Sébastien Küry - Publications, H-index & Citations

Sébastien Küry

Nantes Université

51H指数

231论文数

1.0W被引数

收录论文 108

发表时间

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder PCBP1基因中的全新变异导致神经发育障碍

Molecular Psychiatry

IF10.1

2026-09-16

PREAI

Wallid Deb; Thomas Besnard; Florence Desprez; Benjamin Cogné; Laura Do Souto Ferreira; Virginie Vignard; Sylviane Marouillat; Louis Januel; Svetlana Gorokhova; Tiffany Busa; Victor Morel; Benjamin Dauriat; Vincent Des Portes; Eyyüp Üçtepe; Özlem Akgün Doğan; Ahmet Yeşilyurt; Yasemin Alanay; Anne M. Slavotinek; Yu An; Hane Lee; Jessy Hary; Peter Kannu; Taryn B. Athey; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Patricia Dickson; Rachel Slaugh; Fadi F. Hamdan; Jean-François Soucy; Jacques L. Michaud; Alison M. Muir; Rebecca Buchert; Tobias B. Haack; Dominic Imort; Sérgio B. Sousa; Belinda Campos-Xavier; Pedro M. Almeida; Borut Peterlin; Sophie Kaspar; Christian Netzer; Hans Zempel; Meghan C. Towne; Roger L. Ladda; Susan L. Sell; Lina Quteineh; Romane Meurs; Stylianos E. Antonarakis; Pawel Gawlinski; Xiaofei Song; Wojciech Wiszniewski; Daniel G. Calame; Jennifer E. Posey; Frederic Ebstein; James R. Lupski; Bertrand Isidor; Stéphane Bézieau; Frédéric Laumonnier; Sébastien Küry

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders 剪接因子基因SF3B1的从头变异与神经发育障碍有关

Nature Communications

IF15.7

2026-01-23

OAAI

Kevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies 研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications

IF15.7

2025-11-26

OAAI

Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger

Multiple polygenic score approach in colorectal cancer risk prediction 结直肠癌风险预测中的多基因评分方法

Scientific Reports

IF3.9

2025-10-30

OAAI

Shangqing Joyce Jiang; Minta Thomas; Elisabeth A. Rosenthal; Amanda I. Phipps; Lori C. Sakoda; Franzel J. B. van Duijnhoven; Andrew J. Pellatt; Christy L. Avery; Sonja I. Berndt; D. Timothy Bishop; Sergi Castellví-Bel; Andrew T. Chan; Robert C. Grant; Chris Gignoux; Andrea Gsur; Marc J. Gunter; Christopher A. Haiman; Michael Hoffmeister; Gail P. Jarvik; Mark A. Jenkins; Temitope O. Keku; Sébastien Küry; Jeffrey K. Lee; Loic Le Marchand; Victor Moreno; Polly A. Newcomb; Christina C. Newton; Shuji Ogino; Julie R. Palmer; Rachel Pearlman; Conghui Qu; Robert E. Schoen; Caroline Y. Um; Bethany Van Guelpen; Kala Visvanathan; Veronika Vymetalkova; Emily White; Michael O. Woods; Elizabeth A. Platz; Hermann Brenner; Douglas A. Corley; Iris Landorp Vogelaar; Li Hsu; Ulrike Peters

Using gene-environment interactions to explore pathways for colorectal cancer risk 使用基因-环境相互作用探索结直肠癌风险的途径

