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D

David Baux

universite paris-est-creteil-val-de-marne (upec)
H指数:23
被引数:1,753

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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
BRAIN
IF11.7
2024-06-170
PRE
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
HUMAN GENOMICS
IF4.3
2023-02-1072
OAAI
Agathe, Jean-Madeleine de Sainte; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurelien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossee, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Elodie; Le Guern, Eric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Francoise; Cogne, Benjamin; Baux, David
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

RFC1废话和移码变体导致画布: 未解决的病理生理学的线索

BRAIN
IF11.7
2022-07-2726
OA
Benkirane, Mehdi; Da Cunha, Dylan; Marelli, Cecilia; Larrieu, Lise; Renaud, Mathilde; Varilh, Jessica; Pointaux, Morgane; Baux, David; Ardouin, Olivier; Vangoethem, Charles; Taulan, Magali; Duport, Benjamin Daumas; Bergougnoux, Anne; Corbille, Anne Gaelle; Cossee, Mireille; Morales, Raul Juntas; Tuffery-Giraud, Sylvie; Koenig, Michel; Isidor, Bertrand; Vincent, Marie Claire
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
SCIENTIFIC REPORTS
IF3.9
2022-07-064
OAAI
Liautard-Haag, C.; Durif, G.; VanGoethem, C.; Baux, D.; Louis, A.; Cayrefourcq, L.; Lamairia, M.; Willems, M.; Zordan, C.; Dorian, V.; Rooryck, C.; Goizet, C.; Chaussenot, A.; Monteil, L.; Calvas, P.; Miry, C.; Favre, R.; Le Boette, E.; Fradin, M.; Roux, A. F.; Cossee, M.; Koenig, M.; Alix-Panabiere, C.; Guissart, C.; Vincent, M. C.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
GENETICS IN MEDICINE
IF6.2
2021-11-0118
OAAI
Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
BRAIN
IF11.7
2020-07-1338
OAAI
McNeill, Alisdair; Iovino, Emanuela; Mansard, Luke; Vache, Christel; Baux, David; Bedoukian, Emma; Cox, Helen; Dean, John; Goudie, David; Kumar, Ajith; Newbury-Ecob, Ruth; Fallerini, Chiara; Renieri, Alessandra; Lopergolo, Diego; Mari, Francesca; Blanchet, Catherine; Willems, Marjolaine; Roux, Anne-Francoise; Pippucci, Tommaso; Delpire, Eric
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2018-07-0115
OAAI
Yauy, Kevin; Baux, David; Pegeot, Henri; Van Goethem, Charles; Mathieu, Charly; Guignard, Thomas; Morales, Raul Juntas; Lacourt, Delphine; Krahn, Martin; Lehtokari, Vilma-Lotta; Bonne, Gisele; Tuffery-Giraud, Sylvie; Koenig, Michel; Cossee, Mireille

研究方向

暂未获取到该数据
A
Anne‐Françoise Roux
H 指数:38论文数:143被引数:6,036
C
Christel Vaché
H 指数:16论文数:38被引数:1,174
M
Mireille Claustres
H 指数:68论文数:332被引数:1.8万
M
M. Kœnig
H 指数:65论文数:679被引数:2.4万
A
Anne Bergougnoux
H 指数:19论文数:89被引数:1,404
L
Lise Larrieu
H 指数:18论文数:46被引数:1,087
V
Valérie Faugère
H 指数:15论文数:35被引数:816
C
Catherine Blanchet
H 指数:24论文数:157被引数:1,810
V
Vasiliki Kalatzis
H 指数:31论文数:134被引数:4,021
M
Mireille Cossée
H 指数:31论文数:150被引数:8,303