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个人简介
I am an NIHR Academic Clinical Lecturer in Clinical Genetics at the University of Cambridge. My research focusses on rare neurogenetic disorders, including mitochondrial disorders, Ataxia-Telangiectasia and congenital insensitivity to pain. My PhD focused on diagnostics, natural history and treatment of mitochondrial disorders. I completed my PhD in 2023, supervised by Professors Patrick Chinnery and Rita Horvath.
研究兴趣
论文共 40 篇作者统计合作学者相似作者
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Marcy E. Richardson,Megan Holdren,Terra Brannan,Miguel de la Hoya,Amanda B. Spurdle, Sean V. Tavtigian,Colin C. Young,Lauren Zec,Susan Hiraki,Michael J. Anderson,Logan C. Walker,Shannon McNulty,Clare Turnbull,Marc Tischkowitz,Katherine Schon,Thomas Slavin,William D. Foulkes,Melissa Cline,Alvaro N. Monteiro,Tina Pesaran
The American Journal of Human Genetics (2024)
Journal of neuromuscular diseasespp.1-9, (2024)
Katherine R. R. Schon, Dominic G. G. ODonovan,Mayen Briggs,James B. B. Rowe,Lokesh Wijesekera,Patrick F. F. Chinnery,Jelle van den Ameele
A. Corvó,L. Matalonga, C. Hernandez-Ferrer,R. Thompson,L. Carmody,D. Piscia,A. Macaya, A. Lochmuller, A. Manta, B. Fontaine,S. Vicart,J. Desaphy,C. Altamura,K. Wahbi,Annachiara De Sandre‐Giovannoli, C. Vigouroux,B. Zurek, C. Rheinard,D. Gómez- Andrés,K. Schon, L. Over,N. Brüggemann,K. Lohmann,M. J. Jennings,M. Synofzik,O. Riess,Rabah Ben Yaou,Teresinha Evangelista,T. Ratnaike,V. Bros-Facer,G. Gumus,R. Horvath,P. Chinnery,H. Graessner, P. Robinson,António Atalaia,H. Lochmuller,Sergi Beltrán,Gisèle Bonne
HAL (Le Centre pour la Communication Scientifique Directe) (2023)
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Renata Neves,Blanca De Dios Perez,Rafal Panek,Sumit Jagani,Sophie Wilne,Jayesh M. Bhatt,Caterina Caputi,Emilia Cirillo,David J. Coman,Gregor Dueckers,Donald L. Gilbert,Mary Kay Koenig,Lobna Mansour,Elizabeth McDermott,Micaela Pauni,Claudio Pignata,Susan L. Perlman,Oscar Porras,Mariela Betina Porto,Katherine Schon,Pere Soler-Palacin,Sam Nick Russo,Masatoshi Takagi,Marc Tischkowitz,Claire Wainwright,Madhumita Dandapani,Cristine Glazebrook,Mohnish Suri,William P. Whitehouse,Robert A. Dineen
Cancer medicineno. 13 (2023): 14663-14673
Toby Charles Major, Eszter Sara Arany,Katherine Schon,Magdolna Simo,Veronika Karcagi,Jelle van den Ameele,Patrick Yu Wai Man,Patrick F. Chinnery,Catarina Olimpio,Rita Horvath
FRONTIERS IN NEUROLOGY (2023)
Lindsay A. Wilson,William L. Macken,Luke D. Perry,Christopher J. Record,Katherine Schon,Rodrigo S. S. Frezatti,Sharika Raga,Kireshnee Naidu,Ozlem Yayici Koken,Ipek Polat,Musambo M. Kapapa,Natalia Dominik,Stephanie Efthymiou,Heba Morsy,Melissa Nel,Mahmoud R. Fassad,Fei Gao,Krutik Patel,Maryke Schoonen,Michelle Bisschoff,Armand Vorster,Hallgeir Jonvik,Ronel Human,Elsa Lubbe,Malebo Nonyane,Seena Vengalil,Saraswati Nashi,Kosha Srivastava,Richard J. L. F. Lemmers,Alisha Reyaz,Rinkle Mishra,Ana Topf, Christina I. Trainor,Elizabeth C. Steyn,Amokelani C. Mahungu,Patrick J. van der Vliet,Ahmet Cevdet Ceylan,A. Semra Hiz,Busranur Cavdarli,C. Nur Semerci Gunduz,Gulay Gulec Ceylan,Madhu Nagappa,Karthik B. Tallapaka,Periyasamy Govindaraj,Silvere M. van der Maarel,Gayathri Narayanappa,Bevinahalli N. Nandeesh,Somwe Wa Somwe,David R. Bearden,Michelle P. Kvalsund,Gita M. Ramdharry,Yavuz Oktay,Uluc Yis,Haluk Topaloglu,Anna Sarkozy,Enrico Bugiardini,Franclo Henning,Jo M. Wilmshurst,Jeannine M. Heckmann,Robert McFarland,Robert W. Taylor,Izelle Smuts,Francois H. van der Westhuizen,Claudia Ferreira da Rosa Sobreira,Pedro J. Tomaselli,Wilson Marques,Rohit Bhatia,Ashwin Dalal,M. V. Padma Srivastava,Sireesha Yareeda,Atchayaram Nalini,Venugopalan Y. Vishnu,Kumarasamy Thangaraj,Volker Straub,Rita Horvath,Patrick F. Chinnery,Robert D. S. Pitceathly,Francesco Muntoni,Henry Houlden,Jana Vandrovcova,Mary M. Reilly,Michael G. Hanna
Brainno. 12 (2023): 5098-5109
Bruce Nmezi,Guillermo Rodriguez Bey,Talia DeFrancesco Oranburg,Kseniia Dudnyk,Santana M Lardo,Nathan Herdman, Anastasia Jacko, Sandy Rubio,Emanuel Loeza Alcocer,Julia Kofler,Dongkyeong Kim,Julia Rankin,Emma Kivuva,Nicholas Gutowski,Katherine Schon,Jelle van den Ameele,Patrick F Chinnery,Sérgio B Sousa,Filipe Palavra,Camilo Toro,Filippo Pinto E Vairo, Jonas Saute,Lisa Pan,Murad Alturkustani,Robert Hammond,Francois Gros-Louis, Michael Gold,Yungki Park,Geneviève Bernard,Raili Raininko, Jian Zhou,Sarah J Hainer,Quasar S Padiath
bioRxiv : the preprint server for biology (2023)
British Paediatric Neurology Association (2022)
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作者统计
#Papers: 40
#Citation: 442
H-Index: 10
G-Index: 17
Sociability: 6
Diversity: 2
Activity: 32
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