EBIOMEDICINE

IF10.8

2025-10-01

OAAI

Bouras, Emmanouil; Yu, Ren; Kim, Andre E.; Markozannes, Georgios; Murphy, Neil; Albanes, Demetrius; Anderson, Laura N.; Barry, Elizabeth L.; Berndt, Sonja I.; Bishop, D. Timothy; Brenner, Hermann; Burnett-Hartman, Andrea; Campbell, Peter T.; Carreras-Torres, Robert; Chan, Andrew T.; Cheng, Iona; Devall, Matthew A.; Diez-Obrero, Virginia; Dimou, Niki; Drew, David A.; Gruber, Stephen B.; Gsur, Andrea; Hoffmeister, Michael; Hsu, Li; Huyghe, Jeroen R.; Kawaguchi, Eric; Keku, Temitope O.; Kundaje, Anshul; Kury, Sebastien; Le Marchand, Loic; Lewinger, Juan Pablo; Li, Li; Lynch, Brigid M.; Moreno, Victor; Morrison, John L.; Newton, Christina C.; Obon-Santacana, Mireia; Palmer, Julie R.; Papadimitriou, Nikos; Pellatt, Andrew J.; Peoples, Anita R.; Pharoah, Paul D. P.; Platz, Elizabeth A.; Qu, Conghui; Ruiz-Narvaez, Edward; Mendez, Joel Sanchez; Schoen, Robert E.; Stern, Mariana C.; Thomas, Claire E.; Tian, Yu; Um, Caroline Y.; Visvanathan, Kala; Vodicka, Pavel; Vymetalkova, Veronika; White, Emily; Wolk, Alicja; Woods, Michael O.; Wu, Anna H.; Gunter, Marc J.; Gauderman, W. James; Peters, Ulrike; Evangelou, Marina; Tsilidis, Konstantinos K.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up FAM111B相关性异色性皮病中泛素-蛋白酶体系统失调及表型谱扩展：新病例报告与长期随访

eBioMedicine

IF10.8

2025-08-20

PREAI

Virginie Vignard; Mike Maillasson; Anne Bigot; Sébastien Küry; Thomas Besnard; Martin Broly; Aurélie Guého; Emmanuelle Com; Erica Davis; Wallid Deb; Laëtitia Florenceau; Karen Sobriel; Grégoire Ménard; Betty Gardie; Alice Goldenberg; Joseph Porrmann; Randal Richardson; Léa Ruffier; Smail Hadj-Rabia; Stéphane Bézieau; Sébastien Barbarot; Frédéric Ebstein; Sandra Mercier

Role of CAMK2D in neurodevelopment and associated conditions CAMK2D在神经发育及其相关疾病中的作用

american journal of human genetics

IF0

2025-08-11

PREAI

Pomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van Woerden

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability

HUMAN MUTATION

IF3.7

2025-01-01

OAAI

Cordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure

Associations of blood lipids and LDL cholesterol lowering drug-targets with colorectal cancer risk: a Mendelian randomisation study

BRITISH JOURNAL OF CANCER

IF6.8

2024-11-23

OAAI

Chan, Wing Ching; Liu, Lili; Bouras, Emmanouil; Zuber, Verena; Wen, Wanqing; Long, Jirong; Gill, Dipender; Murphy, Neil; Gunter, Marc J.; Assimes, Themistocles L.; Bujanda, Luis; Gruber, Stephen B.; Kury, Sebastien; Lynch, Brigid M.; Qu, Conghui; Thomas, Minta; White, Emily; Woods, Michael O.; Peters, Ulrike; Li, Christopher I.; Chan, Andrew T.; Brenner, Hermann; Tsilidis, Konstantinos K.; Zheng, Wei

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

GENES & DISEASES

IF9.4

2024-11-01

OAAI

Cuinat, Silvestre; Bezieau, Stephane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Kury, Sebastien; Ebstein, Frederic

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study 女性性激素与肺癌和结直肠癌风险: 孟德尔随机研究

SCIENTIFIC REPORTS

IF3.9

2024-10-12

OAAI

Denos, Marion; Sun, Yi-Qian; Brumpton, Ben Michael; Li, Yafang; Albanes, Demetrius; Burnett-Hartman, Andrea; Campbell, Peter T.; Kuery, Sebastien; Li, Christopher I.; White, Emily; Samadder, Jewel N.; Jenkins, Mark A.; Mai, Xiao-Mei

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-10-01

OAAI

Chettle, James; Louie, Raymond J.; Larner, Olivia; Best, Robert; Chen, Kevin; Morris, Josephine; Dedeic, Zinaida; Childers, Anna; Rogers, R. Curtis; Dupont, Barbara R.; Skinner, Cindy; Kury, Sebastien; Uguen, Kevin; Planes, Marc; Monteil, Danielle; Li, Megan; Eliyahu, Aviva; Greenbaum, Lior; Mor, Nofar; Besnard, Thomas; Isidor, Bertrand; Cogne, Benjamin; Blesson, Alyssa; Comi, Anne; Wentzensen, Ingrid M.; Vuocolo, Blake; Lalani, Seema R.; Sierra, Roberta; Berry, Lori; Carter, Kent; Sanders, Stephan J.; Blagden, Sarah P.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder CUL3中的功能丧失变体导致综合征性神经发育障碍

