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C. Redin · SciRah

Researcher profile · Semantic Scholar

C. Redin

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C. Redin — researcher profile on SciRah

h-index: 22
Works: 41
Citations: 3,297

Most-cited papers

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans
Daniel K. Bricker, Eric B. Taylor, John C. Schell, Thomas Orsak +12 more
2012Science837 citations Open access
Semantic Scholar
The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies
C. Redin, H. Brand, Ryan L. Collins, T. Kammin +145 more
2016Nature Genetics290 citations Open access
Semantic Scholar
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C. Redin, B. Gerard, Julia Lauer, Y. Hérenger +43 more
2014Journal of Medical Genetics265 citations Open access
Semantic Scholar
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
A. Piton, C. Redin, J. Mandel
2013American Journal of Human Genetics265 citations Open access
Semantic Scholar
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
J. Casanova, Helen C. Su, L. Abel, A. Aiuti +60 more
2020Cell198 citations Open access
Semantic Scholar
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L. Collins, H. Brand, C. Redin, C. Hanscom +26 more
2017Genome Biology186 citations Open access
Semantic Scholar
DPY19L2 deletion as a major cause of globozoospermia.
I. Koscinski, E. Elinati, C. Fossard, C. Redin +8 more
2011American Journal of Human Genetics184 citations Open access
Semantic Scholar
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
C. Redin, S. Le Gras, O. M'hamdi, Véronique Geoffroy +13 more
2012Journal of Medical Genetics128 citations Open access
Semantic Scholar
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.
E. Elinati, P. Kuentz, C. Redin, Sara Jaber +26 more
2012Human Molecular Genetics96 citations
Semantic Scholar
Distributed under Creative Commons Cc-by 4.0 Varank: a Simple and Powerful Tool for Ranking Genetic Variants
J. Muller, Véronique Geoffroy, C. Pizot, C. Redin +5 more
84 citations
Semantic Scholar
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
A. Piton, Hélène Poquet, C. Redin, A. Masurel +17 more
2013European Journal of Human Genetics80 citations Open access
Semantic Scholar
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.
A. Quartier, Laure Chatrousse, C. Redin, C. Keime +7 more
2018Biological Psychiatry76 citations
Semantic Scholar
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Lucas M. Bronicki, C. Redin, S. Drunat, A. Piton +17 more
2015European Journal of Human Genetics73 citations Open access
Semantic Scholar
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
E. Schaefer, C. Stoetzel, Sophie Scheidecker, Véronique Geoffroy +7 more
2016Journal of Human Genetics69 citations
Semantic Scholar
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Z. Ordulu, T. Kammin, H. Brand, V. Pillalamarri +24 more
2016American Journal of Human Genetics62 citations Open access
Semantic Scholar
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
A. Quartier, Hélène Poquet, B. Gilbert-Dussardier, M. Rossi +27 more
2017European Journal of Human Genetics58 citations Open access
Semantic Scholar
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
M. Mallaret, M. Renaud, C. Redin, N. Drouot +21 more
2016Journal of Neurology58 citations
Semantic Scholar
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
M. Renaud, M. Anheim, E. Kamsteeg, M. Mallaret +13 more
2014JAMA Neurology58 citations
Semantic Scholar
Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations
Ernst J. Schaefer, Julia Lauer, M. Durand, V. Pelletier +11 more
2014Clinical Genetics39 citations
Semantic Scholar
Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
O. M'hamdi, C. Redin, C. Stoetzel, I. Ouertani +7 more
2014Clinical Genetics33 citations
Semantic Scholar
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Kiana Mohajeri, Rachita Yadav, E. D'Haene, Philip M. Boone +19 more
2022bioRxiv29 citations Open access
Semantic Scholar
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
L. Mary, A. Piton, E. Schaefer, F. Mattioli +21 more
2018European Journal of Human Genetics26 citations Open access
Semantic Scholar
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
A. Masurel‐Paulet, A. Piton, Sophie Chancenotte, C. Redin +18 more
2016American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Host genomics of SARS-CoV-2 infection
C. Redin, C. Thorball, J. Fellay
2022European Journal of Human Genetics18 citations Open access
Semantic Scholar
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
A. Schlüter, A. Rodríguez-Palmero, E. Verdura, V. Vélez-Santamaría +29 more
2022Neurology17 citations Open access
Semantic Scholar
Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study.
R. de la Harpe, C. W. Thorball, C. Redin, S. Fournier +7 more
2023European Journal of Preventive Cardiology14 citations Open access
Semantic Scholar
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
Cinthya J. Zepeda-Mendoza, Alexandra Bardon, T. Kammin, D. Harris +5 more
2018European Journal of Human Genetics9 citations Open access
Semantic Scholar
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia
K. Lohmann, C. Redin, H. Tönnies, S. Bressman +12 more
2017JAMA Neurology9 citations Open access
Semantic Scholar
Herzig Pyruvate Carrier Identification and Functional Expression of the Mitochondrial
Daniel K. Bricker, Eric B. Taylor, John C. Schell, Thomas Orsak +8 more
20125 citations
Semantic Scholar
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
C. Redin, D. Pavlidou, Z. Bhuiyan, A. Porretta +10 more
2022European Journal of Medical Genetics3 citations Open access
Semantic Scholar
[Pharmacogenomics : a toolbox to improve drug prescription].
E. Jaccard, C. Redin, F. Girardin, G. Waeber +2 more
2020Revue medicale suisse3 citations
Semantic Scholar
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
I. Parenti, Alina Hesters, Marta Gil-Salvador, L. Duffy +52 more
2026Nature Communications2 citations Open access
Semantic Scholar
Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes
Ruth B. McCole, W. Saylor, C. Redin, C. Fonseka +4 more
2017bioRxiv2 citations Open access
Semantic Scholar
SESSION 70: GENETICS: WHAT GENOMES GONE WRONG CAN TELL US
E. Elinati, P. Kuentz, C. Redin, F. V. Meerschaut +51 more
20122 citations
Semantic Scholar
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
I. Parenti, Alina Hesters, Marta Gil-Salvador, L. Duffy +52 more
2025medRxiv1 citations
Semantic Scholar
A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease
E. Porcu, C. Thorball, A. P. Porretta, Etienne Pruvot +8 more
2022medRxiv1 citations Open access
Semantic Scholar
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
Cinthya J. Zepeda-Mendoza, Alexandra Bardon, T. Kammin, D. Harris +5 more
2018European Journal of Human Genetics1 citations Open access
Semantic Scholar
[Precision medicine : at the crossroad of molecular biology, information sciences and humanities].
Romain-Daniel Gosselin, C. Redin, Élodie Ristorcelli, J. Raisaro +1 more
2020Revue medicale suisse0 citations
Semantic Scholar
[Precision medicine : at the crossroad of molecular biology, information sciences and humanities].
Romain-Daniel Gosselin, C. Redin, Élodie Ristorcelli, J. Raisaro +1 more
20200 citations
Semantic Scholar
Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies
C. Redin, H. Brand, Ryan L. Collins, C. Hanscom +38 more
20160 citations
Semantic Scholar
NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders
C. Redin
20140 citations
Semantic Scholar

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