Jill Clayton-Smith - Manchester Centre for Genetic Medicine

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Bio

Professor Clayton-Smith's research interests include identifying the genetic basis and natural history of intellectual disability syndromes. She has a longstanding research interest in the effects on the fetus of taking antiepileptic drugs in pregnancy and has undertaken several studies in the area of cleft lip and palate.

Research Interests

Papers共 286 篇Author StatisticsCo-AuthorSimilar Experts

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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses

Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen

Nature Medicinepp.1-12, (2025)

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BCL11A Intellectual Developmental Disorder: Defining the Clinical Spectrum and Genotype-Phenotype Correlations

Angela Peron,Felice D'Arco,Kimberly A. Aldinger,Constance Smith-Hicks,Christiane Zweier,Gyri A. Gradek,Kimberley Bradbury,Andrea Accogli,Erica F. Andersen,Ping Yee Billie Au,Roberta Battini,Daniah Beleford,Lynne M. Bird,Arjan Bouman,Ange-Line Bruel,Oyvind Lovold Busk,Philippe M. Campeau,Valeria Capra,Colleen Carlston,Jenny Carmichael,Anna Chassevent,Jill Clayton-Smith,Michael J. Bamshad,Dawn L. Earl,Laurence Faivre,Christophe Philippe,Patrick Ferreira,Luitgard Graul-Neumann, Mary J. Green,Darrah Haffner,Parthiv Haldipur,Suhair Hanna,Gunnar Houge,Wendy D. Jones,Cornelia Kraus, Birgit Elisabeth Kristiansen,James Lespinasse,Karen J. Low,Sally Ann Lynch,Sofia Maia,Rong Mao, Ruta Kalinauskiene,Catherine Melver,Kimberly McDonald,Tara Montgomery,Manuela Morleo,Constance Motter,Amanda S. Openshaw,Janice Cox Palumbos,Aditi Shah Parikh, Yezmin Perilla-Young,Cynthia M. Powell,Richard Person,Megha Desai,Juliette Piard,Rolph Pfundt,Marcello Scala,Margaux Serey-Gaut,Deborah Shears,Anne Slavotinek,Mohnish Suri,Claire Turner,Tatiana Tvrdik,Karin Weiss,Ingrid M. Wentzensen,Marcella Zollino,Tzung-Chien Hsieh,Bert B. A. de Vries,Francois Guillemot,William B. Dobyns,David Viskochil,Cristina Dias

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

Cited4Views0WOSNATUREBibtex

Variants in ZFX Are Associated with an X-linked Neurodevelopmental Disorder with Recurrent Facial Gestalt

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

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

Cited1Views0WOSBibtex

The Use of Parent-Completed Questionnaires to Investigate Developmental Outcomes in Large Populations of Children Exposed to Antiseizure Medications in Pregnancy

Matthew Bluett-Duncan, Philip Bullen,Ellen Campbell,Jill Clayton-Smith,John Craig,Marta Garcia-Finana,David M. Hughes, Amy Ingham,Beth Irwin,Cerian Jackson, Teresa Kelly,James Morrow, Sarah Rushton,Janine Winterbottom,Amanda G. Wood,Laura M. Yates,Rebecca L. Bromley

Epilepsiano. 7 (2024): 2017-2029

Cited1Views0WOSBibtex

Characterising Clinically Relevant Complex Structural Variants in Craniosynostosis Using Long-Range Technologies

Yang Pei,Eduardo Calpena, Dagmara Korona,Louise Wilson,Wendy Jones,Tazeen Ashraf,Francesca Forzano,Deborah Shears,David Johnson,Gregory Thomas,Jill Clayton-Smith,Ajoy Sarkar, Urvi Savania,Melanie Tanguy,Adam Giess,Greg Elgar,Richard Gibbons,Stephen Twigg,Andrew Wilkie

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 37-37

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Epags' (european Patient Advocacy Groups) Role in the European Reference Network ITHACA on Intellectual Disability, TeleHealth, Autism and Congenital Anomalies: How Patients' Voices Improve Care

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 688-688

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HNRNPC Haploinsufficiency Affects Alternative Splicing of Intellectual Disability-Associated Genes and Causes a Neurodevelopmental Disorder

AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2023): 1414-1435

Cited5Views0WOSBibtex

A Solve-RD ClinVar-based Reanalysis of 1522 Index Cases from ERN-ITHACA Reveals Common Pitfalls and Misinterpretations in Exome Sequencing

GENETICS IN MEDICINEno. 4 (2023)

Cited3Views0WOSBibtex

Expanding SPTAN1 Monoallelic Variant Associated Disorders: from Epileptic Encephalopathy to Pure Spastic Paraplegia and Ataxia

GENETICS IN MEDICINE（2023）

Cited8Views0WOSBibtex

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