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

SDrecall: a sensitive approach for variant detection in segmental duplications

SDrecall:一种灵敏的片段重复序列变异检测方法

Yang, Xing Tian; She, Chun Hing; Zhang, CaiCai; Leung, Daniel; Yang, Jing; Chan, Koon-Wing; Duque, Jaime S Rosa; Lau, Yu Lung; Yang, Wanling

Four doses of coronavirus disease 2019 vaccination for patients with inborn errors of immunity compared to 3 doses for healthy individuals

先天性免疫缺陷患者需接种四剂新冠病毒疫苗,而健康人群只需接种三剂。

Chan, Jeffery C H; Cheng, Samuel M S; Leung, Daniel; Wang, Xiwei; Wang, Manni; Cheuk, Yin Celeste; Ho, Cyrus; Tsang, Leo C H; Kwan, Tsz Chun; Lee, Amos M T; Li, Wing Yan; Lam, Jennifer H Y; Zhang, Kaiyue; Tam, Issan Y S; Chan, Sau Man; Chan, Koon Wing; Peiris, Malik; Tu, Wenwei; Lau, Yu Lung; Rosa Duque, Jaime S

Detecting signatures underlying the composition of biological data

检测生物数据组成中的潜在特征

Duncan, Anthony; Koon, Wing; Sidorczuk, Katarzyna; Quince, Christopher; Frioux, Clémence; Hildebrand, Falk

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency

在阿尔及利亚一个患有 CD19 复合物缺陷的家族中,发现了一种新的纯合移码突变,该突变可能导致无义介导的 mRNA 降解。

Belaid, Brahim; Chan, Koon-Wing; Lamara Mahammed, Lydia; Leung, Daniel; Makhloufi, Sara; Bendaoud, Fadila; Sakhri, Hassiba; Berkani, Lilya Meriem; Allam, Ines; Merah, Fatma; Baaziz, Hadda; Lo, Bernice; Rosa Duque, Jaime Sou; Lau, Yu Lung; Djidjik, Reda

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype

病例报告:一名具有高IgE样表型的患者同时存在STAT1功能获得性突变和STAT3调控变异的双重分子诊断

Yaakoubi, Roukaya; Mekki, Najla; Ben Chehida, Amel; Benhammadi, Ansem; Chan, Koon-Wing; Leung, Daniel; Gharsallah, Charfeddine; Guerfali, Fatma Zahra; Barbouche, Mohamed-Ridha; Lau, Yu Lung; Ben-Ali, Meriem; Ben-Mustapha, Imen

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis

病例报告:两名中国兄妹携带STAT1转录激活结构域的新型从头生殖系功能缺失突变,其中哥哥表现为多灶性卡介苗骨髓炎。

Lim, Qin Ying; Leung, Daniel; Lam, Crystal K; Yang, Xingtian; Cheong, Kai N; Yik, Andrew K H; Yang, Jing; Chan, Koon-Wing; Lee, Pamela P W; Tsumura, Miyuki; Au, Elaine Y L; Rosa Duque, Jaime S; Okada, Satoshi; Lau, Yu Lung

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

11 例高 IgE 综合征患者的诊断挑战

Roukaya Yaakoubi, Najla Mekki, Imen Ben-Mustapha, Leila Ben-Khemis, Asma Bouaziz, Ilhem Ben Fraj, Jamel Ammar, Agnès Hamzaoui, Hamida Turki, Lobna Boussofara, Mohamed Denguezli, Samir Haddad, Monia Ouederni, Mohamed Bejaoui, Koon Wing Chan, Yu Lung Lau, Fethi Mellouli, Mohamed-Ridha Barbouche, Merie

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022

先天性免疫缺陷——斯里兰卡的经验(2010-2022)

Dasanayake, Dhanushka; Bustamante, Jacinta; Boisson-Dupuis, Stéphanie; Karunatilleke, Chandima; Thambyrajah, James; Puel, Anne; Chan, Koon Wing; Doffinger, Rainer; Lau, Yu-Lung; Casanova, Jean-Laurent; Kumararatne, Dinakantha; de Silva, Rajiva

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection

南非一个多重家族中发现一种罕见的突变,导致常染色体显性遗传的STAT1缺陷,该家族成员均患有播散性卡介苗感染。

Greybe, Leonore; Leung, Daniel; Wieselthaler, Nicole; le Roux, David M; Chan, Koon Wing; Lau, Yu Lung; Eley, Brian

Safety and immunogenicity of 3 doses of BNT162b2 and CoronaVac in children and adults with inborn errors of immunity

BNT162b2 和 CoronaVac 疫苗在患有先天性免疫缺陷的儿童和成人中的安全性和免疫原性(3 剂)。

Leung, Daniel; Mu, Xiaofeng; Duque, Jaime S Rosa; Cheng, Samuel M S; Wang, Manni; Zhang, Wenyue; Zhang, Yanmei; Tam, Issan Y S; Lee, Toby S S; Lam, Jennifer H Y; Chan, Sau Man; Cheang, Cheuk Hei; Chung, Yuet; Wong, Howard H W; Lee, Amos M T; Li, Wing Yan; Chaothai, Sara; Tsang, Leo C H; Chua, Gilbert T; Cheong, Kai-Ning; Au, Elaine Y L; Kwok, Janette S Y; Chan, Koon Wing; Chong, Patrick C Y; Lee, Pamela P W; Ho, Marco H K; Lee, Tsz Leung; Tu, Wenwei; Peiris, Malik; Lau, Yu Lung