日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Defining an approach to empower clinical geneticists to do genomic reanalysis

制定一种方法,使临床遗传学家能够进行基因组再分析

Segal, Michael M; McEntagart, Meriel; Deng, Alexander T; Haworth, Andrea; King, Brian; Rogers, Anthony; Filby, John; Short, John; Hash, Mary Grace; Rives, Lynette C; Ezell, Kimberly M; Phillips, John A 3rd

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project

“我对我们处理这件事的方式感到非常自豪”:卫生专业人员分享从“十万基因组计划”中获得额外发现的经验

Stafford-Smith, Bethany; Gurasashvili, Jana; Peter, Michelle; Daniel, Morgan; Balasubramanian, Meena; Bownass, Lucy; Brennan, Paul; Cleaver, Ruth; Clowes, Virginia; Costello, Philandra; DeSouza, Bianca; Dubois, Louise; Harrison, Rachel; Hawkes, Lara; Jones, Elizabeth A; Kraus, Alison; McEntagart, Meriel; Somarathi, Suresh; Taylor, Amy; Tripathi, Vishakha; Chitty, Lyn S; Hill, Melissa

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome

对患有科内莉亚·德·兰格综合征的“突变阴性”个体进行全基因组测序

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L; D'Souza, Elston N; Barnett, Christopher; Wilkie, Andrew O M; Barnicoat, Angela; Patel, Chirag V; Sukarova-Angelovska, Elena; Girisha, Katta M; Firth, Helen V; Prescott, Katrina; Wilson, Louise C; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T; Lam, Wayne K; Sisodiya, Sanjay M; Green, Andrew J; Poke, Gemma; Whiffin, Nicola; FitzPatrick, David R; Meynert, Alison

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

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  0 ,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  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

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

由PMPCB基因中一种新的剪接变异引起的Leigh综合征,伴有发育倒退和共济失调。

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

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

SPTAN1单等位基因变异相关疾病不断扩展:从癫痫性脑病到纯痉挛性截瘫和共济失调

Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A; Nizon, Mathilde; Cogne, Benjamin; Jamra, Rami Abu; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonnière, Roger; Magry, Virginie; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Melegh, Béla; Szabó, András; Sümegi, Katalin; Cossée, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

扩展赖氨酸特异性去甲基化酶 5C (KDM5C) 的遗传学和表型谱:13 个新变体的报告

Leonardi, Emanuela; Aspromonte, Maria Cristina; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; McEntagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzońca-Niewczas, Sylwia; Miano, Maria Giuseppina; Murgia, Alessandra

The everolimus eluting Synergy Megatron(TM) drug-eluting stent platform: Early outcomes from the European Synergy Megatron(TM) Implanters' Registry

依维莫司洗脱 Synergy Megatron(TM) 药物洗脱支架平台:欧洲 Synergy Megatron(TM) 植入者注册研究的早期结果

De Silva, Kalpa; Li Kam Wa, Matthew E; Wells, Tim; Mozid, Abdul; Ladwiniec, Andrew; Hynes, Brian G; Kotecha, Ashish; Ratib, Karim; Biswas, Sinjini; Amabile, Nicolas; Deharo, Pierre; McEntagart, Margaret; Spratt, James C; Digne, Franck; Hogg, Meadhbh; Mailey, Jonathan A; Walsh, Simon J; Kalra, Sundeep S