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I

Ian A. Glass

university of washington
H指数:61
被引数:2.2万

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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

作者更正：非编码RNA基因RNU4-2中的biallelic变异导致一种具有独特白质变化的隐性神经发育综合征

Nature Genetics
IF29
2026-05-180
OAAI
Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

RNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。

Nature Genetics
IF29
2026-04-080
OAAI
Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

RNU4-2的饱和编辑揭示了不同的显性和隐性障碍

Nature
IF48.5
2026-04-080
OAAI
Joachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Christina M. Kajba; Benjamin Cogné; Yuyang Chen; Alexander J. M. Blakes; Cas Simons; Rocio Rius; Javeria R. Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V. Balton; Pierre Blanc; Daniel G. Calame; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Katrina M. Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G. Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J. Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G. MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M. Findlay
Rete ridges form via evolutionarily distinct mechanisms in mammalian skin

Rete ridge通过哺乳动物皮肤中的进化独特机制形成

Nature
IF48.5
2026-02-040
OAAI
Sean M. Thompson; Violet S. Yaple; Gabriella H. Searle; Quan M. Phan; Jasson Makkar; Xiangzheng Cheng; Ruiqi Liu; Anna Pulawska-Czub; Corin Yanke; Natalie M. Williams; Isabelle V. Busch; Tommy T. Duong; Matteo V. Corneto; Zachary S. Jordan; Debarun Roy; Adam B. Salmon; Ov D. Slayden; Brian P. Hermann; David A. Stoltz; Michael J. Welsh; Ian A. Glass; Krzysztof Kobielak; Qing Nie; Suoqin Jin; Heiko T. Jansen; Michela Ciccarelli; Maksim V. Plikus; Iwona M. Driskell; Ryan R. Driskell
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
2026-01-230
OA
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
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关，可导致体外神经元成熟受损。

Molecular Psychiatry
IF10.1
2025-11-240
OAAI
Florence Desprez; Solène Remize; Liberty François-Moutal; Dévina C. Ung; Audrey Dangoumau; Sylviane Marouillat; Joanna Kennedy; Karen J. Low; Camille Kumps; Sheila Unger; Boris Keren; Jean-Madeleine de Sainte Agathe; Céline Poirsier; Ghayda M. Mirzaa; Kimberly A. Aldinger; Gaetan Lesca; Valentin Ruault; Candice R. Finnila; Whitley V. Kelley; Donald R. Latner; Sushma N. Guptha; Annabelle Tuttle; Ian Glass; Wendy K. Chung; Jennifer Cassady Hayek; Odile Boute; Aubin Moutal; Médéric Jeanne; Frédéric Laumonnier
The evolution of hominin bipedalism in two steps

人科动物双足行走的两步演化

Nature
IF48.5
2025-08-270
OAAI
Gayani Senevirathne; Serena C. Fernandopulle; Daniel Richard; Stephanie L. Baumgart; Anika Liv Christensen; Matteo Fabbri; Jakob Höppner; Harald Jüppner; Peishu Li; Vivien Bothe; Nadia Fröbisch; Ian Simcock; Owen J. Arthurs; Alistair Calder; Naomi Freilich; Niamh C. Nowlan; Ian A. Glass; April Craft; Terence D. Capellini
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-06-010
OAAI
Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt, J. Lawrence; Muller, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Juusola, Jane; Yang, Jun

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