Rachel Harrison - Department of Clinical Genetics, Nottingham University Hospitals NHS Trust

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论文共 33 篇作者统计合作学者相似作者

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

MOVEMENT DISORDERS（2024）

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Large-scale Evaluation of Outcomes Following a Genetic Diagnosis in Children with Severe Developmental Disorders

Harriet Copeland,Karen J Low,Sarah Wynn, Ayesha Ahmed, Victoria Arthur,Meena Balasubramanian, Katya Bennett,Jonathan Berg,Marta Bertoli,Lisa Bryson, Catrin Bucknall,Jamie Campbell,Kate Chandler,Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti,Philandra Costello, Tessa Coupar, Amy Craig,John Dean, Amy Dillon,Abhijit Dixit, Kathryn Drew,Jacqueline Eason,Francesca Forzano,Nicky Foulds,Alice Gardham,Neeti Ghali,Andrew Green, William Hanna,Rachel Harrison, Mairead Hegarty,Jenny Higgs,Muriel Holder,Rachel Irving,Vani Jain,Katie Johnson, Rachel Jolley,Wendy Jones,Gabriela Jones,Shelagh Joss, Ruta Kalinauskiene, Farah Kanini,Karl Kavanagh, Mahmudur Khan,Naz Khan,Emma Kivuva,Nayana Lahiri, Neeta Lakhani,Anne Lampe,Sally Ann Lynch,Sahar Mansour, Alice Marsden, Hannah Massey,Shane McKee,Shehla Mohammed,Swati Naik, Mithushanaa Nesarajah,Ruth Newbury-Ecob, Fiona Osborne,Michael J Parker,Jenny Patterson,Caroline Pottinger,Matina Prapa,Katrina Prescott, Shauna Quinn,Jessica A Radley,Sarah Robart,Alison Ross,Giulia Rosti,Francis Sansbury,Ajoy Sarkar,Claire Searle,Nora Shannon,Debbie Shears,Sarah Smithson,Helen Stewart,Mohnish Suri,Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki,Pradeep Vasudevan, Maribel Verdesoto,Emma Vittery, Sinead Whyte,Emily Woods,Thomas Wright,David Zocche,Helen V Firth,Caroline F Wright,the DDD Study

Genetics in Medicine Open (2024)

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Cancer Precision-Prevention Trial of Metformin in Adults with Li Fraumeni Syndrome (MILI) Undergoing Yearly MRI Surveillance: a Randomised Controlled Trial Protocol

Miriam Dixon-Zegeye, Rachel Shaw,Linda Collins, Kendra Perez-Smith,Alexander Ooms, Maggie Qiao,Pan Pantziarka,Louise Izatt,Marc Tischkowitz,Rachel E. Harrison,Angela George,Emma R. Woodward,Simon Lord,Lara Hawkes,D. Gareth Evans,James Franklin,Helen Hanson,Sarah P. Blagden

TRIALSno. 1 (2024)

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Dominant Stop-Loss HNRNPA1 Variants in Juvenile-Onset Myopathy

Johnnie Turner,Christine C. Bruels,Audrey L. Daugherty,Elicia A. Estrella,Seth Stafki,Safoora B. Syeda,Hannah R. Littel,Lynn Pais,Vijay S. Ganesh,Hart G. W. Lidov, Simon M. L. Paine,Paul Maddison,Rachel E. Harrison,Volker Straub,Partha S. Ghosh,Christina A. Pacak,Louis M. Kunkel,Isabelle Draper,Ana Topf,Peter B. Kang

MUSCLE & NERVEno. 4 (2024): 843-850

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Supplementary Glioma Genes from A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy

crossref（2023）

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Expanding the Phenotype of ASXL3-related Syndrome: a Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3 (vol 185A, Pg 3446, 2021)

Schaida Schirwani,Albaba J. Shadi,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Cinzia Costa,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Tyler Mark Pierson,Meena Balasubramanian

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 310-310

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Supplementary Information from A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy

crossref（2023）

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Data from A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy

