List of works - Sébastien Küry

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

scientific article published on 8 July 2007

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

scientific article published on 22 December 2012

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

scientific article (publication date: July 2002)

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Meta-analysis of new genome-wide association studies of colorectal cancer risk

scientific article published on 15 July 2011

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

scientific article

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

scientific article

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane

scientific article

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

scientific article published on 07 July 2015

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

scientific article published on June 2009

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

scientific article

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

scientific article published in July 2007

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

scientific article

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

scientific article published on 07 March 2016

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

Mendelian randomization study of height and risk of colorectal cancer

scientific article published on April 2015

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Genome-wide search for gene-gene interactions in colorectal cancer

scientific article

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

scientific article

Telomere structure and maintenance gene variants and risk of five cancer types

scientific article published on 15 December 2016

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

scientific article published on 27 August 2013

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

scientific article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

scientific article published on 21 March 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

scientific article

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

scientific article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

scientific article

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

scientific article

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

scientific article published on 18 January 2012

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

scientific article published in January 2007

Acrodermatitis enteropathica: a review of 29 Tunisian cases

scientific article published on September 2010

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

scientific article

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

scientific article published on 17 August 2016

Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4

scientific article

Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.

scientific article published on 17 July 2017

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci

scientific article published on 26 October 2015

Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.

scientific article

BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated

scientific article published on October 2010

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

scientific article published on 26 October 2016

Risk factors for hepatocellular carcinoma in Caucasian patients with non-viral cirrhosis: the importance of prior obesity.

scientific article published on 21 January 2015

List of works by Sébastien Küry

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Rare and low-frequency coding variants alter human adult height

Meta-analysis of new genome-wide association studies of colorectal cancer risk

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

Lessons learned from additional research analyses of unsolved clinical exome cases

A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

Discovery of common and rare genetic risk variants for colorectal cancer

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Mendelian randomization study of height and risk of colorectal cancer

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Genome-wide search for gene-gene interactions in colorectal cancer

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

Telomere structure and maintenance gene variants and risk of five cancer types

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

Acrodermatitis enteropathica: a review of 29 Tunisian cases

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4

Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci

Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.

BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Risk factors for hepatocellular carcinoma in Caucasian patients with non-viral cirrhosis: the importance of prior obesity.