logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
A

Alexandre Reymond

university of lausanne
H指数:82
被引数:6.9万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Lipid transport is necessary for neocortical lamination

脂质运输对于新皮质层状结构是必要的

Genes & Diseases
IF9.4
2026-05-260
OAAI
Jacqueline Chrast; Stephan C. Collins; Catherine Roger; Siwar Ben-Ayache; Chiara Auwerx; Fabrizio Vacca; Océane Musset; Yann Emmenegger; Nicolas Goss; Hector Gallart-Ayala; Muhammad Ansar; Julijana Ivanisevic; Binnaz Yalcin; Alexandre Reymond
Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性

Cell
IF42.5
2025-10-070
OAAI
Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

BRF2基因的双等位基因变异与围产期死亡和颅面畸形相关。

GENOME MEDICINE
IF11.2
2025-04-140
OA
Mattioli, Francesca; Fridriksdottir, Run; Hebert, Anne; Bassani, Sissy; Ibrahim, Nazia; Naz, Shagufta; Chrast, Jacqueline; Pailler-Pradeau, Clara; Oddsson, Asmundur; Sulem, Patrick; Halldorsson, Gisli H.; Melsted, Pall; Guobjartsson, Daniel F.; Palombo, Flavia; Pippucci, Tommaso; Nouri, Nayereh; Seri, Marco; Farrow, Emily G.; Saunders, Carol J.; Guex, Nicolas; Ansar, Muhammad; Stefansson, Kari; Reymond, Alexandre
Further delineation of the SCAF4-associated neurodevelopmental disorder
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-120
OAAI
Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
GENOME BIOLOGY
IF9.4
2023-11-158
OAAI
Kretz, Perrine F.; Wagner, Christel; Mikhaleva, Anna; Montillot, Charlotte; Hugel, Sylvain; Morella, Ilaria; Kannan, Meghna; Fischer, Marie-Christine; Milhau, Maxence; Yalcin, Ipek; Brambilla, Riccardo; Selloum, Mohammed; Herault, Yann; Reymond, Alexandre; Collins, Stephan C.; Yalcin, Binnaz
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder

NSUN6中的双等位基因变体导致常染色体隐性神经发育障碍

GENETICS IN MEDICINE
IF6.2
2023-09-017
OAAI
Mattioli, Francesca; Worpenberg, Lina; Li, Cai-Tao; Ibrahim, Nazia; Naz, Shagufta; Sharif, Saima; Firouzabadi, Saghar G.; Vosoogh, Shohreh; Saraeva-Lamri, Radoslava; Raymond, Laure; Trujillo, Carlos; Guex, Nicolas; Antonarakis, Stylianos E.; Ansar, Muhammad; Darvish, Hossein; Liu, Ru-Juan; Roignant, Jean-Yves; Reymond, Alexandre
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-02-017
OAAI
Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'

回复Tellier等人的信，“对ESHG关于胚胎选择的声明的科学驳斥”

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-12-012
OAAI
Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; European Soc Human Genetics
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand
NUCLEIC ACIDS RESEARCH
IF13.1
2022-09-2111
OAAI
Mikhailova, Alina G.; Mikhailova, Alina A.; Ushakova, Kristina; Tretiakov, Evgeny O.; Iliushchenko, Dmitrii; Shamansky, Victor; Lobanova, Valeria; Kozenkov, Ivan; Efimenko, Bogdan; Yurchenko, Andrey A.; Kozenkova, Elena; Zdobnov, Evgeny M.; Makeev, Vsevolod; Yurov, Valerian; Tanaka, Masashi; Gostimskaya, Irina; Fleischmann, Zoe; Annis, Sofia; Franco, Melissa; Wasko, Kevin; Denisov, Stepan; Kunz, Wolfram S.; Knorre, Dmitry; Mazunin, Ilya; Nikolaev, Sergey; Fellay, Jacques; Reymond, Alexandre; Khrapko, Konstantin; Gunbin, Konstantin; Popadin, Konstantin
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
HUMAN MOLECULAR GENETICS
IF3.2
2022-09-068
OAAI
Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A.
PIGN encephalopathy: Characterizing the epileptology
EPILEPSIA
IF6.6
2022-02-189
OA
Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.

研究方向

暂未获取到该数据
S
Stylianos E. Antonarakis
H 指数:146论文数:921被引数:10.4万
R
Roderic Guigó
H 指数:126论文数:707被引数:12.6万
G
Giuseppe Merla
H 指数:55论文数:225被引数:1.7万
S
Sébastien Jacquemont
H 指数:65论文数:340被引数:1.5万
J
Jacqueline Chrast
H 指数:27论文数:63被引数:2.8万
J
Jennifer Harrow
H 指数:64论文数:175被引数:5.5万
Z
Zoltán Kutalik
H 指数:117论文数:604被引数:7.2万
A
Adam Frankish
H 指数:64论文数:151被引数:4.8万
A
Anne Maillard
H 指数:38论文数:150被引数:4,902
E
Emmanouil T. Dermitzakis
H 指数:122论文数:407被引数:10.4万