Jenkinson Emma

基本信息

浏览量：18

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 29 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Biallelic Variants Indap3result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Intrinsic and Extrinsic Apoptosis and a Perrault Syndrome-Spectrum Phenotype

Thomas B Smith,Robert Kopajtich,Leigh A M Demain,Alessandro Rea,Huw B Thomas, Manuel Schiff, Christian Beetz,Shelagh Joss, Gerard S Conway,Anju Shukla, Mayuri Yeole,Periyasamy Radhakrishnan,Hatem Azzouz,Amel Ben Chehida, Monique Elmaleh-Bergès,Ruth I C Glasgow, Kyle Thompson,Monika Oláhová,Langping He,Emma M Jenkinson,Amir Jahic,Inna A Belyantseva,Melanie Barzik,Jill E Urquhart,James O' Sullivan,Simon G Williams,Sanjeev S Bhaskar,Samantha Carrera,Alexander J M Blakes,Siddharth Banka, Wyatt W Yue,Jamie M Ellingford,Henry Houlden,DDD Study, Kevin J Munro, Thomas B Friedman,Robert W Taylor, Holger Prokisch,Raymond T O'Keefe,William G Newman

medRxiv the preprint server for health sciences (2024)

引用0浏览0WOS引用

Biallelic Variants in DAP3, Encoding the Mitochondrial Ribosomal Protein MRPS29, Cause a Perrault Syndrome Spectrum Phenotype

Thomas Smith,Leigh Demain,Robert Kopajtich,Alessandro Rea,Manuel Schiff, Christian Beetz,Huw Thomas,Shelagh Joss, Gerard Conway,Kyle Thompson,Monika Olahova, Ruth Glasgow,Emma Jenkinson,Amir Jahic,Inna Belyantseva,Melanie Barzik,Jill Urquhart,James O'Sullivan,Wyatt Yue,Jamie Ellingford,Henry Houlden, Kevin Munro,Thomas Friedman,Robert Taylor,Holger Prokisch,Raymond O'Keefe,William Newman

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 21-21

引用0浏览0引用

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Yanick J. Crow,Heather Marshall,Gillian Rice,Luis Seabra,Emma M. Jenkinson,Kristin Baranano,Roberta Battini,Andrea Berger,Edward Blair,Thomas Blauwblomme,Francois Bolduc, Natalie Boddaert,Johannes Buckard,Heather Burnett,Sophie Calvert,Roseline Caumes,Andy Cheuk-Him Ng,Diana Chiang,David B. Clifford,Duccio M. Cordelli,Anna Burca,Natasha Demic,Isabelle Desguerre,Liesbeth De Waele,Alessio Di Fonzo,S. Richard Dunham,Sarah Dyack,Frances Elmslie,Mickael Ferrand, Gemma Fisher,Ehsan Ghayoor Karimiani,Jamal Ghoumid,Frances Gibbon,Himanshu Goel,Hilde T. Hilmarsen,Imelda Hughes,Anu Jacob,Elizabeth A. Jones,Ram Kumar,Richard J. Leventer,Shelley MacDonald,Reza Maroofian,Sarju G. Mehta,Imke Metz,Edoardo Monfrini, Daniela Neumann,Michael Noetzel,Mary O'Driscoll,Katrin Ounap,Axel Panzer,Sumit Parikh,Prab Prabhakar,Francis Ramond,Richard Sandford,Russell Saneto,Calvin Soh,Chloe A. Stutterd,Gopinath M. Subramanian,Kevin Talbot,Rhys H. Thomas,Camilo Toro,Renaud Touraine,Emma Wakeling,Evangeline Wassmer,Andrea Whitney,John H. Livingston,Raymond T. O'Keefe,Andrew P. Badrock

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2021）

引用14浏览0WOS引用

Bi-allelic Variants in the Mitochondrial RNase P Subunit PRORP Cause Mitochondrial Trna Processing Defects and Pleiotropic Multisystem Presentations

The American Journal of Human Genetics（2021）

引用18浏览0WOS引用

Analysis of U8 Snorna Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

Andrew P. Badrock,Carolina Uggenti,Ludivine Wacheul,Siobhan Crilly,Emma M. Jenkinson,Gillian Rice,Paul R. Kasher,Denis L. J. Lafontaine,Yanick J. Crow,Raymond T. O'Keefe

American journal of human genetics（2020）

引用16浏览0WOS引用

Novel intramolecular base-pairing of the U8 snoRNA underlies a Mendelian form of cerebral small vessel disease

Andrew P. Badrock,Carolina Uggenti,Ludivine Wacheul,Siobhan Crilly,Emma M. Jenkinson,Gillian I. Rice,Paul R. Kasher,Denis L.J. Lafontaine,Yanick J. Crow,Raymond T. O’Keefe

biorxiv（2020）

引用1浏览0引用

Expanding the Genotypic Spectrum of Perrault Syndrome

L. A. M. Demain,J. E. Urquhart,J. O'Sullivan,S. G. Williams,S. S. Bhaskar,E. M. Jenkinson,C. M. Lourenco, A. Heiberg,S. H. Pearce,S. A. Shalev, W. W. Yue,S. Mackinnon,K. J. Munro,R. Newbury-Ecob, K. Becker,M. J. Kim,R. T. O'Keefe,W. G. Newman

Clinical Genetics（2017）

引用69浏览0WOS引用

Mutations in SNORD118 Cause the Cerebral Microangiopathy Leukoencephalopathy with Calcifications and Cysts (vol 48, Pg 1185, 2016)

Emma Jenkinson,Mathieu P Rodero,Paul R. Kasher,Carolina Uggenti,Anthony Oojageer,Laurence Goosey, Y Rose,Christopher J. Kershaw,Jill E. Urquhart,Simon G. Williams,Sanjeev S. Bhaskar,James O’Sullivan,Gabriela M. Baerlocher,Monika Haubitz,Geraldine Aubert,Kristin W. Barañano,Angela Barnicoat,Roberta Battini,Andrea Berger,Edward Blair,Janice E. Brunstrom-Hernandez,Johannes Buckard,David Cassiman,Rosaline Caumes,Duccio Maria Cordelli,Liesbeth MH De Waele,Alexander Fay,Patrick Ferreira,Nicholas Fletcher,Alan Fryer,Himanshu Goel,Cheryl Hemingway,Marco Henneke,Imelda Hughes,R J Jefferson,Ram Kumar,Lieven Lagae,P. Landrieu,Charles Marques Lourenço, Timothy J. Malpas,Sarju Mehta,Imke Metz,Sakkubai Naidu,Katrin Õunap,Axel Panzer,Prab Prabhakar,Gerardine Quaghebeur,Raphael Schiffmann,Elliott H. Sherr,Kanaga R. Sinnathuray,Calvin Soh,Helen Stewart,John Stone,Hilde Van Esch,Christine E. G. van Mol,Adeline Vanderver,Emma Wakeling,Andrea Whitney,Graham D. Pavitt,Sam Griffiths‐Jones,Gillian I. Rice,Patrick Revy,Marjo S. van der Knaap,John H. Livingston,Raymond T. O’Keefe,Yanick J. Crow

Nature genetics（2017）

引用1浏览0引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn

讲师

论文共 29 篇作者统计合作学者相似作者