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

The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia

基因测序在慢性免疫性血小板减少症诊断中的作用

Joshi, Nehal; Lango-Allen, Hana; Downes, Kate; Simeoni, Ilenia; Vladescu, Camelia; Paul, Deena; Hart, Alice; Ademokun, Christine; Cooper, Nichola

Practical challenges for functional validation of STAT1 gain of function genetic variants

STAT1功能获得性基因变异功能验证面临的实际挑战

Albuquerque, Adriana S; Maimaris, Jesmeen; McKenna, Alexander J; Lambourne, Jonathan; Moreira, Fernando; Workman, Sarita; Megy, Karyn; Simeoni, Ilenia; Lango Allen, Hana; Morris, Emma C; Burns, Siobhan O

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

巨叶性贫血、婴儿白血病和免疫缺陷是由DHFR基因中一种新的纯合突变引起的。

Kuijpers, Taco W; de Vries, Andrica C H; van Leeuwen, Ester M; Ermens, A Ton A M; de Pont, Saskia; Smith, Desirée E C; Wamelink, Mirjam M C; Mensenkamp, Arjen R; Nelen, Marcel R; Lango Allen, Hana; Pals, Steven T; Beverloo, Berna H B; Huidekoper, Hidde H; Wagner, Anja

Whole-genome sequencing of patients with rare diseases in a national health system

国家卫生系统中罕见病患者的全基因组测序

Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V V Deevi, Timothy J Aitman, David L Bennett, 

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

散发性原发性免疫缺陷人群的全基因组测序

James E D Thaventhiran #, Hana Lango Allen #, Oliver S Burren #, William Rae #, Daniel Greene, Emily Staples, Zinan Zhang, James H R Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J Penkett, Jonathan Stephens, Sri V V Deevi, Alba Sanchis-Juan, Nicholas S Gleadall, Moira J T

Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans

人类树突状细胞发育过程中,IRF8转录因子需求存在差异,这定义了两种不同的发育途径。

Urszula Cytlak,Anastasia Resteu,Sarah Pagan,Kile Green,Paul Milne,Sheetal Maisuria,David McDonald,Gillian Hulme,Andrew Filby,Benjamin Carpenter,Rachel Queen,Sophie Hambleton,Rosie Hague,Hana Lango Allen,James E D Thaventhiran,Gina Doody,Matthew Collin,Venetia Bigley

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

白细胞介素 6 受体缺失导致免疫缺陷、特应性及异常炎症反应

Sarah Spencer #, Sevgi Köstel Bal #, William Egner #, Hana Lango Allen #, Syed I Raza #, Chi A Ma #, Meltem Gürel #, Yuan Zhang #, Guangping Sun #, Ruth A Sabroe, Daniel Greene, William Rae, Tala Shahin, Katarzyna Kania, Rico Chandra Ardy, Marini Thian, Emily Staples, Annika Pecchia-Bekkum, William

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

特定的CNOT1基因突变会导致一种新的综合征,该综合征通过损害胰腺和神经发育而表现为胰腺发育不全和前脑无裂畸形。

De Franco, Elisa; Watson, Rachel A; Weninger, Wolfgang J; Wong, Chi C; Flanagan, Sarah E; Caswell, Richard; Green, Angela; Tudor, Catherine; Lelliott, Christopher J; Geyer, Stefan H; Maurer-Gesek, Barbara; Reissig, Lukas F; Lango Allen, Hana; Caliebe, Almuth; Siebert, Reiner; Holterhus, Paul Martin; Deeb, Asma; Prin, Fabrice; Hilbrands, Robert; Heimberg, Harry; Ellard, Sian; Hattersley, Andrew T; Barroso, Inês

Predicting the Occurrence of Variants in RAG1 and RAG2

预测 RAG1 和 RAG2 基因变异的发生

Lawless, Dylan; Lango Allen, Hana; Thaventhiran, James; Hodel, Flavia; Anwar, Rashida; Fellay, Jacques; Walter, Jolan E; Savic, Sinisa

Copy number variation of LINGO1 in familial dystonic tremor

家族性肌张力障碍性震颤中LINGO1的拷贝数变异

Alakbarzade, Vafa; Iype, Thomas; Chioza, Barry A; Singh, Royana; Harlalka, Gaurav V; Hardy, Holly; Sreekantan-Nair, Ajith; Proukakis, Christos; Peall, Kathryn; Clark, Lorraine N; Caswell, Richard; Lango Allen, Hana; Wakeling, Matthew; Chilton, John K; Baple, Emma L; Louis, Elan D; Warner, Thomas T; Crosby, Andrew H