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Nicola Whiffin

university of oxford

47H-index
172Paper Count
2.2WCitation Count
Published Papers 64
Publication Date
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
err2026-07-22
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errChristy 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
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Accurately modeling RNase H-mediated antisense oligonucleotide efficacy
err2026-07-07
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errOAAI
errBarney Hill; Maisie R. Jaques; Remya R. Nair; Nicola Whiffin; Matthew J.A. Wood; Stephan J. Sanders; Peter L. Oliver; Alyssa C. Hill; Carlo Rinaldi
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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
err2026-05-18
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errOAAI
errRocio 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
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-04-08
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errOAAI
errRocio 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
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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
errNature
IF48.5
err2026-04-08
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errOAAI
errJoachim 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
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The role of untranslated region variants in Mendelian disease: a review
err2025-07-03
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errOAAI
errNechama Wieder; Elston N. D’Souza; Ruebena Dawes; Alexander Chan; Alexandra Martin-Geary; Nicola Whiffin
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Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome
err2025-01-30
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errAnsari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison
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Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents
err2024-12-23
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PREAI
errGray, Belinda; Behr, Elijah R.; Papatheodorou, Efstathios; Bakalakos, Athanasios; Raju, Hariharan; Wijeyeratne, Yanushi D.; Finocchiaro, Gherardo; Malhotra, Aneil; Whiffin, Nicola; Ware, James S.; Esteban, Maria Tome; Sheppard, Mary N.; Sharma, Sanjay; Papadakis, Michael
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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
err2024-12-01
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errOAAI
errLord, Jenny; Oquendo, Carolina J.; Wai, Htoo A.; Holloway, John G.; Martin-Geary, Alexandra; Blakes, Alexander J. M.; Arciero, Elena; Domcke, Silvia; Childs, Anne-Marie; Low, Karen; Rankin, Julia; Baralle, Diana; Martin, Hilary C.; Whiff, Nicola
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Implications of age and sex on the diagnostic yield of sudden arrhythmic death syndrome
err2024-10-28
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PREAI
errGray, B.; Behr, E. R.; Papatheodorou, E.; Raju, H.; Wijeyeratne, Y.; Finocchiaro, G.; Malhotra, A.; Cook, S.; Whiffin, N.; Ware, J.; Tome Esteban, M.; Sheppard, M.; Sharma, S.; Papadakis, M.
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The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
err2024-09-03
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errRowlands, Charlie F.; Garrett, Alice; Allen, Sophie; Durkie, Miranda; Burghel, George J.; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; McVeigh, Terri P.; Hanson, Helen; Whiffin, Nicola; Jones, Michael; Turnbull, Clare
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Modulation of prion protein expression through cryptic splice site manipulation
err2024-08-01
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errOAAI
errGentile, Juliana E.; Corridon, Taylor L.; Mortberg, Meredith A.; D'Souza, Elston Neil; Whiffin, Nicola; Minikel, Eric Vallabh; Vallabh, Sonia M.
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Ribosome decision graphs for the representation of eukaryotic RNA translation complexity
err2024-05-07
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errOAAI
errTierney, Jack A. S.; Swirski, Michal; Tjeldnes, Hakon; Mudge, Jonathan M.; Kufel, Joanna; Whiffin, Nicola; Valen, Eivind; Baranov, Pavel V.
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
err2024-04-29
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errOAAI
errWieder, Nechama; D'Souza, Elston N.; Martin-Geary, Alexandra C.; Lassen, Frederik H.; Talbot-Martin, Jonathan; Fernandes, Maria; Chothani, Sonia P.; Rackham, Owen J. L.; Schafer, Sebastian; Aspden, Julie L.; Macarthur, Daniel G.; Davies, Robert W.; Whiffin, Nicola
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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
err2024-02-01
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errRoberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen, V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S.
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Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
err2023-07-11
err14
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errAllouba, Mona; Walsh, Roddy; Afify, Alaa; Hosny, Mohammed; Halawa, Sarah; Galal, Aya; Fathy, Mariam; Theotokis, Pantazis, I; Boraey, Ahmed; Ellithy, Amany; Buchan, Rachel; Govind, Risha; Whiffin, Nicola; Anwer, Shehab; ElGuindy, Ahmed; Ware, James S.; Barton, Paul J. R.; Yacoub, Magdi; Aguib, Yasmine
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Not all exons are protein coding: Addressing a common misconception
err2023-04-01
err5
errOAAI
errAspden, Julie L.; Wallace, Edward W. J.; Whiffin, Nicola
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
err2023-02-01
err15
errOAAI
errHoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q. C. M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N.; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D. H.; Hauer, Arnaud D.; Lam, Lien; van Lint, Freyja H. M.; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J.; van Mil, Anneke M.; Oldenburg, Rogier A.; Pachter, Nicholas; Planken, R. Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J.; Thompson, Tina; Vohra, Jitendra; Volders, Paul G. A.; van Waning, Jaap I.; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S.; Wilde, Arthur A. M.; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A.; Wheeler, Matthew T.; Ware, James S.; van Tintelen, J. Peter; Ingles, Jodie
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