List of works - Sébastien Küry

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

scientific article

A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica

article

Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15.

scientific article

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels

scientific article published on 17 March 2015

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

scientific article published on 6 September 2011

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

scientific article published on January 2014

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

scientific article

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study

scientific article published on October 2011

Clinical utility gene card for: biotinidase deficiency

scientific article published on 29 February 2012

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

scientific article published on 19 September 2018

Clinical utility gene card for: Biotinidase deficiency-update 2015.

scientific article

Clinical utility gene card for: acrodermatitis enteropathica

scientific article published on 14 December 2011

Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog.

scientific article published on 15 October 2010

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

scientific article

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant

scientific article published on 15 July 2011

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

scientific article

A dominant vimentin variant causes a rare syndrome with premature aging

scientific article published on 17 February 2020

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

scientific article

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

scientific article published on 01 April 2017

Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica

scientific article

Clinical zinc deficiency as early presentation of Wilson disease

scientific article published in April 2015

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

scientific article

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

scientific article published in January 2018

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

scientific article published on 16 November 2017

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

scientific article published on 23 July 2020

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Reappraisal of the so-called 'villous tumours' of the rectosigmoid, based on histological, immunohistochemical and genotypic features

scientific article

Bases moléculaires de l’acrodermatite entéropathique

scientific article published on 01 December 2004

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

scientific article published on 2 October 2023

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

scientific article published on 16 January 2024

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

scientific article published on 12 January 2021

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

scientific article published on 07 October 2015

Missense variant contribution to USP9X-female syndrome

scientific article published on 09 December 2020

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

scientific article published on 31 May 2023

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

List of works by Sébastien Küry

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica

Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15.

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study

Clinical utility gene card for: biotinidase deficiency

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Clinical utility gene card for: acrodermatitis enteropathica

Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog.

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

A dominant vimentin variant causes a rare syndrome with premature aging

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

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

Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica

Clinical zinc deficiency as early presentation of Wilson disease

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

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

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Reappraisal of the so-called 'villous tumours' of the rectosigmoid, based on histological, immunohistochemical and genotypic features

Bases moléculaires de l’acrodermatite entéropathique

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Missense variant contribution to USP9X-female syndrome

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability