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

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

人类生殖系双等位基因功能缺失的OSMR变异会导致严重的过敏性疾病

Sharma, Mehul; Samra, Simran; Liu, Yihui; James, Alyssa; Michalski, Christina; Yousefi, Pariya; Del Bel, Kate L; Lu, Henry Y; Sharma, Ashish A; Tarailo-Graovac, Maja; Dalmann, Joshua; Buder, Lily; Modi, Bhavi; Drogemoller, Britt; Blanchard Rohner, Géraldine; Senger, Christof; Rehmus, Wingfield; Prendiville, Julie S; Mangino, Massimo; Ross, Colin J; van Karnebeek, Clara Dm; Wasserman, Wyeth W; Lavoie, Pascal M; Prathibha, P M; Biggs, Catherine M; Boehnke, Michael; Kinnunen, Leena; Koistinen, Heikki A; McKinnon, Margaret L; Patil, Siddaramappa Jagdish; Bayer, Diana K; Lyons, Jonathan J; Turvey, Stuart E

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

MARK4 功能获得性变异与儿童神经发育障碍和畸形有关

Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P; Biggs, Catherine M; Boelman, Cyrus; Clarke, Lorne A; Lehman, Anna; Turvey, Stuart E

Early prediction of pediatric asthma in the Canadian Healthy Infant Longitudinal Development (CHILD) birth cohort using machine learning

利用机器学习对加拿大健康婴儿纵向发展(CHILD)出生队列中的儿童哮喘进行早期预测

He, Ping; Moraes, Theo J; Dai, Darlene; Reyna-Vargas, Myrtha E; Dai, Ruixue; Mandhane, Piush; Simons, Elinor; Azad, Meghan B; Hoskinson, Courtney; Petersen, Charisse; Del Bel, Kate L; Turvey, Stuart E; Subbarao, Padmaja; Goldenberg, Anna; Erdman, Lauren

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

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

外显子组测序能够诊断嗜酸性食管炎和严重特应性疾病患者的X连锁少汗型外胚层发育不良

Modi, Bhavi P; Del Bel, Kate L; Lin, Susan; Sharma, Mehul; Richmond, Phillip A; van Karnebeek, Clara D M; Chan, Edmond S; Avinashi, Vishal; Rehmus, Wingfield E; Biggs, Catherine M; Wasserman, Wyeth W; Turvey, Stuart E

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report

儿童特发性脾肿大与RAS相关淋巴增生性疾病谱:病例报告

Blanchard-Rohner, Geraldine; Ragotte, Robert J; Junker, Anne K; Sharma, Mehul; Del Bel, Kate L; Lu, Henry Y; Erdle, Stephanie; Chomyn, Alanna; Gill, Harinder; Tucker, Lori B; Schreiber, Richard A; Rozmus, Jacob; Biggs, Catherine M; Hildebrand, Kyla J; Wu, John; Stockler-Ipsiroglu, Sylvia; Turvey, Stuart E