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Estelle Colin
Estelle Colin
Service de Génétique médicale, CHU Angers
Dirección de correo verificada de chu-angers.fr
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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
G Richard, F Rouan, CE Willoughby, N Brown, P Chung, M Ryynänen, ...
The American Journal of Human Genetics 70 (5), 1341-1348, 2002
4462002
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
2902014
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ...
Nature genetics 43 (6), 601-606, 2011
2522011
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1862019
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome
E Colin, EH Cong, G Mollet, A Guichet, O Gribouval, C Arrondel, O Boyer, ...
The American Journal of Human Genetics 95 (6), 637-648, 2014
1362014
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio‐oto‐renal syndrome calls into question the pathogenic role of SIX5 mutations
P Krug, V Morinière, S Marlin, V Koubi, HD Gabriel, E Colin, D Bonneau, ...
Human mutation 32 (2), 183-190, 2011
1272011
Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy
E Colin, J Daniel, A Ziegler, J Wakim, A Scrivo, TB Haack, S Khiati, ...
The American Journal of Human Genetics 99 (3), 695-703, 2016
952016
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
C Miot, K Imai, C Imai, AJ Mancini, ZY Kucuk, T Kawai, R Nishikomori, ...
Blood, The Journal of the American Society of Hematology 130 (12), 1456-1467, 2017
892017
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
L Mansour‐Hendili, A Blanchard, N Le Pottier, I Roncelin, S Lourdel, ...
Human mutation 36 (8), 743-752, 2015
892015
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
J Plaisancié, I Bailleul‐Forestier, V Gaston, F Vaysse, D Lacombe, ...
American Journal of Medical Genetics Part A 161 (4), 671-678, 2013
852013
De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder
D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ...
The American Journal of Human Genetics 101 (5), 716-724, 2017
832017
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
D Bonneau, E Colin, F Oca, M Ferré, A Chevrollier, N Guéguen, ...
Brain 137 (10), e301-e301, 2014
802014
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
M Legendre, V Abadie, T Attié‐Bitach, N Philip, T Busa, D Bonneau, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
792017
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
A Abidi, JJ Devaux, F Molinari, G Alcaraz, FX Michon, J Sutera-Sardo, ...
Neurobiology of disease 80, 80-92, 2015
732015
Variable clinical expression in patients with mosaicism for KCNQ2 mutations
M Milh, C Lacoste, P Cacciagli, A Abidi, J Sutera‐Sardo, I Tzelepis, ...
American Journal of Medical Genetics Part A 167 (10), 2314-2318, 2015
632015
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
K Weiss, HP Lazar, A Kurolap, AF Martinez, T Paperna, L Cohen, ...
Genetics in Medicine 22 (2), 389-397, 2020
592020
Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation sequencing
C Bris, D Goudenege, V Desquiret-Dumas, M Charif, E Colin, D Bonneau, ...
Frontiers in genetics 9, 632, 2018
572018
De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
B Isidor, S Küry, JA Rosenfeld, T Besnard, S Schmitt, S Joss, SJ Davies, ...
Human Mutation 37 (4), 354-358, 2016
512016
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
D Goudenège, C Bris, V Hoffmann, V Desquiret-Dumas, C Jardel, ...
Genetics in Medicine 21 (6), 1407-1416, 2019
502019
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism
F Morice-Picard, E Lasseaux, S François, D Simon, C Rooryck, E Bieth, ...
The Journal of investigative dermatology 134 (2), 568, 2014
502014
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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