Nature Search

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

Olivier Delattre
Jessica Zucman
Gilles Thomas
Research10 Sept 1992
Nature

Volume: 359, P: 162-165
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Migraine headaches are a debilitating condition that affect many individuals. Now, Guy Rouleau and his colleagues link loss-of-function mutations in a potassium channel protein with a particular migraine syndrome in humans.

Ronald G Lafrenière
M Zameel Cader
Guy A Rouleau
Research26 Sept 2010
Nature Medicine

Volume: 16, P: 1157-1160
FungAMR: a comprehensive database for investigating fungal mutations associated with antimicrobial resistance

An online, manually curated and continually updating database of fungal antimicrobial resistance mutations provides a starting point for further research in fungal AMR.

Camille Bédard
Alicia Pageau
Christian R. Landry
Research11 Aug 2025
Nature Microbiology

Volume: 10, P: 2338-2352
Genomics yields biological and phenotypic insights into bipolar disorder

Using multi-ancestry genome-wide association study and fine-mapping, 298 loci and 36 credible genes are identified in the aetiology of bipolar disorder.

Kevin S. O’Connell
Maria Koromina
Dan Siskind
Research22 Jan 2025
Nature

Volume: 639, P: 968-975
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
Amendments and CorrectionsOpen Access08 Sept 2025
Nature Communications

Volume: 16, P: 1-2
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
ResearchOpen Access07 Sept 2016
Nature Communications

Volume: 7, P: 1-22
Increased exonic de novo mutation rate in individuals with schizophrenia

Guy Rouleau, Marie-Odile Krebs and colleagues sequenced the exomes of 14 individuals with schizophrenia and their unaffected parents. Their findings support a role for de novo mutations in the etiology of schizophrenia and provide a list of genes that may contribute to disease pathogenesis.

Simon L Girard
Julie Gauthier
Guy A Rouleau
Research10 Jul 2011
Nature Genetics

Volume: 43, P: 860-863
Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine
Guilherme Munhoz Essenfelder
Gilles Waksman
Research01 Oct 2000
Nature Genetics

Volume: 26, P: 142-144
Genomic landscape of estrogen receptor-positive HER2-negative advanced breast cancer with acquired resistance to aromatase inhibitors: Identification of an ESR1 alteration-related gene signature

Solenn Barraud
Sophie Vacher
Ivan Bièche
Research12 Jun 2025
British Journal of Cancer

Volume: 133, P: 464-472
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

REM-sleep behavior disorder often precedes Parkinson’s disease or dementia. Here, the authors perform a genome-wide association study for REM-sleep behavior disorder, and discover how it potentially affects gene expression in the brain.

Lynne Krohn
Karl Heilbron
Ziv Gan-Or
ResearchOpen Access05 Dec 2022
Nature Communications

Volume: 13, P: 1-16
Genomics to select treatment for patients with metastatic breast cancer

Targeted therapies matched to genomics improved progression-free survival when genomic alterations were classified as level I/II (according to ESCAT), and genomics should thus be driven by target actionability in patients with metastatic breast cancer.

Fabrice Andre
Thomas Filleron
Ivan Bieche
Research07 Sept 2022
Nature

Volume: 610, P: 343-348
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

Patricia Marino
Rajae Touzani
Dominique Vaur
Research24 Jan 2018
European Journal of Human Genetics

Volume: 26, P: 314-323
Functional analysis of missense variants in the TRESK (KCNK18) K⁺ channel

Isabelle Andres-Enguix
Lijun Shang
Stephen J. Tucker
ResearchOpen Access27 Jan 2012
Scientific Reports

Volume: 2, P: 1-7
Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto
Fabienne Lesueur
Brigitte Bressac-de Paillerets
Amendments and Corrections02 Dec 2015
Nature

Volume: 531, P: 126
Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

Patricia Marino
Rajae Touzani
Dominique Vaur
Amendments and Corrections15 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1396-1397
p4EBP1 staining predicts outcome in ER-positive endocrine-resistant metastatic breast cancer patients treated with everolimus and exemestane

Hélène Vanacker
Isabelle Treilleux
Thomas Bachelot
Research05 Jan 2024
British Journal of Cancer

Volume: 130, P: 613-619
Tumor fraction-based prognostic tool for cancer patients referred to early phase clinical trials

Arnaud Bayle
Laila Belcaid
Antoine Italiano
ResearchOpen Access07 Oct 2024
npj Precision Oncology

Volume: 8, P: 1-5
Metastatic renal cell carcinoma with occult primary: a multicenter prospective cohort

Nicolas Jacquin
Ronan Flippot
Sarah Watson
ResearchOpen Access18 Jul 2024
npj Precision Oncology

Volume: 8, P: 1-6
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto
Fabienne Lesueur
Brigitte Bressac-de Paillerets
Research19 Oct 2011
Nature

Volume: 480, P: 94-98
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Julie Gauthier
Bouchra Ouled Amar Bencheikh
Jean- François Soucy
Research19 Nov 2014
European Journal of Human Genetics

Volume: 23, P: 1266-1268
Subcortical structural connectivity of insular subregions

Jimmy Ghaziri
Alan Tucholka
Dang Khoa Nguyen
ResearchOpen Access05 Jun 2018
Scientific Reports

Volume: 8, P: 1-12
Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis

Qin He
Célia Jantac Mam-Lam-Fook
Boris Chaumette
ResearchOpen Access09 Oct 2021
Translational Psychiatry

Volume: 11, P: 1-9

Search

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

FungAMR: a comprehensive database for investigating fungal mutations associated with antimicrobial resistance

Genomics yields biological and phenotypic insights into bipolar disorder

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Increased exonic de novo mutation rate in individuals with schizophrenia

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Genomic landscape of estrogen receptor-positive HER2-negative advanced breast cancer with acquired resistance to aromatase inhibitors: Identification of an ESR1 alteration-related gene signature

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Genomics to select treatment for patients with metastatic breast cancer

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

Functional analysis of missense variants in the TRESK (KCNK18) K⁺ channel

Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

p4EBP1 staining predicts outcome in ER-positive endocrine-resistant metastatic breast cancer patients treated with everolimus and exemestane

Tumor fraction-based prognostic tool for cancer patients referred to early phase clinical trials

Metastatic renal cell carcinoma with occult primary: a multicenter prospective cohort

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Subcortical structural connectivity of insular subregions

Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis

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