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D

David Germanaud

assistance publique hopitaux paris (aphp)
H指数:17
被引数:1,212

个人简介

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荣誉奖项

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-06-013
PRE
Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cave, Helene; Digilio, Maria Cristina; Tartaglia, Marco
Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications
MOLECULAR AUTISM
IF5.5
2023-11-273
OAAI
Lefebvre, Aline; Traut, Nicolas; Pedoux, Amandine; Maruani, Anna; Beggiato, Anita; Elmaleh, Monique; Germanaud, David; Amestoy, Anouck; Ly-Le Moal, Myriam; Chatham, Christopher; Murtagh, Lorraine; Bouvard, Manuel; Alisson, Marianne; Leboyer, Marion; Bourgeron, Thomas; Toro, Roberto; Dumas, Guillaume; Moreau, Clara; Delorme, Richard
Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways
AUTISM RESEARCH
IF5.6
2022-12-046
PRE
Lefebvre, Aline; Tillmann, Julian; Cliquet, Freddy; Amsellem, Frederique; Maruani, Anna; Leblond, Claire; Beggiato, Anita; Germanaud, David; Amestoy, Anouck; Ly-Le Moal, Myriam; Umbricht, Daniel; Chatham, Christopher; Murtagh, Lorraine; Bouvard, Manuel; Leboyer, Marion; Charman, Tony; Bourgeron, Thomas; Delorme, Richard; Dumas, Guillaume
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
HUMAN MUTATION
IF3.7
2021-03-0121
OAAI
Franken, Gijs A. C.; Mueller, Dominik; Mignot, Cyril; Keren, Boris; Levy, Jonathan; Tabet, Anne-Claude; Germanaud, David; Tejada, Maria-Isabel; Kroes, Hester Y.; Nievelstein, Rutger A. J.; Brimble, Elise; Ruzhnikov, Maria; Claverie-Martin, Felix; Szczepanska, Maria; Cuk, Martin; Latta, Femke; Konrad, Martin; Martinez-Cruz, Luis A.; Bindels, Rene J. M.; Hoenderop, Joost G. J.; Schlingmann, Karl-Peter; de Baaij, Jeroen H. F.

研究方向

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R
Richard Delorme
H 指数:68论文数:533被引数:2.7万
M
Monique Elmaleh
H 指数:36论文数:227被引数:4,387
L
Lucie Hertz‐Pannier
H 指数:46论文数:239被引数:1.0万
A
Anita Beggiato
H 指数:13论文数:45被引数:1,869
J
Justine Fraize
H 指数:4论文数:9被引数:36
E
Eliot Kerdreux
H 指数:4论文数:6被引数:36
T
Thomas Bourgeron
H 指数:83论文数:818被引数:3.1万
O
Odile Boespflug‐Tanguy
H 指数:56论文数:354被引数:1.0万
G
Guillaume Dumas
H 指数:56论文数:654被引数:1.2万
R
Roberto Toro
H 指数:57论文数:267被引数:2.1万