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

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

一种生殖系杂合显性负性IKZF2变异导致综合征性原发性免疫调节障碍和ICHAD

Henry Y Lu ,Maryam Vaseghi-Shanjani ,Avery J Lam ,Mehul Sharma ,Arezoo Mohajeri ,Leandro B R Silva ,Jana Gillies ,Gui Xiang Yang ,Susan Lin ,Maggie P Fu ,Areesha Salman ,Ronak Rahmanian ,Linlea Armstrong ,Jessica Halparin ,Connie L Yang ,Mark Chilvers ,Erika Henkelman ,Wingfield Rehmus ,Douglas Morrison ,Audi Setiadi ,Sara Mostafavi ,Michael S Kobor ,Frederick K Kozak ,Catherine M Biggs ,Clara van Karnebeek ,Kyla J Hildebrand ,Stuart E Turvey

How does personal utility depend on clinical setting? Evidence from 3 cohorts

个人效用如何取决于临床环境?来自三个队列的证据

Poole, Elise; Luca, Stephanie; Assamad, Daniel; Xiao, Bowen; Yan, Joyce; Xia, Yue Yin; Abbott, Lesleigh S; Armstrong, Linlea; Birch, Patricia; Boycott, Kym M; Carroll, June C; Chad, Lauren; Chitayat, David; Denburg, Avram; Deyell, Rebecca J; Elliott, Alison M; Goudie, Catherine; Laberge, Anne-Marie; Maio, Melissa; Peltekova, Iskra T; Quinlan, Becky; Sawyer, Sarah L; Silver, Rachel; Smith, Maureen; Teitelbaum, Ronni; Villani, Anita; Ungar, Wendy J; Hayeems, Robin Z

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers

全基因组和转录组整合分析指导儿童预后不良癌症的临床治疗

Deyell, Rebecca J; Shen, Yaoqing; Titmuss, Emma; Dixon, Katherine; Williamson, Laura M; Pleasance, Erin; Nelson, Jessica M T; Abbasi, Sanna; Krzywinski, Martin; Armstrong, Linlea; Bonakdar, Melika; Ch'ng, Carolyn; Chuah, Eric; Dunham, Chris; Fok, Alexandra; Jones, Martin; Lee, Anna F; Ma, Yussanne; Moore, Richard A; Mungall, Andrew J; Mungall, Karen L; Rogers, Paul C; Schrader, Kasmintan A; Virani, Alice; Wee, Kathleen; Young, Sean S; Zhao, Yongjun; Jones, Steven J M; Laskin, Janessa; Marra, Marco A; Rassekh, Shahrad R

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

扩展SCN8A相关疾病的基因型-表型谱

Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A; Goodchild, Samuel J; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J P Jr; Lee, James; Michoulas, Aspasia; Huh, Linda L; Armstrong, Linlea; Connolly, Mary B; Demos, Michelle K

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

IKZF2 中的显性负性变异会导致 ICHAD 综合征,这是一种以免疫失调、颅面畸形、听力障碍、无肌张力和发育迟缓为特征的新疾病

Mohajeri Arezoo, Vaseghi-Shanjani Maryam, Rosenfeld Jill A, Yang Gui Xiang, Lu Henry, Sharma Mehul, Lin Susan, Salman Areesha, Waqas Meriam, Sababi Azamian Mahshid, Worley Kim C, Del Bel Kate L, Kozak Frederick K, Rahmanian Ronak, Biggs Catherine M, Hildebrand Kyla J, Lalani Seema R, Nicholas Sarah K, Scott Daryl A, Mostafavi Sara, van Karnebeek Clara, Henkelman Erika, Halparin Jessica, Yang Connie L, Armstrong Linlea, Turvey Stuart E, Lehman Anna

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

临床变异分析工具:分析临床实践中报告的基因组变异的证据

Chin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O B; du Souich, Christèle; Zhang, Nan; Shefchek, Kent; Prentice, Leah M; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N; Boerkoel, Cornelius F

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

全基因组测序与遗传疾病的临床诊断:CAUSES 研究

Elliott, Alison M; Adam, Shelin; du Souich, Christèle; Lehman, Anna; Nelson, Tanya N; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J; Patel, Millan S; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M

The practice of genomic medicine: A delineation of the process and its governing principles

基因组医学的实践:流程及其指导原则的阐述

Handra, Julia; Elbert, Adrienne; Gazzaz, Nour; Moller-Hansen, Ashley; Hyunh, Stephanie; Lee, Hyun Kyung; Boerkoel, Pierre; Alderman, Emily; Anderson, Erin; Clarke, Lorne; Hamilton, Sara; Hamman, Ronnalea; Hughes, Shevaun; Ip, Simon; Langlois, Sylvie; Lee, Mary; Li, Laura; Mackenzie, Frannie; Patel, Millan S; Prentice, Leah M; Sangha, Karan; Sato, Laura; Seath, Kimberly; Seppelt, Margaret; Swenerton, Anne; Warnock, Lynn; Zambonin, Jessica L; Boerkoel, Cornelius F; Chin, Hui-Lin; Armstrong, Linlea

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

麦吉尔互动式儿科肿瘤遗传学指南在识别癌症易感综合征方面的表现

Goudie, Catherine; Witkowski, Leora; Cullinan, Noelle; Reichman, Lara; Schiller, Ian; Tachdjian, Melissa; Armstrong, Linlea; Blood, Katherine A; Brossard, Josée; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Clark, Mary Egan; Clinton, Catherine; Coltin, Hallie; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Fuentes-Bolanos, Noemi; Gibson, Paul; Grant, Ronald; Hammad, Rawan; Harrison, Lynn W; Irwin, Meredith S; Johnston, Donna L; Kane, Sarah; Lafay-Cousin, Lucie; Lara-Corrales, Irene; Larouche, Valerie; Mathews, Natalie; Meyn, M Stephen; Michaeli, Orli; Perrier, Renée; Pike, Meghan; Punnett, Angela; Ramaswamy, Vijay; Say, Jemma; Somers, Gino; Tabori, Uri; Thibodeau, My Linh; Toupin, Annie-Kim; Tucker, Katherine M; van Engelen, Kalene; Vairy, Stephanie; Waespe, Nicolas; Warby, Meera; Wasserman, Jonathan D; Whitlock, James A; Sinnett, Daniel; Jabado, Nada; Nathan, Paul C; Shlien, Adam; Kamihara, Junne; Deyell, Rebecca J; Ziegler, David S; Nichols, Kim E; Dendukuri, Nandini; Malkin, David; Villani, Anita; Foulkes, William D