NATURE GENETICS

Journal

Identifier:

E116310

ISSN:

1061-4036

Overview

Outputs (63)

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

Academic Article

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.

Academic Article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Academic Article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Academic Article

A variant in the CD209 promoter is associated with severity of dengue disease

Academic Article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Academic Article

Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Academic Article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Academic Article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Academic Article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Academic Article

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)

Academic Article

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)

Academic Article

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

Academic Article

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.

Academic Article

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Academic Article

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Academic Article

Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Academic Article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Academic Article

CXorf6 is a causative gene for hypospadias.

Academic Article

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

Academic Article

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Academic Article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Academic Article

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Academic Article

Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank

Academic Article

Comprehensive molecular characterization of mitochondrial genomes in human cancers

Academic Article

Defining the role of common variation in the genomic and biological architecture of adult human height

Academic Article

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Academic Article

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Academic Article

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Academic Article

Genetic evidence for an exit of Homo sapiens sapiens from Africa via East Africa.

Academic Article

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Academic Article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Academic Article

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

Academic Article

Genome-wide meta-analyses identify multiple loci associated with smoking behavior

Academic Article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Academic Article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Academic Article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Academic Article

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

Academic Article

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.

Academic Article

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

Academic Article

Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosome

Academic Article

Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex

Academic Article

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.

Academic Article

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Academic Article

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Academic Article

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Academic Article

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Academic Article

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Academic Article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Academic Article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Academic Article

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Academic Article

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Academic Article

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Academic Article

New susceptibility locus for coronary artery disease on chromosome 3q22.3

Academic Article

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

Academic Article

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Academic Article

R-spondin1 is essential in sex determination, skin differentiation and malignancy

Academic Article

Recessive gene disruptions in autism spectrum disorder

Academic Article

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxine.

Academic Article

The landscape of viral associations in human cancers

Academic Article

Transcriptional regulator PRDM12 is essential for human pain perception

Academic Article

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.

Academic Article

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Academic Article

No Results Found

NATURE GENETICS

Overview

Outputs (63)