates biology of the rumen and lipid metabolism. Science. 2014 Jun 06; 344(6188):1168-1173.
Score: 0.032
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
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Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 Jul 10; 511(7508):241-5.
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
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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.
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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.
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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: 0.032
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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.
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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: 0.032
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014 Apr 24; 508(7497):494-9.
Score: 0.031
-
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.031
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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54.
Score: 0.031
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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 Jul; 24(7):1193-208.
Score: 0.031
-
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: 0.031
-
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35. Stand Genomic Sci. 2014 Jun 15; 9(3):744-54.
Score: 0.031
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Finding the missing honey bee genes: lessons learned from a genome upgrade. BMC Genomics. 2014 Jan 30; 15:86.
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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
Score: 0.031
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.031
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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 Sep; 22(9):1145-8.
Score: 0.031
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):757-62.
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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.
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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.
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
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Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct 04; 342(6154):1235587.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
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Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 Aug; 45(8):899-901.
Score: 0.029
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Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 Jul; 45(7):767-75.
Score: 0.029
-
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013 Jul; 3(7):770-81.
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Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A. Genome Announc. 2013 Apr 11; 1(2):e0010613.
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013; 5(2):11.
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
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MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 Jan; 229(1):99-110.
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Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 Jun; 60(6):E1-3.
Score: 0.029
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 Nov 15; 491(7424):399-405.
Score: 0.028
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Deep sequencing of systematic combinatorial libraries reveals ?-lactamase sequence constraints at high resolution. J Mol Biol. 2012 Dec 07; 424(3-4):150-67.
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461.
Score: 0.028
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Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A. 2012 Sep 25; 109(39):15553-9.
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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 Sep; 18(9):1423-8.
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Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes. BMC Microbiol. 2012 Jul 07; 12:135.
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
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Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 Feb 22; 483(7387):82-6.
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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.
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Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. PLoS Negl Trop Dis. 2012 Jan; 6(1):e1471.
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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: 0.026
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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: 0.026
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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: 0.026
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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: 0.026
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Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 Aug 26; 333(6046):1154-7.
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Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay. PLoS One. 2011; 6(5):e20415.
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
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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: 0.025
-
Comparative and demographic analysis of orang-utan genomes. Nature. 2011 Jan 27; 469(7331):529-33.
Score: 0.025
-
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96.
Score: 0.025
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun. 2010 Nov 30; 1:131.
Score: 0.025
-
Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010; 11(11):R113.
Score: 0.025
-
Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential. PLoS One. 2010 Aug 26; 5(8):e12411.
Score: 0.024
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Complete Khoisan and Bantu genomes from southern Africa. Nature. 2010 Feb 18; 463(7283):943-7.
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A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I). J Bacteriol. 2009 Nov; 191(21):6643-53.
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Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma. HPB (Oxford). 2009 Aug; 11(5):435-44.
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 Jun; 41(6):739-45.
Score: 0.022
-
A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res. 2009 Feb; 19(2):167-77.
Score: 0.022
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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: 0.021
-
Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.021
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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: 0.021
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Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF. Genome Biol. 2008; 9(7):R110.
Score: 0.021
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.021
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The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse. J Bacteriol. 2008 Apr; 190(7):2597-606.
Score: 0.020
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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 Jun; 17(6):760-74.
Score: 0.019
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.018
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.017
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Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res. 2005 Jan; 15(1):1-18.
Score: 0.016
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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: 0.016
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Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol. 2004 Sep; 186(17):5842-55.
Score: 0.016
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Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol. 2002; 3(12):RESEARCH0079.
Score: 0.014
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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: 0.014