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研究兴趣

论文共 12 篇作者统计合作学者相似作者

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Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
Claire E Green, Shadi Albaba, Glenda J Sobey, Jessica M Bowen, Deirdre E Donnelly,Marina Colombi,Marco Ritelli, Athalie Melville,Neeti Ghali,Fleur S van Dijk,Emma Hobson,Jessica A Radley,Esther Kinning,Abhijit Dixit, Simon McCullough,Duncan Baker, Diana S Johnson
European journal of human genetics EJHG (2025)
引用0浏览0WOSNATURE引用
0
0
Arginine:glycine Amidinotransferase (AGAT) Deficiency: an Easy-to-miss Treatable Adult-Onset Myopathy
Yael Finezilber, Charlotte Massey,Jessica A. Radley,Elaine Murphy
Practical Neurologypp.pn-003954, (2024)
引用0浏览0WOS引用
0
0
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)
引用0浏览0引用
0
0
Truncating SRCAP Variants Outside the Floating-Harbor Syndrome Locus Cause a Distinct Neurodevelopmental Disorder with a Specific DNA Methylation Signature
Dmitrijs Rots,Eric Chater-Diehl,Alexander J. M. Dingemans,Sarah J. Goodman,Michelle T. Siu,Cheryl Cytrynbaum,Sanaa Choufani,Ny Hoang,Susan Walker,Zain Awamleh,Joshua Charkow,Stephen Meyn,Rolph Pfundt,Tuula Rinne,Thatjana Gardeitchik,Bert B. A. de Vries,A. Chantal Deden,Erika Leenders,Michael Kwint,Constance T. R. M. Stumpel,Servi J. C. Stevens,Jeroen R. Vermeulen, Jeske V. T. van Harssel,Danielle G. M. Bosch,Koen L. van Gassen,Ellen van Binsbergen,Christa M. de Geus, Hein Brackel,Maja Hempel,Davor Lessel,Jonas Denecke,Anne Slavotinek,Jonathan Strober,Amy Crunk,Leandra Folk,Ingrid M. Wentzensen,Hui Yang,Fanggeng Zou,Francisca Millan,Richard Person,Yili Xie,Shuxi Liu,Lilian B. Ousager,Martin Larsen,Laura Schultz-Rogers,Eva Morava,Eric W. Klee,Ian R. Berry, Jennifer Campbell,Kristin Lindstrom,Brianna Pruniski,Ann M. Neumeyer,Jessica A. Radley,Chanika Phornphutkul,Berkley Schmidt,William G. Wilson,Katrin Ounap,Karit Reinson,Sander Pajusalu,Arie van Haeringen,Claudia Ruivenkamp,Roos Cuperus,Fernando Santos-Simarro,Maria Palomares-Bralo,Marta Pacio-Miguez,Alyssa Ritter,Elizabeth Bhoj,Elin Tonne,Kristian Tveten,Gerarda Cappuccio,Nicola Brunetti-Pierri, Leah Rowe,Jason Bunn,Margarita Saenz,Konrad Platzer,Mareike Mertens,Oana Caluseriu,Malgorzata J. M. Nowaczyk,Ronald D. Cohn,Peter Kannu,Ebba Alkhunaizi,David Chitayat,Stephen W. Scherer,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,David A. Koolen,Rosanna Weksberg
The American Journal of Human Genetics（2021）
引用40浏览0WOS引用
40
0
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作者统计

#Papers: 12

#Citation: 142

H-Index: 6

G-Index: 7

Sociability: 6

Diversity: 2

Activity: 2

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