Follow
THAUVIN Christel
THAUVIN Christel
Unknown affiliation
Verified email at chu-dijon.fr
Title
Cited by
Cited by
Year
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
S Millecamps, F Salachas, C Cazeneuve, P Gordon, B Bricka, A Camuzat, ...
Journal of medical genetics 47 (8), 554-560, 2010
3452010
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
H Louis-Dit-Picard, J Barc, D Trujillano, S Miserey-Lenkei, N Bouatia-Naji, ...
Nature genetics 44 (4), 456-460, 2012
3322012
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
C Pottier, D Hannequin, S Coutant, A Rovelet-Lecrux, D Wallon, ...
Molecular psychiatry 17 (9), 875-879, 2012
2942012
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
2912014
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
J Thevenon, Y Duffourd, A Masurel‐Paulet, M Lefebvre, F Feillet, ...
Clinical Genetics 89 (6), 700-707, 2016
2552016
A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
P Latour, C Thauvin-Robinet, C Baudelet-Méry, P Soichot, V Cusin, ...
The American Journal of Human Genetics 86 (1), 77-82, 2010
2532010
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
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
G Nicolas, C Pottier, C Charbonnier, L Guyant-Maréchal, I Le Ber, ...
Brain 136 (11), 3395-3407, 2013
2202013
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, ...
The American Journal of Human Genetics 85 (4), 465-481, 2009
2152009
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
B Isidor, P Lindenbaum, O Pichon, S Bézieau, C Dina, S Jacquemont, ...
Nature genetics 43 (4), 306-308, 2011
2112011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ...
Journal of medical genetics 48 (12), 825-830, 2011
2092011
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ...
The American Journal of Human Genetics 106 (3), 356-370, 2020
2062020
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
C Thauvin-Robinet, M Auclair, L Duplomb, M Caron-Debarle, M Avila, ...
The American Journal of Human Genetics 93 (1), 141-149, 2013
1972013
Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
C Thauvin-Robinet, M Cossee, V Cormier-Daire, L Van Maldergem, ...
Journal of Medical Genetics 43 (1), 54-61, 2006
1732006
Multifocal Ectopic Purkinje-Related Premature Contractions: A New SCN5A-Related Cardiac Channelopathy
G Laurent, S Saal, MY Amarouch, DM Béziau, RFJ Marsman, L Faivre, ...
Journal of the American College of Cardiology 60 (2), 144-156, 2012
1712012
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ...
Genetics in Medicine 20 (6), 645-654, 2018
1642018
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
C Bellenguez, C Charbonnier, B Grenier-Boley, O Quenez, K Le Guennec, ...
Neurobiology of aging 59, 220. e1-220. e9, 2017
1612017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
R Carapito, M Konantz, C Paillard, Z Miao, A Pichot, MS Leduc, Y Yang, ...
The Journal of clinical investigation 127 (11), 4090-4103, 2017
1532017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 14279, 2017
1462017
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ...
Neuron 106 (3), 404-420. e8, 2020
1452020
The system can't perform the operation now. Try again later.
Articles 1–20