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

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

一项基于人群的先天性巨细胞病毒筛查计划的结果

Dunn, Jessica K E; Chakraborty, Pranesh; Reuvers, Emily; Gallagher, Lauren; Kernohan, Kristin D; Lacaria, Melanie; Barton, Michelle; Leifso, Kirk; Pernica, Jeffrey M; Santander, Emeril; Pigeon, Marie; Cushing, Sharon L; MacCormick, Johnna; Gantt, Soren; Weber, Stacey; Bitnun, Ari; Brophy, Jason

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

关键染色质修饰因子WDR5中杂合错义变异的聚集定义了一种新的神经发育障碍

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

MTSS2基因中反复出现的从头突变c.2011C>T错义变异会导致综合征型智力障碍。

Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

加拿大罕见病关怀组织:十年罕见病基因发现网络科学成果

Boycott, Kym M; Hartley, Taila; Kernohan, Kristin D; Dyment, David A; Howley, Heather; Innes, A Micheil; Bernier, Francois P; Brudno, Michael

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Genomics4RD:一个用于共享加拿大深度表型和多组学数据以促进国际罕见病基因发现的综合平台

Driver, Hannah G; Hartley, Taila; Price, E Magda; Turinsky, Andrei L; Buske, Orion J; Osmond, Matthew; Ramani, Arun K; Kirby, Emily; Kernohan, Kristin D; Couse, Madeline; Elrick, Hillary; Lu, Kevin; Mashouri, Pouria; Mohan, Aarthi; So, Delvin; Klamann, Conor; Le, Hannah G B H; Herscovich, Andrea; Marshall, Christian R; Statia, Andrew; Canada Consortium, Care Rare; Knoppers, Bartha M; Brudno, Michael; Boycott, Kym M

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

由新生单等位基因DDB1变异引起的DNA修复障碍与神经发育综合征相关。

White, Susan M; Bhoj, Elizabeth; Nellåker, Christoffer; Lachmeijer, Augusta M A; Marshall, Aren E; Boycott, Kym M; Li, Dong; Smith, Wendy; Hartley, Taila; McBride, Arran; Ernst, Michelle E; May, Alison S; Wieczorek, Dagmar; Abou Jamra, Rami; Koch-Hogrebe, Margarete; Õunap, Katrin; Pajusalu, Sander; van Gassen, K L I; Sadedin, Simon; Ellingwood, Sara; Tan, Tiong Yang; Christodoulou, John; Barea, Jaime; Lockhart, Paul J; Nezarati, Marjan M; Kernohan, Kristin D

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

ABHD16A 缺陷会导致一种复杂的遗传性痉挛性截瘫,并伴有智力障碍和脑部异常。

Lemire, Gabrielle; Ito, Yoko A; Marshall, Aren E; Chrestian, Nicolas; Stanley, Valentina; Brady, Lauren; Tarnopolsky, Mark; Curry, Cynthia J; Hartley, Taila; Mears, Wendy; Derksen, Alexa; Rioux, Nadie; Laflamme, Nataly; Hutchison, Harrol T; Pais, Lynn S; Zaki, Maha S; Sultan, Tipu; Dane, Adrie D; Gleeson, Joseph G; Vaz, Frédéric M; Kernohan, Kristin D; Bernard, Geneviève; Boycott, Kym M

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

Allgrove(三A)综合征的神经生理特征:病例报告及文献综述

Weiman, Daniel I; Gillespie, Meredith K; Hartley, Taila; Osmond, Matthew; Ito, Yoko; Boycott, Kym M; Kernohan, Kristin D; Lines, Matthew; McMillan, Hugh J

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

ATAD3A基因的剪接变异扩大了Harel-Yoon综合征的临床和遗传谱。

Hanes, Ilana; McMillan, Hugh J; Ito, Yoko; Kernohan, Kristin D; Lazier, Joanna; Lines, Matthew A; Dyment, David A

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

利用血液转录组测序和大型对照队列鉴定罕见病基因

Frésard, Laure; Smail, Craig; Ferraro, Nicole M; Teran, Nicole A; Li, Xin; Smith, Kevin S; Bonner, Devon; Kernohan, Kristin D; Marwaha, Shruti; Zappala, Zachary; Balliu, Brunilda; Davis, Joe R; Liu, Boxiang; Prybol, Cameron J; Kohler, Jennefer N; Zastrow, Diane B; Reuter, Chloe M; Fisk, Dianna G; Grove, Megan E; Davidson, Jean M; Hartley, Taila; Joshi, Ruchi; Strober, Benjamin J; Utiramerur, Sowmithri; Lind, Lars; Ingelsson, Erik; Battle, Alexis; Bejerano, Gill; Bernstein, Jonathan A; Ashley, Euan A; Boycott, Kym M; Merker, Jason D; Wheeler, Matthew T; Montgomery, Stephen B