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

The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes

T385M STAT1 功能获得性突变会导致最严重的疾病后果。

Torrance, Robert; McKenna, Alexander J; King, Catherine; McDowell, Joe; O'Callaghan, Eleanor; Maimaris, Jesmeen; Albuquerque, Adriana S; Pearce, Rachel; Morris, Emma C; Burns, Siobhan O

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations

脑活检和宏基因组学在先天性免疫缺陷(IEI)和不明原因神经系统表现患者决策中的安全性和诊断效用

Maimaris, Jesmeen; Payne, Julia; Roa-Bautista, Adriel; Breuer, Judith; Storey, Nathaniel; Morfopoulou, Sofia; Bamford, Alasdair; D'Arco, Felice; Gilmour, Kimberly; Aquilina, Kristian; Hassell, Jane; Hacohen, Yael; Silva, Adikarige H D; Merve, Ashirwad; Jacques, Thomas S; Rao, Kanchan; Chiesa, Robert; Amrolia, Persis; Silva, Juliana; Braggins, Helen; Xu-Bayford, Jinhua; Goldblatt, David; Worth, Austen; Booth, Claire; Ip, Winnie; Qasim, Waseem; Kusters, Maaike; Kaliakatsos, Marios; Brown, Julianne R; Elfeky, Reem

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency

格里塞利综合征2型:对149例新发和既往报道的RAB27A缺陷患者的综合分析

Maimaris, Jesmeen; Roa-Bautista, Adriel; Sohail, Mahreen; Booth, Claire; Cugno, Chiara; Chenchara, Lenka; Omran, Tawfeg Ben; Hacohen, Yael; Lim, Ming; Gilmour, Kimberly; Griffiths, Gillian; Rao, Kanchan; Elfeky, Reem; Kusters, Maaike

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

人类生殖系杂合获得功能 STAT6 变异导致严重过敏性疾病

Mehul Sharma #, Daniel Leung #, Mana Momenilandi #, Lauren C W Jones #, Lucia Pacillo #, Alyssa E James #, Jill R Murrell #, Selket Delafontaine #, Jesmeen Maimaris #, Maryam Vaseghi-Shanjani #, Kate L Del Bel #, Henry Y Lu #, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di

Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency

新冠疫情期间免疫球蛋白替代疗法:对抗体缺乏患者的实际和心理影响

Maimaris, Jesmeen; O'Sullivan, Anjel; Underhill, Isabella; Green, Ghiselle; Symes, Andrew; Lowe, David; Burns, Siobhan; Campbell, Mari; Elfeky, Reem

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

Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity

双等位基因有害的生殖系SH2B3变异会导致一种新的骨髓增生和多器官自身免疫综合征。

Blombery, Piers; Pazhakh, Vahid; Albuquerque, Adriana S; Maimaris, Jesmeen; Tu, Lingge; Briones Miranda, Brenda; Evans, Florence; Thompson, Ella R; Carpenter, Ben; Proctor, Ian; Curtin, Julie A; Lambert, Jonathan; Burns, Siobhan O; Lieschke, Graham J

Improving Water Quality Index Prediction Using Regression Learning Models

利用回归学习模型改进水质指数预测

Mohd Zebaral Hoque, Jesmeen; Ab Aziz, Nor Azlina; Alelyani, Salem; Mohana, Mohamed; Hosain, Maruf

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

Thymus transplantation for complete DiGeorge syndrome: European experience

胸腺移植治疗完全性 DiGeorge 综合征:欧洲经验

E Graham Davies, Melissa Cheung, Kimberly Gilmour, Jesmeen Maimaris, Joe Curry, Anna Furmanski, Neil Sebire, Neil Halliday, Konstantinos Mengrelis, Stuart Adams, Jolanta Bernatoniene, Ronald Bremner, Michael Browning, Blythe Devlin, Hans Christian Erichsen, H Bobby Gaspar, Lizzie Hutchison, Winnie I