logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
S

Stephen W. Scherer

University of Toronto
H指数:161
被引数:12.0万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

A microexon regulatory code reveals autism-linked genetic variation

微外显子调控密码揭示了与自闭症相关的遗传变异

Nature
IF48.5
2026-10-140
OAAI
Guillermo E. Parada; Hannes Bretschneider; Jack Daiyang Li; Jacob L. Fine; Steven J. Dupas; Jonathan D. Ellis; Ulrich Braunschweig; Sophie Bonnal; Taykhoom Dalal; Worrawat Engchuan; Mehdi Zarrei; Wei Wei; Nadia Zafar; Martin Hemberg; Liliana Attisano; James Ellis; Manuel Irimia; Michael Wainberg; Brett Trost; Stephen W. Scherer; Quaid D. Morris; Benjamin J. Blencowe
Contribution of copy number variants to schizophrenia in East Asian populations

东亚人群中拷贝数变异对精神分裂症的贡献

Nature Genetics
IF29
2026-09-110
OAAI
Yu Chen; Qidi Feng; Max Lam; Mingrui Yu; Yaoyao Sun; Cong Huai; Bimal Jana; Jack Fu; Calwing Liao; Robert Ye; Soyeon Kim; Justin D. Tubbs; Omar Shanta; Bhooma Thiruvahindrapuram; Yawen Jen; Guorui Zhao; Jess Wang; Juan Xu; Wenzhao Shi; Stephen W. Scherer; Feng Zhu; Chih-Min Liu; Zhenglin Guo; Daniel Howrigan; Mark Daly; Benjamin M. Neale; Akira Sawa; Jonathan Sebat; Michael E. Talkowski; Jinsong Tang; Xiancang Ma; Wei J. Chen; Shengying Qin; Weihua Yue; Tian Ge; Hailiang Huang
Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders

神经发育障碍中，Neurabin I单倍剂量不足扰乱离子通道调控和人类皮层神经元的突触成熟

Molecular Psychiatry
IF10.1
2026-08-150
OA
Binte Zehra; Nesrin Mohamed; Richa Tambi; Muhammad Faizan; Dharana Satsangi; Alexander D. Giddey; Gilles Bru-Mercier; Ahmad Farhat; Nesreen K. Al-Jezawi; Muhammad Kumail; Nasna Nassir; Bipin Balan; Noor Kosaji; Mariam Eldesouky; Talal Al Yazeedi; Shuhd BinEshaq; Suhana Shiyas; Nidhina Vinod; Saif S. Alqassim; Awab Ahmed; Mohammad Amiruddin Hashmi; Nelson C. Soares; Marc Woodbury-Smith; Stefan S. Du Plessis; Dimitri J. Stavropoulos; Stephen W. Scherer; Alawi Alsheikh-Ali; Reem Khalil; Mauro Pessia; Maria Cristina D’Adamo; Bakhrom K. Berdiev; Mohammed Uddin
Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada’s national platform for genome sequencing and analysis

牛津纳米孔全基因组测序在加拿大基因组测序与分析国家平台上的胚系变异和CpG甲基化检测基准测试

Frontiers in Genetics
IF2.8
2026-08-120
OA
JH Jose Hector Galvez; SM Scott Mastromatteo; KO Kieran O’Neill; RE Robert Eveleigh; HD Haig Djambazian; BT Bhooma Thiruvahindrapuram; EC Eric Chuah; SC Shu-Huang Chen; AH Amirhossein Hajianpour; ZW Zhuozhi Wang; TA Tara A. Paton; SD Sachin Desai; SP Sanjeev Pullenayegum; LH Lan He; PP Pawan Pandoh; YZ Yongjun Zhao; KM Karen Mungall; AJ Andrew J. Mungall; RF Richard F. Wintle; GB Guillaume Bourque; SW Stephen W. Scherer; SJ Steven Jones; ML Mark Lathrop; MM Meredith McLaren; JR Jiannis Ragoussis
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain

Brain
IF11.7
2026-01-011
PRE
Murthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature

自闭症谱系障碍和智力障碍中UBR5功能丧失性变异：病例系列及文献综述

npj Genomic Medicine
IF4.8
2025-11-290
OAAI
Miriam S. Reuter; Nelson Bautista Salazar; Jennifer L. Howe; Ny Hoang; Ege Sarikaya; Thanuja Selvanayagam; Marla Mendes de Aquino; Astrid M. Vicente; Guiomar Oliveira; Christine M. Freitag; Bhooma Thiruvahindrapuram; Brett Trost; Stephen W. Scherer
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关的神经发育障碍的临床与分子谱

The American Journal of Human Genetics
IF0
2025-10-180
PRE
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
A roadmap for navigating child health research data sharing across Canada and beyond – building on UCAN CAN-DU

关于加拿大及更广泛地区儿童健康研究数据共享的路线图——基于UCAN CAN-DU构建

Pediatric Rheumatology
IF2.3
2025-10-020
OAAI
Brittany Gerber; Gillian R. Currie; Alexander Mosoiu; Alexander Bernier; Francois P. Bernier; Kym M. Boycott; Guillermo Fiebelkorn; Kristien Hens; Bartha M. Knoppers; Claire LeBlanc; Stephen W. Scherer; David Shaw; Chris Viney; Carl Virtanen; Susanne M. Benseler; Rae S. M. Yeung; Deborah A. Marshall
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes

人源iPSC来源的谷氨酸能神经元携带致病性KCNQ2变异体，表现出过度活跃的爆发性表型

Neurobiology of Disease
IF5.6
2025-09-250
OAAI
Maria Sundberg; Carole Shum; Erika Norabuena; Nina R. Makhortova; Cidi Chen; Lucy Yu; Emma V. Wightman; Kristina Kim; Sang Yeon Han; Jennifer Howe; Annapurna Poduri; Elizabeth D. Buttermore; Stephen W. Scherer; Mustafa Sahin
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

评估通过基因组测序预先评估的儿科队列中血液转录组谱的诊断影响

npj Genomic Medicine
IF4.8
2025-07-010
PREAI
Huayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D. Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53的遗传变异导致与Xp22.11基因座相关的自闭症谱系障碍

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-010
PRE
Scala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; Macdonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; Mcdonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni, V; Undiagnosed Dis Network, Undiagnosed Diseases; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.

研究方向

暂未获取到该数据
C
Christian R. Marshall
H 指数:76论文数:339被引数:3.6万
B
Bhooma Thiruvahindrapuram
H 指数:39论文数:176被引数:1.0万
S
Susan Walker
H 指数:45论文数:139被引数:1.0万
J
Jennifer Howe
H 指数:33论文数:169被引数:1.1万
D
Dalila Pinto
H 指数:62论文数:208被引数:3.6万
R
Ryan K. C. Yuen
H 指数:47论文数:159被引数:1.7万
D
Dimitri J. Stavropoulos
H 指数:43论文数:134被引数:9,980
D
Daniele Merico
H 指数:53论文数:185被引数:2.2万
A
Anath C. Lionel
H 指数:35论文数:101被引数:1.1万
B
Brett Trost
H 指数:32论文数:159被引数:3,742