C. Redin

发表

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Ryan L. Collins, D. Warburton, J. Gusella, 2016, American journal of human genetics.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Claire Redin, Jean-Louis Mandel, J. Mandel, 2013, American journal of human genetics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

N. Iqbal, M. Nasr-Esfahani, B. Heindryckx, 2012, Human molecular genetics.

Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

H. Brand, M. Talkowski, R. McCole, 2017, bioRxiv.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease

Z. Kutalik, C. Redin, O. Muller, 2022, medRxiv.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

J. Mandel, D. Lacombe, C. Redin, 2016, Journal of Human Genetics.

Host genomics of SARS-CoV-2 infection

J. Fellay, C. Redin, C. Thorball, 2022, European Journal of Human Genetics.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

N. Drouot, A. Durr, M. Koenig, 2014, JAMA neurology.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

R. Siebert, K. Lohmann, M. Talkowski, 2017, JAMA neurology.

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.

J. Fellay, C. Redin, A. Superti-Furga, 2022, European journal of medical genetics.

DPY19L2 deletion as a major cause of globozoospermia.

C. Redin, S. Viville, P. Ray, 2011, American journal of human genetics.

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

C. Redin, H. Dollfus, C. Stoetzel, 2014, Clinical genetics.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

C. Morton, M. Talkowski, D. Harris, 2018, European Journal of Human Genetics.

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

J. Mandel, S. Gras, C. Redin, 2018, Biological Psychiatry.

Distributed under Creative Commons Cc-by 4.0 Varank: a Simple and Powerful Tool for Ranking Genetic Variants

Véronique Geoffroy, Cécile Pizot, Claire Redin, 2022 .

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joseph T. Glessner, Stephan J Sanders, 2017, Genome Biology.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

R. Stevenson, M. Lyons, J. Mandel, 2015, European Journal of Human Genetics.

NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders

C. Redin, 2014 .

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans

Claire Redin, Steven P. Gygi, Jared Rutter, 2012, Science.

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

Jacques Fellay, Aurora Pujol, Claire Redin, 2020, Cell.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

N. Katsanis, A. Toutain, C. Redin, 2011, Molecular Syndromology.

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

M. Gut, L. Pérez-Jurado, S. Beltran, 2022, Neurology.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study.

J. Fellay, P. Vollenweider, C. Redin, 2023, European journal of preventive cardiology.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans

S. Gygi, C. Thummel, J. Rutter, 2012, Science.