ANNALS OF NEUROLOGY

IF7.7

2024-09-20

PREAI

Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response PSMD11功能丧失变体与神经行为表型，肥胖和干扰素反应增加相关

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-01

OAAI

Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder 双等位基因USP14变异引起综合征性神经发育障碍

GENETICS IN MEDICINE

IF6.2

2024-06-01

OAAI

Ebstein, Frederic; Latypova, Xenia; Hung, Ka Ying Sharon; Prado, Miguel A.; Lee, Byung-Hoon; Moeller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laetitia; Vignard, Virginie; Poirier, Lea; Toutain, Berenice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Kury, Sebastien; Bezieau, Stephane; Paulo, Joao A.; Finley, Daniel; Krueger, Elke; Ghezzi, Daniele; Isidor, Bertrand

Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer 膳食纤维、水果和蔬菜摄入与结直肠癌风险的全基因组相互作用研究

EBIOMEDICINE

IF10.8

2024-06-01

OAAI

Papadimitriou, Nikos; Kim, Andre; Kawaguchi, Eric S.; Morrison, John; Diez-Obrero, Virginia; Albanes, Demetrius; Berndt, Sonja I.; Bezieau, Stephane; Bien, Stephanie A.; Bishop, D. Timothy; Bouras, Emmanouil; Brenner, Hermann; Buchanan, Daniel D.; Campbell, Peter T.; Carreras-Torres, Robert; Chan, Andrew T.; Chang-Claude, Jenny; Conti, David, V; Devall, Matthew A.; Dimou, Niki; Drew, David A.; Gruber, Stephen B.; Harrison, Tabitha A.; Hoffmeister, Michael; Huyghe, Jeroen R.; Joshi, Amit D.; Keku, Temitope O.; Kundaje, Anshul; Kury, Sebastien; Le Marchand, Loic; Lewinger, Juan Pablo; Li, Li; Lynch, Brigid M.; Moreno, Victor; Newton, Christina C.; Obon-Santacana, Mireia; Ose, Jennifer; Pellatt, Andrew J.; Peoples, Anita R.; Platz, Elizabeth A.; Qu, Conghui; Rennert, Gad; Ruiz-Narvaez, Edward; Shcherbina, Anna; Stern, Mariana C.; Su, Yu-Ru; Thomas, Duncan C.; Thomas, Claire E.; Tian, Yu; Tsilidis, Konstantinos K.; Ulrich, Cornelia M.; Um, Caroline Y.; Visvanathan, Kala; Wang, Jun; White, Emily; Woods, Michael O.; Schmit, Stephanie L.; Macrae, Finlay; Potter, John D.; Hopper, John L.; Peters, Ulrike; Murphy, Neil; Hsu, Li; Gunter, Marc J.; Gauderman, W. James

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt ZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-03-01

OAAI

Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan

Role of CAMK2D in neurodevelopment and associated conditions

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-02-01

OAAI

Rigter, Pomme M. F.; de Konink, Charlotte; Dunn, Matthew J.; Onori, Martina Proietti; Humberson, Jennifer B.; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E.; Weaver, K. Nicole; Ryan, Thomas D.; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N.; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P.; Bezieau, Stephane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M.; Xia, Fan; Rosenfeld, Jill A.; Hsieh, Tzung-Chien; Krawitz, Peter M.; Elbracht, Miriam; Veenma, Danielle C. M.; Schulman, Howard; Stratton, Margaret M.; Kury, Sebastien; van Woerden, Geeske M.

Molecular and Phenotypic Characterization of the RORB-Related Disorder

NEUROLOGY

IF8.5

2024-01-23

PREAI

Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan

ANNALS OF NEUROLOGY

IF7.7

2023-10-20

OAAI

Musto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena

研究方向