|A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans|
DK Bricker, EB Taylor, JC Schell, T Orsak, A Boutron, YC Chen, JE Cox, ...
Science 337 (6090), 96-100, 2012
|XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing|
A Piton, C Redin, JL Mandel
The American Journal of Human Genetics 93 (2), 368-383, 2013
|Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing|
C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ...
Journal of medical genetics 51 (11), 724-736, 2014
|The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies|
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
|DPY19L2 deletion as a major cause of globozoospermia|
I Koscinski, E ElInati, C Fossard, C Redin, J Muller, JV de la Calle, ...
The American Journal of Human Genetics 88 (3), 344-350, 2011
|Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome|
RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ...
Genome biology 18 (1), 1-21, 2017
|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 Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, ...
Journal of medical genetics 49 (8), 502-512, 2012
|Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly|
E Schaefer, A Zaloszyc, J Lauer, M Durand, F Stutzmann, ...
Molecular syndromology 1 (6), 273-281, 2010
|Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots|
E ElInati, P Kuentz, C Redin, S Jaber, F Vanden Meerschaut, J Makarian, ...
Human molecular genetics 21 (16), 3695-3702, 2012
|A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection|
JL Casanova, HC Su, L Abel, A Aiuti, S Almuhsen, AA Arias, P Bastard, ...
Cell 181 (6), 1194-1199, 2020
|VaRank: a simple and powerful tool for ranking genetic variants|
V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, ...
PeerJ 3, e796, 2015
|Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome|
E Schaefer, C Stoetzel, S Scheidecker, V Geoffroy, MK Prasad, C Redin, ...
Journal of human genetics 61 (5), 447-450, 2016
|Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A|
LM Bronicki, C Redin, S Drunat, A Piton, M Lyons, S Passemard, ...
European Journal of Human Genetics 23 (11), 1482-1487, 2015
|Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis|
Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ...
The American Journal of Human Genetics 99 (5), 1015-1033, 2016
|Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study|
M Renaud, M Anheim, EJ Kamsteeg, M Mallaret, F Mochel, S Vermeer, ...
JAMA neurology 71 (10), 1305-1310, 2014
|20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition|
A Piton, H Poquet, C Redin, A Masurel, J Lauer, J Muller, J Thevenon, ...
European Journal of Human Genetics 22 (6), 776-783, 2014
|Genes and pathways regulated by androgens in human neural cells, potential candidates for the male excess in autism spectrum disorder|
A Quartier, L Chatrousse, C Redin, C Keime, N Haumesser, ...
Biological Psychiatry 84 (4), 239-252, 2018
|Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations|
E Schaefer, J Lauer, M Durand, V Pelletier, C Obringer, A Claussmann, ...
Clinical genetics 85 (5), 476-481, 2014
|Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome|
A Quartier, H Poquet, B Gilbert-Dussardier, M Rossi, AS Casteleyn, ...
European Journal of Human Genetics 25 (4), 423-431, 2017
|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, M Chaabouni, F Maazoul, ...
Clinical Genetics 85 (2), 172-177, 2014