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S

Sedigheh Delmaghani

institut pasteur and ap-hp and inserm and cnrs and fondation pour l'audition and ihu reconnect and universite paris cite
H指数:14
被引数:2,228

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Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing (Adv. Sci. 20/2026)

Clarin-1和Clarin-2耳聋相关蛋白间的补偿性相互作用调控听力的表型可变性

Advanced Science
IF14.1
2026-04-100
OAAI
Maureen Wentling; Aïda Yakhlef Sanchez; Nicolas Thelen; Müge Senarisoy; Maria Hogg; Steven Condamine; Andrea Lelli; Emilia Wysocka; Pranav Patni; Sandrine Vitry; Kerem Yasin Yildizhan; Sébastien Le Gal; Sylvie Nouaille; Michael R. Bowl; Marc Thiry; Didier Dulon; Sedigheh Delmaghani; Aziz El-Amraoui
Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism

揭示Otogl突变小鼠听觉超兴奋性，阐明了听觉神经病变机制

ADVANCED SCIENCE
IF14.1
2025-02-180
OAAI
Gagliardini, M; Mechaussier, S; Pina, CC; Morais, M; Postal, O; Jean, P; Dupont, T; Singh-Estivalet, A; Udugampolage, S; Scandola, C; Verpy, E; Libé-Philippot, B; Inbar, TC; Schwenkgrub, J; Spinola, CMB; Etournay, R; El-Amraoui, A; Bathellier, B; Mallet, A; Delmaghani, S; Giraudet, F; Petit, C; Gourévitch, B; Avan, P; Michalski, N
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

导致早发性耳聋显性形式的基因的超早期杂合致病变异是严重的老年性耳聋的基础

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2020-11-2337
OAAI
Boucher, Sophie; Tai, Fabienne Wong Jun; Delmaghani, Sedigheh; Lelli, Andrea; Singh-Estivalet, Amrit; Dupont, Typhaine; Niasme-Grare, Magali; Michel, Vincent; Wolff, Nicolas; Bahloul, Amel; Bouyacoub, Yosra; Bouccara, Didier; Fraysse, Bernard; Deguine, Olivier; Collet, Lionel; Thai-Van, Hung; Ionescu, Eugen; Kemeny, Jean-Louis; Giraudet, Fabrice; Lavieille, Jean-Pierre; Deveze, Arnaud; Roudevitch-Pujol, Anne-Laure; Vincent, Christophe; Renard, Christian; Franco-Vidal, Valerie; Thibult-Apt, Claire; Darrouzet, Vincent; Bizaguet, Eric; Coez, Arnaud; Aschard, Hugues; Michalski, Nicolas; Lefevre, Gaelle M.; Aubois, Anne; Avan, Paul; Bonnet, Crystel; Petit, Christine
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function
EMBO MOLECULAR MEDICINE
IF8.3
2019-08-2616
OAAI
Dunbar, Lucy A.; Patni, Pranav; Aguilar, Carlos; Mburu, Philomena; Corns, Laura; Wells, Helena R. R.; Delmaghani, Sedigheh; Parker, Andrew; Johnson, Stuart; Williams, Debbie; Esapa, Christopher T.; Simon, Michelle M.; Chessum, Lauren; Newton, Sherylanne; Dorning, Joanne; Jeyarajan, Prashanthini; Morse, Susan; Lelli, Andrea; Codner, Gemma F.; Peineau, Thibault; Gopal, Suhasini R.; Alagramam, Kumar N.; Hertzano, Ronna; Dulon, Didier; Wells, Sara; Williams, Frances M.; Petit, Christine; Dawson, Sally J.; Brown, Steve D. M.; Marcotti, Walter; El-Amraoui, Aziz; Bowl, Michael R.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
NATURE GENETICS
IF31.8
2003-03-10648
OAAI
Dodé, C; Levilliers, J; Dupont, JM; De Paepe, A; Le Dû, N; Soussi-Yanicostas, N; Coimbra, RS; Delmaghani, S; Compain-Nouaille, S; Baverel, F; Pêcheux, C; Le Tessier, D; Cruaud, C; Delpech, M; Speleman, F; Vermeulen, S; Amalfitano, A; Bachelot, Y; Bouchard, P; Cabrol, S; Carel, JC; Delemarre-van de Waal, H; Goulet-Salmon, B; Kottler, ML; Richard, O; Sanchez-Franco, F; Saura, R; Young, J; Petit, C; Hardelin, JP

研究方向

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C
Christine Petit
H 指数:99论文数:638被引数:3.2万
A
A. Amraoui
H 指数:49论文数:307被引数:7,990
P
Paul Avan
H 指数:46论文数:323被引数:7,687
D
Didier Dulon
H 指数:39论文数:110被引数:4,063
M
Michael R. Bowl
H 指数:33论文数:96被引数:3,800
A
Andrea Lelli
H 指数:19论文数:30被引数:1,956
A
Asadollah Aghaie
H 指数:15论文数:23被引数:1,586
P
Pranav Patni
H 指数:4论文数:12被引数:274
C
Crystel Bonnet
H 指数:26论文数:106被引数:2,668
D
Dominique Weil
H 指数:67论文数:258被引数:1.5万