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N

Nathalie Escande-Beillard

University of California System
H指数:16
被引数:936

个人简介

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教育背景

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工作经历

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荣誉奖项

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
NATURE COMMUNICATIONS
IF15.7
2024-02-273
OAAI
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saracoglu, Hilal Piril; Saribas, Burak; Avci, Sahin; Borklu, Esra; Beillard, Emmanuel; Yilmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, Leshon; Castro-Rojas, Derly Liseth; Bueltmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schadlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Glaeser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Boennemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Huelya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing
EMBO MOLECULAR MEDICINE
IF8.3
2023-01-184
OAAI
Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Traspas, Ricardo Moreno; Chia, Poh Hui; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Saribas, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El-Khateeb, Mohammad; Fathallah, Rajaa; Casanova, Jean-Laurent; Soror, Wesam; Arafat, Alaa; Escande-Beillard, Nathalie; Mayer, Andreas; Reversade, Bruno
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
NATURE COMMUNICATIONS
IF15.7
2022-10-1318
OAAI
Mascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem Kiran; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang; Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Reversade, Bruno; Wagner, Eric J.
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)
NATURE GENETICS
IF31.8
2022-01-212
OA
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (vol
NATURE COMMUNICATIONS
IF15.7
2020-10-190
OAAI
Elouej, Sahar; Harhouri, Karim; Le Mao, Morgane; Baujat, Genevieve; Nampoothiri, Sheela; Kayserili, Holya; Al Menabawy, Nihal; Selim, Laila; Paneque, Arianne Llamos; Kubisch, Christian; Lessel, Davor; Rubinsztajn, Robert; Charar, Chayki; Bartoli, Catherine; Airault, Coraline; Deleuze, Jean-Francois; Rotig, Agnes; Bauer, Peter; Pereira, Catarina; Loh, Abigail; Escande-Beillard, Nathalie; Muchir, Antoine; Martino, Lisa; Gruenbaum, Yosef; Lee, Song-Hua; Manivet, Philippe; Lenaers, Guy; Reversade, Bruno; Levy, Nicolas; De Sandre-Giovannoli, Annachiara
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
NATURE COMMUNICATIONS
IF15.7
2020-09-1138
OAAI
Elouej, Sahar; Harhouri, Karim; Le Mao, Morgane; Baujat, Genevieve; Nampoothiri, Sheela; Kayserili, Holya; Al Menabawy, Nihal; Selim, Laila; Paneque, Arianne Llamos; Kubisch, Christian; Lessel, Davor; Rubinsztajn, Robert; Charar, Chayki; Bartoli, Catherine; Airault, Coraline; Deleuze, Jean-Francois; Rotig, Agnes; Bauer, Peter; Pereira, Catarina; Loh, Abigail; Escande-Beillard, Nathalie; Muchir, Antoine; Martino, Lisa; Gruenbaum, Yosef; Lee, Song-Hua; Manivet, Philippe; Lenaers, Guy; Reversade, Bruno; Levy, Nicolas; De Sandre-Giovannoli, Annachiara
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2
NEURON
IF15
2020-07-0132
OAAI
Escande-Beillard, Nathalie; Loh, Abigail; Saleem, Sahar N.; Kanata, Kohei; Hashimoto, Yui; Altunoglu, Umut; Metoska, Artina; Grandjean, Joanes; Ng, Fui Mee; Pomp, Oz; Baburajendran, Nithya; Wong, Joyner; Hill, Jeffrey; Beillard, Emmanuel; Cozzone, Patrick; Zaki, Maha; Kayserili, Hulya; Hamada, Hiroshi; Shiratori, Hidetaka; Reversade, Bruno
Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2015-09-0165
OAAI
Fischer-Zirnsak, Bjoern; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E.; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L.; Loh, Abigail; Wright, Graham D.; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K.; Choudhri, Asim F.; Krueger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N.; Mundlos, Stefan; Villarroel, Camilo E.; Byers, Peter; Masri, Amira; Robertson, Stephen P.; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe
Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions
JOURNAL OF INVESTIGATIVE DERMATOLOGY
IF5.7
2015-01-0122
OAAI
Mamai, Ons; Boussofara, Lobna; Denguezli, Mohamed; Escande-Beillard, Nathalie; Kraeim, Wahiba; Merriman, Barry; Ben Charfeddine, Ilhem; Stevanin, Giovanni; Bouraoui, Sana; Amara, Abdelbasset; Mili, Amira; Nouira, Rafiaa; H'mida, Dorra; Sriha, Badreddine; Gribaa, Moez; Saad, Ali; Reversade, Bruno
Mutations in PYCR1 cause cutis laxa with progeroid features
NATURE GENETICS
IF31.8
2009-08-02204
PREAI
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjoern; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Huelya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nuernberg, Gudrun; Nuernberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe

研究方向

暂未获取到该数据
B
Bruno Reversade
H 指数:55论文数:281被引数:1.0万
A
Abigail Loh
H 指数:7论文数:23被引数:404
H
Hülya Kayserili
H 指数:71论文数:351被引数:2.0万
H
Hane Lee
H 指数:56论文数:234被引数:1.3万
M
Mohammad Shboul
H 指数:24论文数:77被引数:2,028
S
Stanley F. Nelson
H 指数:98论文数:422被引数:3.6万
B
Barry Merriman
H 指数:55论文数:156被引数:1.9万
S
Stefan Mundlos
H 指数:109论文数:761被引数:4.8万
U
Uwe Kornak
H 指数:52论文数:294被引数:9,862
S
Stephen P. Robertson
H 指数:60论文数:279被引数:1.2万