DONNA MUZNY to Female
This is a "connection" page, showing publications DONNA MUZNY has written about Female.
Connection Strength
0.963
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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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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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Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.
Score: 0.008
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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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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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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 09; 4(9).
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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Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment. Cancer Cell. 2021 01 11; 39(1):38-53.e7.
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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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 10 14; 11(1):5182.
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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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: 0.007
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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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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). 2020 07 25; 11(8).
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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Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 07; 583(7814):83-89.
Score: 0.007
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Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability. Genome Res. 2020 06; 30(6):826-834.
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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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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Genetics of schizophrenia in the South African Xhosa. Science. 2020 01 31; 367(6477):569-573.
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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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726.
Score: 0.006
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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: 0.006
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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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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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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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Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. Comp Med. 2018 12 01; 68(6):489-495.
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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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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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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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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Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 04; 93(4):919-924.
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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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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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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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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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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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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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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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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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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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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Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse. Cancer Res. 2016 04 15; 76(8):2197-205.
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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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 07; 98(1):202-9.
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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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 05; 97(5):647-60.
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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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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Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. Nat Commun. 2015 Mar 19; 6:6604.
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
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.005
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 Feb; 20(2):176-82.
Score: 0.005
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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.
Score: 0.005
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.005
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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.
Score: 0.005
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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
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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: 0.005
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Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.005
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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
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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.
Score: 0.005
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.005
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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.
Score: 0.005
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BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86.
Score: 0.005
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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: 0.005
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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: 0.005
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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.
Score: 0.005
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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: 0.005
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Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
Score: 0.005
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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.
Score: 0.005
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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: 0.004
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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: 0.004
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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.
Score: 0.004
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Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 Jul 10; 511(7508):241-5.
Score: 0.004
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.004
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Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):335-43.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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: 0.004
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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.
Score: 0.004
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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: 0.004
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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: 0.004
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014 Apr 24; 508(7497):494-9.
Score: 0.004
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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
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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: 0.004
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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 2014 Mar 27; 9:43.
Score: 0.004
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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
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.004
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.004
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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.
Score: 0.004
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.004
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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
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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: 0.004
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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.
Score: 0.004
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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: 0.004
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CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 Jun; 18(6):700-7.
Score: 0.004
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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: 0.004
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Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 Feb; 18(2):138-40.
Score: 0.004
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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.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3.
Score: 0.004
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High incidence of IDH mutations in acute myeloid leukaemia with cuplike nuclei. Br J Haematol. 2011 Oct; 155(1):125-8.
Score: 0.004
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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: 0.004
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Comparative and demographic analysis of orang-utan genomes. Nature. 2011 Jan 27; 469(7331):529-33.
Score: 0.004
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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
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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: 0.003
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Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 Jan 15; 327(5963):343-8.
Score: 0.003
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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: 0.003
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Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology. 2009 Jul; 50(1):275-81.
Score: 0.003
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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May; 84(5):617-27.
Score: 0.003
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The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science. 2009 Apr 24; 324(5926):522-8.
Score: 0.003
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Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science. 2009 Apr 24; 324(5926):528-32.
Score: 0.003
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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: 0.003
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.003
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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: 0.003
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A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61.
Score: 0.003
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Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 Apr 13; 316(5822):222-34.
Score: 0.003
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
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Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991 May 23; 351(6324):325-9.
Score: 0.001
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Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. Proc Natl Acad Sci U S A. 1989 Aug; 86(15):5888-92.
Score: 0.001