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K

Katherine Schon

University of Cambridge
H指数:19
被引数:4,269

个人简介

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教育背景

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工作经历

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荣誉奖项

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Survival and causes of death in primary mitochondrial diseases

原发性线粒体疾病的生存状况及死亡原因

Genome Medicine
IF11.2
2026-10-140
OAAI
Katherine R. Schon; Jeanette Aston; Peter Stilwell; Katrina Lavelle; John Broggio; Alison Maguire; Katie Waller; Kevin Colclough; Diane Cairns; Robert D. S. Pitceathly; Cathy E. Woodward; Michael G. Hanna; Carl Fratter; Philip Hodson; Conrad Smith; Rita Horvath; Mary Bythell; Steven A. Hardy; Patrick F. Chinnery
Effects of nicotinamide riboside in mitochondrial DNA disease

烟酰胺核苷在线粒体DNA疾病中的效果

Genome Medicine
IF11.2
2026-09-150
OAAI
Katherine R. Schon; Alison Sleigh; Zoe Golder; Alessandro Berghella; May Yung Tiet; Camilla Lyons; Lyuba V. Bozhilova; Yu Nie; Emma Harrison; Chloe Seikus; Patrick Yu-Wai-Man; Annelies Quaegebeur; Andreas Roos; Andreas Hentschel; Heather Biggs; Massimo Zeviani; Carlo Viscomi; Jelle van den Ameele; Rita Horvath; Patrick F. Chinnery
Charting the Phenotypic Landscape of Mitochondrial Diseases through a Systematic Evaluation of Pathogenic Mitochondrial DNA and Nuclear Gene Variants

通过系统评估致病线粒体DNA和核基因变异来绘制线粒体疾病的表型景观

Genetics in Medicine
IF6.2
2025-10-240
OAAI
Thiloka Ratnaike; Siddharth Ramanan; Nour Elkhateeb; Ramya Narayanan; Jenny Yang; Eszter Sara Arany; Manya Mirchandani; Rachael Piper; Katherine Schon; M.Eren Kule; Christopher Gilmartin; Angela Lochmüller; Emogene Shaw; Rita Horváth; Patrick F. Chinnery
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

一种少突胶质细胞沉默子元件构成了层粘连蛋白B1结构变异的致病性影响

NATURE COMMUNICATIONS
IF15.7
2025-02-051
OA
Nmezi, Bruce; Bey, Guillermo Rodriguez; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M.; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F.; Sousa, Sergio B.; Palavra, Filipe; Toro, Camilo; Pinto e Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S.; Bernard, Genevieve; Raininko, Raili; Zhou, Jian; Hainer, Sarah J.; Padiath, Quasar S.
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

ATM杂合性胚系致病性变异个体的管理：美国医学遗传学与基因组学学院（ACMG）的临床实践资源

GENETICS IN MEDICINE
IF6.2
2025-01-011
PRE
Pal, Tuya; Schon, Katherine R.; Astiazaran-Symonds, Esteban; Balman, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Livinski, Alicia A.; Mak, Julie S.; Ngeow, Joanne; Voian, Nicoleta; Wick, Myra J.; Hanson, Helen; Stewart, Douglas R.; Tischkowitz, Marc
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

用于分析种系ATM序列变体的ACMG/AMP变体管理指南的规范

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-010
OAAI
Richardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J.
Neuromuscular disease genetics in under-represented populations: increasing data diversity
BRAIN
IF11.7
2023-07-308
OAAI
Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
BRAIN
IF11.7
2021-11-1718
OAAI
Kurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
BMJ-BRITISH MEDICAL JOURNAL
IF42.7
2021-11-0341
OAAI
Schon, Katherine R.; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibanez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D. S.; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Clement, Emma; Ashton, Emma; Sayer, John A.; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J.; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F.; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F.
A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (vol 15, 206, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-03-220
OAAI
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele

研究方向

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P
Patrick F. Chinnery
H 指数:128论文数:941被引数:6.3万
R
Rita Horváth
H 指数:79论文数:637被引数:2.1万
T
Thiloka Ratnaike
H 指数:11论文数:40被引数:763
M
Marc Tischkowitz
H 指数:89论文数:516被引数:3.4万
L
Leslie Matalonga
H 指数:21论文数:83被引数:1,296
H
Hanns Lochmüller
H 指数:100论文数:1,569被引数:3.8万
J
Jelle van den Ameele
H 指数:19论文数:72被引数:2,657
S
Steven Laurie
H 指数:19论文数:97被引数:1,419
A
Angela Lochmüller
H 指数:5论文数:9被引数:102
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万