基本信息
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Bio
Paediatric clinical geneticist with 28 years’ experience predominantly in rare genetic disorders and in the care of children and families with life-limiting disorders. Clinical and research interest in paediatric neuromuscular and DNA repair disorders
Experience with a number of national committees or working groups. Currently member of HST Committee of NICE. Special interest in translating new technologies into a clinical setting to enable the successful delivery of multidisciplinary services
Research Interests
Papers共 100 篇Author StatisticsCo-AuthorSimilar Experts
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Nicolas Le May, Jérémie Courraud, Imène Boujelbène,Cathy Obringer,Tomoo Ogi, Alan R Lehmann,Fanny Laffargue, Daphné Lehalle,Seiji Mizuno,Shehla Mohammed, Clothilde Ormières,Marjolaine Willems,Vincent Laugel,Nadège Calmels
Frontiers in neuroscience (2025): 1554093-1554093
British Journal of Dermatologyno. Supplement_1 (2024): i84-i85
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)
Neurology Clinical Practiceno. 4 (2024)
Seth A. Stafki,Johnnie Turner,Hannah R. Littel,Christine C. Bruels,Don Truong, Ursula Knirsch,Georg M. Stettner,Urs Graf,Wolfgang Berger,Maria Kinali,Heinz Jungbluth,Christina A. Pacak, Jayne Hughes,Amytice Mirchi,Alexa Derksen,Catherine Vincent-Delorme,Arjan F. Theil,Genevieve Bernard, David Ellis,Hiva Fassihi,Alan R. Lehmann,Vincent Laugel,Shehla Mohammed,Peter B. Kang
BRAINno. 12 (2023): 5044-5059
Carolina Gracia-Diaz,Yijing Zhou,Qian Yang,Reza Maroofian,Paula Espana-Bonilla,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A. Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E. Sheppard,Paul Mark,Margaret H. Harr,Hakon Hakonarson,Lance Rodan,Adam Jackson,Pradeep Vasudevan, Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A. Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman,Shazia Maqbool,Vincenzo Salpietro,Shahnaz H. Ibrahim,Gabriella di Rosa,Henry Houlden, Maha Nasser Alharbi,Nouriya Abbas Al-Sannaa,Peter Bauer,Giovanni Zifarelli,Conchi Estaras,Anna C. E. Hurst,Michelle L. Thompson,Anna Chassevent,Constance L. Smith-Hicks,Xavier de la Cruz,Alexander M. Holtz,Houda Zghal Elloumi,M J Hajianpour,Claudine Rieubland,Dominique Braun,Siddharth Banka,J. C. Ambrose,Deborah L. French,Elizabeth A. Heller,Murielle Saade,Hongjun Song,Guo-li Ming,Fowzan S. Alkuraya,Pankaj B. Agrawal,Danny Reinberg,Elizabeth J. Bhoj,Marian A. Martínez-Balbás,Naiara Akizu
Nature Communicationsno. 1 (2023)
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
Mary R. Sy,Jaynee Chauhan,Katrina Prescott,Aliza Imam,Alison Kraus,Ana Beleza,Lee Salkeld,Saraswati Hosdurga,Michael Parker,Pradeep Vasudevan,Lily Islam,Himanshu Goel,Nicole Bain,Soo-Mi Park,Shehla Mohammed,Klaus Dieterich,Charles Coutton,Veronique Satre,Gaelle Vieville,Alan Donaldson,Claire Beneteau,Jamal Ghoumid,Kris Van den Bogaert,Anneleen Boogaerts,Elise Boudry,Clemence Vanlerberghe,Florence Petit,Laura Bernardini,Barbara Torres,Teresa Mattina,Diana Carli,Giorgia Mandrile,Michele Pinelli,Nicola Brunetti-Pierri,Katherine Neas,Rachel Beddow,Pernille M. Torring,Flavio Faletra,Beatrice Spedicati,Paolo Gasparini,Alessandro Mussa,Giovanni Battista Ferrero,Anne Lampe,Wayne Lam,Weimin Bi,Carlos A. Bacino,Akela Kuwahara,Jeffrey O. Bush,Xiaonan Zhao,Pamela N. Luna,Chad A. Shaw,Jill A. Rosenfeld,Daryl A. Scott
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Author Statistics
#Papers: 101
#Citation: 9965
H-Index: 41
G-Index: 79
Sociability: 8
Diversity: 3
Activity: 22
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