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

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project

根据“十万基因组计划”中招募的“基因阴性”个体的全基因组测序结果,更新遗传性出血性毛细血管扩张症的诊断标准

Shovlin, Claire L; Almaghlouth, Fatma I; Alsafi, Ali; Coote, Nicola; Rennie, Catherine; Wallace, Gillian Mf; Govani, Fatima S; Research Consortium, Genomics England

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

深内含子变异导致具有可变枕角综合征表型的家族中 ATP7A 发生异常剪接

J Robert Harkness, Huw B Thomas, Jill E Urquhart, Peter Jamieson; Genomics England Research Consortium; Raymond T O'Keefe, Helen M Kingston, Charulata Deshpande, William G Newman

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

罕见先天性面部无力疾病患者的口腔健康相关生活质量

Liberton, Denise K; Almpani, Konstantinia; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; On Behalf Of The Moebius Syndrome Research Consortium; Webb, Bryn D; Jabs, Ethylin Wang; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini; Lee, Janice S

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

77,539 个基因组的遗传关联分析揭示了罕见疾病的病因

Daniel Greene; Genomics England Research Consortium; Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo

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

The genomic landscape of familial glioma

家族性胶质瘤的基因组图谱

Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy; Gliogene Consortium; Genomics England Research Consortium; Ma

Adiposity is associated with widespread transcriptional changes and downregulation of longevity pathways in aged skeletal muscle

肥胖与衰老骨骼肌中广泛的转录变化和长寿通路的下调有关

Mark A Burton, Elie Antoun, Emma S Garratt, Leo Westbury, Alica Baczynska, Elaine M Dennison, Nicholas C Harvey, Cyrus Cooper, Harnish P Patel, Keith M Godfrey, Karen A Lillycrop; EpiGen Global Research Consortium

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

TOP3A 的病理变异导致线粒体和核基因组稳定性明显紊乱

Direnis Erdinc #, Alejandro Rodríguez-Luis #, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous; Genomics England Research Consortium; Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlo

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

婴儿帕金森病-肌张力障碍中的 DRD1 功能丧失变异

Kimberley M Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E Mencacci, Katy Barwick, Maya Topf, Manju A Kurian

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

一名完全丧失 SPRY1(sprouty 同源物 1)功能的儿童出现颅缝早闭、内耳和肾脏异常

Rebecca S Tooze #, Eduardo Calpena #, Stephen R F Twigg, Felice D'Arco; Genomics England Research Consortium; Emma L Wakeling, Andrew O M Wilkie