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

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

使用全基因组测序专门检测前 T 细胞受体 α 免疫缺陷

Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W Scherer, Chaim M Roifman

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing

利用染色体微阵列和基于三联体的全外显子组测序对先天性心脏病患儿进行遗传学分析

Guo, Rui; Duan, Chunhong; Zarrei, Mehdi; Reuter, Miriam S; Dong, Rui; Zhang, Guangye; Yang, Xiaomeng; Zhang, Haiyang; Wang, Ying; Scherer, Stephen W; Liu, Yi; Gai, Zhongtao

Genetic overlap between idiopathic scoliosis and schizophrenia in the general population

普通人群中特发性脊柱侧弯与精神分裂症的遗传重叠

de Reuver, Steven; Engchuan, Worrawat; Safarian, Nickie; Zarrei, Mehdi; Vorstman, Jacob A S; Castelein, René M; Breetvelt, Elemi J

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

具有反社会人格障碍的极度冲动暴力男性中,受限的、脑特异性的和突触基因中罕见蛋白质截短变异的负担增加

Mušálková, Dita; Přistoupilová, Anna; Jedličková, Ivana; Hartmannová, Hana; Trešlová, Helena; Nosková, Lenka; Hodaňová, Kateřina; Bittmanová, Petra; Stránecký, Viktor; Jiřička, Václav; Langmajerová, Michaela; Woodbury-Smith, Marc; Zarrei, Mehdi; Trost, Brett; Scherer, Stephen W; Bleyer, Anthony J; Vevera, Jan; Kmoch, Stanislav

Three generation families: Analysis of de novo variants in autism

三代家庭:自闭症新生变异分析

Claudia I Samogy Costa #, Gabriele da Silva Campos #, Eduarda Morgana da Silva Montenegro #, Jaqueline Yu Ting Wang, Marília Scliar, Frederico Monfardini, Elaine Cristina Zachi, Naila C V Lourenço, Ada J S Chan, Sergio L Pereira, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Mehdi Zarrei, Stephen W

The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples

跨代家族和神经发育确诊样本中16p11.2远端BP2-BP3缺失的表型变异性

Woodbury-Smith, Marc; D'Abate, Lia; Stavropoulos, Dimitri J; Howe, Jennifer; Drmic, Irene; Hoang, Ny; Zarrei, Mehdi; Trost, Brett; Iaboni, Alana; Anagnostou, Evdokia; Scherer, Stephen W

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

SCIP:用于高效临床解读全基因组测序检测到的拷贝数变异的软件

Ding, Qiliang; Somerville, Cherith; Manshaei, Roozbeh; Trost, Brett; Reuter, Miriam S; Kalbfleisch, Kelsey; Stanley, Kaitlin; Okello, John B A; Hosseini, S Mohsen; Liston, Eriskay; Curtis, Meredith; Zarrei, Mehdi; Higginbotham, Edward J; Chan, Ada J S; Engchuan, Worrawat; Thiruvahindrapuram, Bhooma; Scherer, Stephen W; Kim, Raymond H; Jobling, Rebekah K

Gene copy number variation and pediatric mental health/neurodevelopment in a general population

基因拷贝数变异与普通人群儿童心理健康/神经发育的关系

Zarrei, Mehdi; Burton, Christie L; Engchuan, Worrawat; Higginbotham, Edward J; Wei, John; Shaikh, Sabah; Roslin, Nicole M; MacDonald, Jeffrey R; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R; Yuen, Ryan K C; Wintle, Richard F; Strug, Lisa J; Stavropoulos, Dimitri J; Vorstman, Jacob A S; Arnold, Paul; Merico, Daniele; Woodbury-Smith, Marc; Crosbie, Jennifer; Schachar, Russell J; Scherer, Stephen W

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons

DDX53 编码序列的破坏对 iPSC 衍生的人类 NGN2 神经元的影响有限

Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P Joel Ross, Clarrisa A Bradley, James Ellis, Stephen W Scherer

Genomic architecture of autism from comprehensive whole-genome sequence annotation

基于全基因组序列注释的自闭症基因组结构

Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J S; Engchuan, Worrawat; Higginbotham, Edward J; Howe, Jennifer L; Loureiro, Livia O; Reuter, Miriam S; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona; Aliyev, Elbay; Patel, Rohan V; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Hamdan, Omar; Kaur, Gaganjot; Wang, Zhuozhi; MacDonald, Jeffrey R; Wei, John; Sung, Wilson W L; Lamoureux, Sylvia; Hoang, Ny; Selvanayagam, Thanuja; Deflaux, Nicole; Geng, Melissa; Ghaffari, Siavash; Bates, John; Young, Edwin J; Ding, Qiliang; Shum, Carole; D'Abate, Lia; Bradley, Clarrisa A; Rutherford, Annabel; Aguda, Vernie; Apresto, Beverly; Chen, Nan; Desai, Sachin; Du, Xiaoyan; Fong, Matthew L Y; Pullenayegum, Sanjeev; Samler, Kozue; Wang, Ting; Ho, Karen; Paton, Tara; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Fuerth, Jonathan; Noppornpitak, Juti; Ward, Heather; Magee, Patrick; Al Baz, Ayman; Kajendirarajah, Usanthan; Kapadia, Sharvari; Vlasblom, Jim; Valluri, Monica; Green, Joseph; Seifer, Vicki; Quirbach, Morgan; Rennie, Olivia; Kelley, Elizabeth; Masjedi, Nina; Lord, Catherine; Szego, Michael J; Zawati, Ma'n H; Lang, Michael; Strug, Lisa J; Marshall, Christian R; Costain, Gregory; Calli, Kristina; Iaboni, Alana; Yusuf, Afiqah; Ambrozewicz, Patricia; Gallagher, Louise; Amaral, David G; Brian, Jessica; Elsabbagh, Mayada; Georgiades, Stelios; Messinger, Daniel S; Ozonoff, Sally; Sebat, Jonathan; Sjaarda, Calvin; Smith, Isabel M; Szatmari, Peter; Zwaigenbaum, Lonnie; Kushki, Azadeh; Frazier, Thomas W; Vorstman, Jacob A S; Fakhro, Khalid A; Fernandez, Bridget A; Lewis, M E Suzanne; Weksberg, Rosanna; Fiume, Marc; Yuen, Ryan K C; Anagnostou, Evdokia; Sondheimer, Neal; Glazer, David; Hartley, Dean M; Scherer, Stephen W