Nicola Whiffin

University of Oxford

H指数:47

被引数:2.2万

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Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores

使用SpliceAI对7,220名罕见病患者中的剪接改变变异进行分层，突显了预计算得分的局限性

Genome Medicine

IF11.2

2026-10-270

OAAI

Modulating splicing in 5ʹ untranslated regions to treat rare haploinsufficient disease

通过调控5ʹ非翻译区剪接来治疗罕见半合子不足疾病

Genome Medicine

IF11.2

2026-09-190

OAAI

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders

Genome Medicine

IF11.2

2026-07-220

Christy W. LaFlamme; Chris Clarkson; Kristina Ibañez; Jin-Yuan Wang; Soham Sengupta; Jenny Lord; Virginia Valentine; Emily S. Bonkowski; Edith P. Almanza Fuerte; Athena R. Olszewski; Sourav Ghosh; Bharati Jadhav; Taralynn Mack; Jiadong Lin; Sophia B. Gibson; Johanna M. van Hagen; Mariëlle Alders; Alexandra Martin-Geary; Bida Gu; Mira Kharbanda; Siddharth Banka; Helen M. Stuart; Andrew R. Webster; Akimoto Hosokawa; Harriet Dashnow; Richa Bajpai; Shondra M. Pruett-Miller; Mark J.P. Chaisson; Danny E. Miller; Nicola Whiffin; Evan E. Eichler; Sanjay M. Sisodiya; Henry Houlden; Andrew J. Sharp; Bekim Sadikovic; Marc Valentine; Lynette G. Sadleir; Arianna Tucci; Heather C. Mefford

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

Translon: a single term for translated regions

Świrski, M.I.; Tierney, J.A.S.; Albà, M.M.; Andreev, D.E.; Aspden, J.L.; Atkins, J.F.; Bassani-Sternberg, M.; Berry, M.J.; Biffo, S.; Boris-Lawrie, K.; 等. Translon: 翻译区域的单一术语. Nat. Methods 2025, 22, 2002–2006. [Google Scholar] [CrossRef] [PubMed]

Nature Methods

IF32.1

2025-09-010

PRE

Michał I. Świrski; Jack A. S. Tierney; M. Mar Albà; Dmitry E. Andreev; Julie L. Aspden; John F. Atkins; Michal Bassani-Sternberg; Marla J. Berry; Stefano Biffo; Kathleen Boris-Lawrie; Mark Borodovsky; Ian Brierley; Matthew Brook; Marie A. Brunet; Janusz M. Bujnicki; Neva Caliskan; Lorenzo Calviello; Anne-Ruxandra Carvunis; Jamie H. D. Cate; Can Cenik; Kung Yao Chang; Yiwen Chen; Sonia Chothani; Jyoti S. Choudhary; Patricia L. Clark; Jim Clauwaert; Lynn Cooley; Erik Dassi; Kellie Dean; Jean-Jacques Diaz; Christoph Dieterich; Rivka Dikstein; Jonathan D. Dinman; Sergey E. Dmitriev; Olga A. Dontsova; Christine M. Dunham; Sandeep M. Eswarappa; Philip J. Farabaugh; Pouya Faridi; Ivo Fierro-Monti; Andrew E. Firth; David Gatfield; Fátima Gebauer; Mikhail S. Gelfand; Nicola K. Gray; Rachel Green; Chris H. Hill; Ya-Ming Hou; Norbert Hübner; Zoya Ignatova; Pavel Ivanov; Shintaro Iwasaki; Rory Johnson; Ahmad Jomaa; Marko Jovanovic; Irwin Jungreis; Manolis Kellis; Jeffrey S. Kieft; Alex V. Kochetov; Eugene V. Koonin; Andrei A. Korostelev; Joanna Kufel; Ivan V. Kulakovskiy; Leo Kurian; Denis L. J. Lafontaine; Ola Larsson; Gary Loughran; Julius Lukeš; Marco Mariotti; Elena S. Martens-Uzunova; Thomas F. Martinez; Akinobu Matsumoto; Joel McManus; Jan Medenbach; Sergey V. Melnikov; Gerben Menschaert; Catharina Merchante; Martin Mikl; W. Allen Miller; Oliver Mühlemann; Olivier Namy; Danny D. Nedialkova; Jozef Nosek; Sandra Orchard; Petar Ozretić; Mihaela Pertea; Dmitri D. Pervouchine; Luísa Romão; David Ron; Xavier Roucou; Maria P. Rubtsova; Jorge Ruiz-Orera; Alan Saghatelian; Steven L. Salzberg; Lucia A. Seale; Cathal Seoighe; Petr V. Sergiev; Premal Shah; Nikolay Shirokikh; Sarah A. Slavoff; Nahum Sonenberg; Timothy J. Stasevich; Roman J. Szczesny; Tiina Tamm; Marek Tchórzewski; Ivan Topisirovic; Michel L. Tremblay; Tamir Tuller; Igor Ulitsky; Leoš Shivaya Valášek; Petra Van Damme; Gabriella Viero; Juan Antonio Vizcaino; Christine Vogel; Edward W. J. Wallace; Jonathan S. Weissman; Eric Westhof; Nicola Whiffin; Daniel N. Wilson; Zhi Xie; Jonathan W. Yewdell; Martina M. Yordanova; Chien-Hung Yu; Vyacheslav Yurchenko; Bojan Zagrovic; Eivind Valen; Pavel V. Baranov

The role of untranslated region variants in Mendelian disease: a review

未翻译区域变异体在孟德尔疾病中的作用：综述

European Journal of Human Genetics

IF4.6

2025-07-030