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Works (8)

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

2025-03-28 | Other
DOI: 10.1084/jem.20241174
Contributors: Maryam Vaseghi-Shanjani; Mehul Sharma; Pariya Yousefi; Simran Samra; Kaitlin Laverty; Arttu Jolma; Rozita Razavi; Ally Yang; Mihai Albu; Liam Golding et al.
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Longitudinal Multi-omic Immune Profiling Reveals Age-Related Immune Cell Dynamics in Healthy Adults

2024-09-14 | Preprint
DOI: 10.1101/2024.09.10.612119
Contributors: Qiuyu Gong; Mehul Sharma; Emma L. Kuan; Marla C. Glass; Aishwarya Chander; Mansi Singh; Lucas T. Graybuck; Zachary J. Thomson; Christian M. LaFrance; Samir Rachid Zaim et al.
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A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis

2024-06-28 | Preprint
DOI: 10.1101/2024.06.26.24309360
Contributors: Maryam Vaseghi-Shanjani; Mehul Sharma; Pariya Yousefi; Simran Samra; Kaitlin U. Laverty; Arttu Jolma; Rozita Razavi; Ally H. W. Yang; Mihai Albu; Liam Golding et al.
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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

2023-08-29 | Preprint
DOI: 10.1101/2023.08.25.23294399
Contributors: Simran Samra; Mehul Sharma; Maryam Vaseghi-Shanjani; Kate L. Del Bel; Loryn Byres; Susan Lin; Joshua Dalmann; Areesha Salman; Jill Mwenifumbo; Bhavi P. Modi et al.
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Human germline heterozygous gain-of-functionSTAT6variants cause severe allergic disease

Journal of Experimental Medicine
2023-05-01 | Journal article
DOI: 10.1084/jem.20221755
Contributors: Mehul Sharma; Daniel Leung; Mana Momenilandi; Lauren C.W. Jones; Lucia Pacillo; Alyssa E. James; Jill R. Murrell; Selket Delafontaine; Jesmeen Maimaris; Maryam Vaseghi-Shanjani et al.
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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

Blood
2022-10-27 | Journal article
DOI: 10.1182/blood.2022015674
Contributors: Mehul Sharma; Maggie P. Fu; Henry Y. Lu; Ashish A. Sharma; Bhavi P. Modi; Christina Michalski; Susan Lin; Joshua Dalmann; Areesha Salman; Kate L. Del Bel et al.
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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

2022-04-28 | Preprint
DOI: 10.1101/2022.04.25.22274265
Contributors: Mehul Sharma; Henry Y. Lu; Maryam Vaseghi-Shanjani; Kate L. Del Bel; Oriol Fornes; Robin van der Lee; Phillip A. Richmond; Susan Lin; Joshua Dalmann; Jessica J. Lee et al.
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Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy

2022-02-03 | Preprint
DOI: 10.1101/2022.01.30.22269378
Contributors: Mehul Sharma; Maggie P. Fu; Henry Y. Lu; Ashish A. Sharma; Bhavi P. Modi; Christina Michalski; Susan Lin; Joshua Dalmann; Areesha Salman; Kate L. Del Bel et al.
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