Huw Thomas

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Bio

His principal research interests are in the fields of:
Assessment of familial risk of colorectal cancer
Modification of familial risk by genetic testing
Colonoscopic surveillance for familial risk of colorectal cancer
Molecular genetic studies in familial colorectal cancer
Chemoprevention studies in familial colorectal cancer

Research Interests

Papers共 179 篇Author StatisticsCo-AuthorSimilar Experts

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Utility of Genome Sequencing and Group-Enrichment to Support Splice Variant Interpretation in Marfan Syndrome

Susan Walker,David J Bunyan,Huw B Thomas,Yesim Kesim,Christopher J Kershaw,John Holloway,Htoo Wai, Michael Day, Cassandra L Smith,Gareth Hawkes,Andrew R Wood,Michael N Weedon, Ed Blair,Stephanie L Curtis, Catherine Fielden,Julie Evans,Rebecca Whittington,Sarah F Smithson,Helen Cox,Paul Clift,Meriel McEntagart,Matina Prapa, Suzanne Alsters, Deborah Morris-Rosendahl,John Dean,Patrick J Morrison,Abhijit Dixit,Ajoy Sarkar,Katrina Prescott, Leila Amel Riazat Kesh, Riya Tharakan,Claire Turner,Sian Ellard,Charles Shaw-Smith,James Fasham,Virginia Clowes,Simon Holden, Suresh Somarathi,Catherine Mercer,Ian Berry,Raymond T O'Keefe,Siddharth Banka,Diana Baralle,N Simon Thomas,Emma L Baple,Jenny C Taylor,Alistair T Pagnamenta

Genetics in medicine official journal of the American College of Medical Geneticspp.101477-101477, (2025)

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Bi-allelic Variants in DAP3 Result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Apoptosis and a Perrault-syndrome-spectrum Phenotype

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2025)

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Biallelic Variants in MRPL49 Cause Variable Clinical Presentations, Including Sensorineural Hearing Loss, Leukodystrophy, and Ovarian Insufficiency

Huw B Thomas,Leigh A M Demain,Alfredo Cabrera-Orefice,Isabelle Schrauwen,Hanan E Shamseldin,Alessandro Rea,Thashi Bharadwaj,Thomas B Smith,Monika Oláhová,Kyle Thompson,Langping He,Namanpreet Kaur,Anju Shukla,Musaad Abukhalid,Muhammad Ansar,Sakina Rehman,Saima Riazuddin,Firdous Abdulwahab,Janine M Smith,Zornitza Stark, Hanifenur Mancilar, Sait Tumer, Fatma N Esen, Eyyup Uctepe, Vehap Topcu, Ahmet Yesilyurt,Erum Afzal, Mehri Salari, Christopher Carroll,Giovanni Zifarelli, Peter Bauer, Deniz Kor, Fatma D Bulut, Henry Houlden, Reza Maroofian,Samantha Carrera,Wyatt W Yue,Kevin J Munro,Fowzan S Alkuraya, Peter Jamieson,Zubair M Ahmed,Suzanne M Leal,Robert W Taylor,Ilka Wittig,Raymond T O'Keefe,William G Newman

American journal of human geneticsno. 4 (2025): 952-962

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FUT8 is a Critical Driver of Prostate Tumour Growth and Can Be Targeted Using Fucosylation Inhibitors

Kayla Bastian, Margarita Orozco-Moreno,Huw Thomas, Kirsty Hodgson, Eline A Visser,Emiel Rossing, Johan F A Pijnenborg, Nienke Eerden, Laura Wilson, Hasvini Saravannan, Oliver Hanley,Grace Grimsley, Fiona Frame, Ziqian Peng, Bridget Knight, Paul McCullagh, John McGrath, Malcolm Crundwell,Lorna Harries,Norman J Maitland,Rakesh Heer,Ning Wang,Ethan D Goddard-Borger,Ramon Hurtado Guerrero,Thomas J Boltje, Richard R Drake,Emma Scott,David J Elliott,Jennifer Munkley

Cancer medicine（2025）

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Biallelic Variants Indap3result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Intrinsic and Extrinsic Apoptosis and a Perrault Syndrome-Spectrum Phenotype

medRxiv the preprint server for health sciences (2024)

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Surveillance Outcomes in Hereditary Mixed Polyposis Syndrome

Sari Lieberman,Menna Hawkins, Kalaikshiga Kengadaran,Menachem Schechter,Naim Abu-Freha,Ido Laish,Rinat Bernstein Molho, Alon Basevitch,Rakefet Chen-Shtoyerman,Elizabeth E. Half,Lior H. Katz, Sofia Naftaly-Nathan,Gili Reznick Levi, Nadra Samra,Sharon Simchoni, Revital Bruchim,Chana Vinkler,Amit Weinstein,Rachel Gingold-Belfer,Zohar Levy,Kevin Monahan,Ian Tomlinson,Huw Thomas,Yael Goldberg,Andrew Latchford

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 586-587

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Deep Intronic Variant Causes Aberrant Splicing of ATP7A in a Family with a Variable Occipital Horn Syndrome Phenotype

J. Robert Harkness,Huw B. Thomas,Jill E. Urquhart, Peter Jamieson,Raymond T. O'Keefe,Helen M. Kingston, Charulata Deshpande,William G. Newman

EUROPEAN JOURNAL OF MEDICAL GENETICS（2024）

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Papers共 179 篇Author StatisticsCo-AuthorSimilar Experts