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

Investigating Neurometabolite Changes in Response to Median Nerve Stimulation

研究正中神经刺激引起的神经代谢物变化

Houlgreave, Mairi S; Dyke, Katherine; Berrington, Adam; Jackson, Stephen R

An Investigation of an Outbreak of Salmonella Newport Infections Linked to Melons from Southwest Indiana-United States, 2023

2023年美国印第安纳州西南部甜瓜引发的沙门氏菌纽波特感染疫情调查

Cataldo, Natalie; Schwensohn, Colin; Kirchner, Margaret; Jenkins, Erin; Jemaneh, Temesgen; Seelman, Sharon; Dey, Manashi; Hamblin, Casey; Brillhart, Darcy; Goodman, Alex; Nolte, Kurt; Baker, Adam; Jackson, Tim; Literman, Bob; Bell, Rebecca L; Hawkins, Tracy; Gieraltowski, Laura; Salter, Monique; Viazis, Stelios

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX基因变异与一种X连锁神经发育障碍相关,该障碍伴有复发性面部畸形。

James L Shepherdson,Katie Hutchison,Dilan Wellalage Don,George McGillivray,Tae-Ik Choi,Carolyn A Allan,David J Amor,Siddharth Banka,Donald G Basel,Laura D Buch,Deanna Alexis Carere,Renée Carroll,Jill Clayton-Smith,Ali Crawford,Morten Dunø,Laurence Faivre,Christopher P Gilfillan,Nina B Gold,Karen W Gripp,Emma Hobson,Alexander M Holtz,A Micheil Innes,Bertrand Isidor,Adam Jackson,Panagiotis Katsonis,Leila Amel Riazat Kesh

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

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

CRELD1双等位基因变异会导致多系统综合征,包括神经发育表型、心律失常和频繁感染。

Lauren Jeffries ,Emily K Mis ,Kirsty McWalter ,Sandra Donkervoort ,Nina N Brodsky ,Jean-Marie Carpier ,Weizhen Ji ,Cristian Ionita ,Bhaskar Roy ,Jon S Morrow ,Armine Darbinyan ,Krishna Iyer ,Ritu B Aul ,Siddharth Banka ,Katherine R Chao ,Laura Cobbold ,Stacey Cohen ,Helena M Custodio ,Margaret Drummond-Borg ,Frances Elmslie ,Erika Finanger ,Bryan E Hainline ,Ingo Helbig ,Stacy Hewson ,Ying Hu ,Adam Jackson ,Dragana Josifova ,Monica Konstantino ,Meganne E Leach ,Bryan Mak ,David McCormick ,Elisabeth McGee ,Stanley Nelson ,Joanne Nguyen ,Kimberly Nugent ,Lucy Ortega ,Howard P Goodkin ,Elizabeth Roeder ,Sani Roy ,Katie Sapp ,Dimah Saade ,Sanjay M Sisodiya ,Karen Stals ,Shelley Towner ,William Wilson ,Carsten G Bönnemann ,Carrie L Lucas ,Saquib A Lakhani

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

ERI1 的无效突变和错义突变导致人类出现隐性表型二分法

Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-Min Zhang, Zhen-Jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Mo

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

罕见的 EIF4A2 变异与以智力障碍、肌张力低下和癫痫为特征的神经发育障碍有关

Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B Haac

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

TSPEAR 相关常染色体隐性外胚层发育不良 14 的临床、遗传、流行病学、进化和功能描述

Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, Kate E Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou; Genomics England R

A roadmap for serum biomarkers for hepatitis B virus: current status and future outlook

乙型肝炎病毒血清生物标志物发展路线图:现状与展望

Kramvis, Anna; Chang, Kyong-Mi; Dandri, Maura; Farci, Patrizia; Glebe, Dieter; Hu, Jianming; Janssen, Harry L A; Lau, Daryl T Y; Penicaud, Capucine; Pollicino, Teresa; Testoni, Barbara; Van Bömmel, Florian; Andrisani, Ourania; Beumont-Mauviel, Maria; Block, Timothy M; Chan, Henry L Y; Cloherty, Gavin A; Delaney, William E; Geretti, Anna Maria; Gehring, Adam; Jackson, Kathy; Lenz, Oliver; Maini, Mala K; Miller, Veronica; Protzer, Ulrike; Yang, Jenny C; Yuen, Man-Fung; Zoulim, Fabien; Revill, Peter A