Meriel Mcentagart - Institute of Medical Genetics, University Hospital of Wales

基本信息

浏览量：59

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 122 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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

MOVEMENT DISORDERS（2024）

引用0浏览0WOS引用

Biallelic NAA60 Variants with Impaired N-terminal Acetylation Capacity Cause Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M. Natalia Zanetti,Rauan Kaiyrzhanov,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V. Schottlaender,Heba Morsy,Annarita Scardamaglia,Ambreen Tariq,Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella,Nina Glomnes,Kirsten M. Brønstad,Sandrine Tury, Andrés Moreno De Luca,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim,Benjamin Cretin,Barbara Vona, Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller,Sahar I. Da’as,Khalid A. Fakhro,Alicia Gómez-Pascual,Juan A. Botía,Nicholas W. Wood,Rita Horvath,Andreas M. Ernst,James E. Rothman,Meriel McEntagart,Yanick J. Crow,Fowzan S. Alkuraya,Gaël Nicolas,Henry Houlden,Thomas Arnesen

NATURE COMMUNICATIONSno. 1 (2024)

引用0浏览0WOSNATURE引用

The Impact of Inversions Across 33,924 Families with Rare Disease from a National Genome Sequencing Project

Alistair T. Pagnamenta,Jing Yu,Susan Walker,Alexandra J. Noble,Jenny Lord, Prasun Dutta,Mona Hashim,Carme Camps, Hannah Green, Smrithi Devaiah,Lina Nashef, Jason Parr,Carl Fratter, Rana Ibnouf Hussein,Sarah J. Lindsay, Fiona Lalloo,Benito Banos-Pinero,David Evans, Lucy Mallin, Adrian Waite,Julie Evans, Andrew Newman, Zoe Allen, Cristina Perez-Becerril,Gavin Ryan,Rachel Hart,John Taylor,Tina Bedenham,Emma Clement,Ed Blair,Eleanor Hay,Francesca Forzano,Jenny Higgs,Natalie Canham,Anirban Majumdar,Meriel Mcentagart,Nayana Lahiri,Helen Stewart,Sarah Smithson,Eduardo Calpena, Adam Jackson,Siddharth Banka,Hannah Titheradge,Ruth Mcgowan,Julia Rankin,Charles Shaw-Smith,D. Gareth Evans,George J. Burghel,Miriam J. Smith,Emily Anderson,Rajesh Madhu,Helen Firth,Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin,Mark T. Rogers,Jackie A. Cook,Miranda Durkie,James E. East,Darren Fowler,Louise Wilson,Rebecca Igbokwe,Alice Gardham,Ian Tomlinson,Diana Baralle,Holm H. Uhlig,Jenny C. Taylor

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1140-1164

引用0浏览0WOS引用

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

Emma Matthews,Ella F. Whittle,Faraan Khan,Meriel McEntagart,Christopher J. Carroll

Journal of Human Genetics（2024）

引用0浏览0WOSNATURE引用

The impact of germline inversions in the rare-disease arm of the 100,000 Genomes Project

Jing Yu,Alistair Pagnamenta,Susan Walker,Benito Banos-Pinero, Mark Rogers,Jackie Cook,Mohamed Wafik, Ellie Hay,Detlef Bockenhauer,Adam Jackson,Emma Clement,Louise Wilson, Paul Brennan,Nayana Lahiri,Meriel McEntagart,Anirban Majumdar, Smrithi Devaiah,Peter Risby,Fleur Van Dijk,Siddharth Banka,Ed Blair,Andrew Wilkie,Sarju Mehta,Kassim Javaid,Sarah Smithson,Jenny Taylor

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 56-57

引用0浏览0引用

Expanding SPTAN1 Monoallelic Variant Associated Disorders: from Epileptic Encephalopathy to Pure Spastic Paraplegia and Ataxia

Genetics in medicine（2023）

引用2浏览0WOS引用

Re-analysis of exome sequencing data of undiagnosed epilepsy cases

Natalie Trump,Andrea Haworth,John Filby, Anthony Rogers, Charles Steward, Sandro Morganella, Laura Ponting,Meriel McEntagart,Frances Elmslie

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 188-188

引用0浏览0引用

Impaired Nt-acetylation and the Golgi, a new disease mechanism leading to autosomal recessive primary familial brain calcifications

V. Chelban,H. Aksnes, L. LaMonica,R. Maroofian, L. Seabra,P. Devic,J. Vandrovcova, D. Murphy, A. Pagnamenta,N. Wood,R. Horvath, A. Ernst,J. Rothman,M. McEntagart,Y. Crow, G. Nicolas,T. Arnesen,H. Houlden

MOVEMENT DISORDERS (2023): S503-S503

引用0浏览0引用

Altered Nt-acetylation Processes, a New Disease-Mechanism for Autosomal Recessive Primary Familial Brain Calcifications

V. Chelban,H. Aksnes, L. LaMonica, L. Seabra,P. Devic,R. Maroofian,J. Vandrovcova, D. Murphy,S. Efthymiou, A. Pagnamenta, A. Pennavaria, L. Krogstad, K. Bronstad,N. Glomnes,J. Battini,N. Wood,R. Horvath, A. Ernst,J. Rothman,M. McEntagart,Y. Crow, G. Nicolas,T. Arnesen,H. Houlden

EUROPEAN JOURNAL OF NEUROLOGY (2023): 63-64

引用0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