Chris Hunter,Raffaella Smith,Daniel P. Cahill,Philip Stephens,Claire Stevens,Jon Teague, Chris Greenman,Sarah Edkins,Graham Bignell,Helen Davies, Sarah O'Meara,Adrian Parker,Tim Avis,Syd Barthorpe,Lisa Brackenbury,Gemma Buck, Adam Butler,Jody Clements,Jennifer Cole,Ed Dicks,Simon Forbes,Matthew Gorton,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Jonathon Hinton,Andy Jenkinson,David Jones,Vivienne Kosmidou,Ross Laman,Richard Lugg,Andrew Menzies,Janet Perry,Robert Petty,Keiran Raine, David Richardson,Rebecca Shepherd,Alexandra Small,Helen Solomon,Calli Tofts,Jennifer Varian,Sofie West,Sara Widaa,Andy Yates,Douglas F. Easton,Gregory Riggins,Jennifer E. Roy,Kymberly K. Levine,Wolf Mueller,Tracy T. Batchelor,David N. Louis, Michael R. Stratton, P. Andrew Futreal,Richard Wooster

crossref（2023）

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PSMC3 Proteasome Subunit Variants Are Associated with Neurodevelopmental Delay and Type I Interferon Production

Frederic Ebstein,Sebastien Kuery,Victoria Most,Cory Rosenfelt,Marie-Pier Scott-Boyer,Geeske M. van Woerden,Thomas Besrard,Jonas Johannes Papendorf,Maja Studencka-Turski,Tianyun Wang,Tzung-Chien Hsieh,Richard Golnik,Dustin Baldridge,Cara Forster,Charlotte de Konink,Selina M. W. Teurlings,Virginie Vignard,Richard H. van Jaarsveld,Lesley Ades,Benjamin Cogne,Cyril Mignot,Wallid Deb,Marjolijn C. J. Jongmans,F. Sessions Cole,Marie-Jose H. van den Boogaard,Jennifer A. Wambach,Daniel J. Wegner,Sandra Yang,Vickie Hannig,Jennifer Ann Brault,Neda Zadeh,Bruce Bennetts,Boris Keren,Anne-Claire Gelineau,Zoee Powis,Meghan Towne,Kristine Bachman,Andrea Seeley,Anita E. Beck,Jennifer Morrison,Rachel Westman,Kelly Averill,Theresa Brunet,Judith Haasters,Melissa T. Carter,Matthew Osmond,Patricia G. Wheeler,Francesca Forzano,Shehla Mohammed,Yannis Trakadis,Andrea Accogli,Rachel Harrison,Yiran Guo,Hakon Hakonarson,Sophie Rondeau,Genevieve Baujat,Giulia Barcia,Rene Guenther Feichtinger,Johannes Adalbert Mayr,Martin Preisel,Frederic Laumonnier,Tilmann Kallinich,Alexej Knaus,Bertrand Isidor,Peter Krawitz,Uwe Voelker,Elke Hammer,Arnaud Droit,Evan E. Eichler,Ype Elgersma,Peter W. Hildebrand,Francois Bolduc,Elke Krueger,Stephane Bezieau

Science translational medicine（2023）

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SDHC Phaeochromocytoma and Paraganglioma: A UK-wide Case Series

Sophie T. Williams,Prodromos Chatzikyriakou,Paul V. Carroll,Barbara M. McGowan,Anand Velusamy,Gemma White,Rupert Obholzer,Scott Akker,Nicola Tufton,Ruth T. Casey,Eamonn R. Maher,Soo-Mi Park,Mary Porteous,Rebecca Dyer, Tricia Tan,Florian Wernig,Angela F. Brady, Monika Kosicka-Slawinska,Benjamin C. Whitelaw,Huw Dorkins, Fiona Lalloo,Paul Brennan, Joseph Carlow,Richard Martin, Anna L. Mitchell,Rachel Harrison,Lara Hawkes,John Newell-Price,Alan Kelsall,Rebecca Igbokwe,Julian Adlard,Schaida Schirwani,Rosemarie Davidson, Patrick J. Morrison,Teng-Teng Chung, Christopher Bowles, Louise Izatt

CLINICAL ENDOCRINOLOGYno. 4 (2022): 499-512

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