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V

Vaseghi-Shanjani, Maryam

mcmaster university
H指数:0
被引数:29

个人简介

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教育背景

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工作经历

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荣誉奖项

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A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

ThPOK基因中的一个多形态变异导致免疫缺陷伴T细胞缺陷和纤维化。

JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2025-05-200
PRE
Vaseghi-Shanjani, Maryam; Sharma, Mehul; Yousefi, Pariya; Samra, Simran; Laverty, Kaitlin U.; Jolma, Arttu; Razavi, Rozita; Yang, Ally H. W.; Albu, Mihai; Golding, Liam; Lee, Anna F.; Tan, Ryan; Richmond, Phillip A.; Bosticardo, Marita; Rayment, Jonathan H.; Yang, Connie L.; Hildebrand, Kyla J.; Brager, Rae; Demos, Michelle K.; Lau, Yu-Lung; Notarangelo, Luigi D.; Hughes, Timothy R.; Biggs, Catherine M.
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

一个导致综合征性原发性免疫调节紊乱和ICHAD的生殖系杂合显性负性IKZF2变异体

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2025-04-280
OA
Lu, Henry Y.; Vaseghi-Shanjani, Maryam; Lam, Avery J.; Sharma, Mehul; Mohajeri, Arezoo; Silva, Leandro B. R.; Gillies, Jana; Yang, Gui Xiang; Lin, Susan; Fu, Maggie P.; Salman, Areesha; Rahmanian, Ronak; Armstrong, Linlea; Halparin, Jessica; Yang, Connie L.; Chilvers, Mark; Henkelman, Erika; Rehmus, Wingfield; Morrison, Douglas; Setiadi, Audi; Mostafavi, Sara; Kobor, Michael S.; Kozak, Frederick K.; Biggs, Catherine M.; van Karnebeek, Clara; Hildebrand, Kyla J.; Levings, Megan K.; Turvey, Stuart E.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases

在一大批听力受损人群中，外显子组变体优先排序表明IKZF2与非综合征性听力损失有关，并指导未解决病例的未来研究

HUMAN GENETICS
IF3.6
2024-10-161
OAAI
Velde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, Helger G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; Pennings, Ronald J. E.; Kremer, Hannie
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-06-146
PRE
Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Azamian, Mahshid Sababi; 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
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

人类生殖系杂合功能增益STAT6变体导致严重的过敏性疾病

JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2023-03-0841
OAAI
Sharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E.

研究方向

暂未获取到该数据
C
Catherine M. Biggs
H 指数:37论文数:130被引数:5,090
S
Stuart E. Turvey
H 指数:79论文数:606被引数:2.8万
M
Michael R. D’Agostino
H 指数:15论文数:43被引数:1,271
Zhou Xing 封面图
Zhou Xing
H 指数:65论文数:232被引数:1.5万
M
Mangalakumari Jeyanathan
H 指数:32论文数:114被引数:4,681
S
Sam Afkhami
H 指数:22论文数:85被引数:3,236
Y
Yushi Yao
H 指数:21论文数:64被引数:2,099
M
Mehul Sharma
H 指数:16论文数:47被引数:809
A
Anna Zganiacz
H 指数:28论文数:68被引数:3,075
H
Henry Y. Lu
H 指数:18论文数:67被引数:1,352