Research output per year
Research output per year
Personal profile
Biography
Dr. Mridul Johari is a passionate researcher and scholar with a focus on the Molecular Genetics of neuromuscular diseases. He earned his Ph.D. in January 2022 under the esteemed guidance of Prof. Bjarne Udd at the University of Helsinki, Finland. The public defense of his thesis, a significant milestone in his career, was rigorously conducted by his honourable opponent, the distinguished Prof. Kevin Campbell.
His research work involves unravelling the molecular genetics of congenital, early, and late-onset skeletal muscle diseases. Dr. Johari's primary goal is to make a substantial contribution to the diagnosis and eventual development of effective treatments, with the aim of significantly improving the quality of life for patients and their families.
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Molecular Genetics, PhD, Molecular Genetics of Inclusion Body Myositis and Late onset Rimmed Vacuolar distal myopathies, University of Helsinki
Award Date: 26 Jan 2022
External positions
Visiting Researcher, University of Helsinki
2022 → 31 Dec 2024
Fingerprint
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- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
De Winter, J., Van de Vondel, L., Ermanoska, B., Monticelli, A., Isapof, A., Cohen, E., Stojkovic, T., Hackman, P., Johari, M., Palmio, J., Waldrop, M. A., Meyer, A. P., Nicolau, S., Flanigan, K. M., Töpf, A., Diaz-Manera, J., Straub, V., Longman, C., McWilliam, C. A. & Orbach, R. & 18 others, , Jun 2025, In: Genetics in Medicine. 27, 6, p. 1-13 13 p., 101399.Research output: Contribution to journal › Article › peer-review
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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen, D., Johari, M., Ozisik, O., ’t Hoen, P. A. C., Ehrhart, F., Baudot, A., Evelo, C. T., Udd, B., Roos, M. & Mina, E., Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, p. 27 1 p., 27.Research output: Contribution to journal › Article › peer-review
Open Access -
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
Oghabian, A., Jonson, P. H., Gayathri, S. N., Johari, M., Nippala, E., Andres, D. G., Munell, F., Soriano, J. C., Duran, M. A. S., Sinisalo, J., Tolppanen, H., Tolva, J., Hackman, P., Savarese, M. & Udd, B., Dec 2025, In: Skeletal Muscle. 15, 1, 13 p., 5.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?
Kalantari, S., Silva, R. G., Johari, M., Ferreira, J. C. & Parachini, M., Mar 2025, In: European Journal of Human Genetics. 33, 2, p. 151-153 3 p., 115760.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
The classification of myositis: setting the stage for a universal terminology
the International Myositis Society (iMyoS), 26 Feb 2025, In: Clinical and Experimental Rheumatology. 43, 2, p. 178-183 6 p.Research output: Contribution to journal › Editorial › peer-review
Datasets
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Additional file 4 of Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen, D. (Creator), Johari, M. (Creator), Ozisik, O. (Creator), ‘t Hoen, P. A. C. (Creator), Ehrhart, F. (Creator), Baudot, A. (Creator), Evelo, C. T. (Creator), Udd, B. (Creator), Roos, M. (Creator) & Mina, E. (Creator), Figshare, 16 Jan 2025
DOI: 10.6084/m9.figshare.28217037.v1, https://springernature.figshare.com/articles/dataset/Additional_file_4_of_Multi-omics_analysis_in_inclusion_body_myositis_identifies_mir-16_responsible_for_HLA_overexpression/28217037/1
Dataset
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Supporting data for Inclusion Body Myositis Active Subnetwork Identification Workflow
Wijnbergen, D. (Creator) & Johari, M. (Creator), Zenodo, 2023
DOI: 10.5281/zenodo.10411125, https://zenodo.org10411125
Dataset
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Additional file 2 of Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen, D. (Creator), Johari, M. (Creator), Ozisik, O. (Creator), ‘t Hoen, P. A. C. (Creator), Ehrhart, F. (Creator), Baudot, A. (Creator), Evelo, C. T. (Creator), Udd, B. (Creator), Roos, M. (Creator) & Mina, E. (Creator), Figshare, 16 Jan 2025
DOI: 10.6084/m9.figshare.28217031, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Multi-omics_analysis_in_inclusion_body_myositis_identifies_mir-16_responsible_for_HLA_overexpression/28217031
Dataset
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Additional file 1 of Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen, D. (Creator), Johari, M. (Creator), Ozisik, O. (Creator), ‘t Hoen, P. A. C. (Creator), Ehrhart, F. (Creator), Baudot, A. (Creator), Evelo, C. T. (Creator), Udd, B. (Creator), Roos, M. (Creator) & Mina, E. (Creator), Figshare, 16 Jan 2025
DOI: 10.6084/m9.figshare.28217028, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Multi-omics_analysis_in_inclusion_body_myositis_identifies_mir-16_responsible_for_HLA_overexpression/28217028
Dataset
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Additional file 3 of Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen, D. (Creator), Johari, M. (Creator), Ozisik, O. (Creator), ‘t Hoen, P. A. C. (Creator), Ehrhart, F. (Creator), Baudot, A. (Creator), Evelo, C. T. (Creator), Udd, B. (Creator), Roos, M. (Creator) & Mina, E. (Creator), Figshare, 16 Jan 2025
DOI: 10.6084/m9.figshare.28217034.v1, https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Multi-omics_analysis_in_inclusion_body_myositis_identifies_mir-16_responsible_for_HLA_overexpression/28217034/1
Dataset
Projects
- 1 Active
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From Coding to Cryptic - Exploring the RNA World of Inclusion Body Myositis (IBM)
Johari, M. (Investigator 01), Needham, M. (Investigator 02), Forrest, A. (Investigator 03), Savarese, M. (Investigator 04) & Roos, A. (Investigator 05)
6/01/25 → 24/12/26
Project: Research
Prizes
Activities
- 5 Contribution or participation in a conference
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European Society of Human Genetics
Johari, M. (Speaker)
2024Activity: Conferences and workshops › Contribution or participation in a conference
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European Society of Human Genetics
Johari, M. (Member of programme committee)
2024Activity: Conferences and workshops › Contribution or participation in a conference
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European Society of Human Genetics
Johari, M. (Member of programme committee)
2023Activity: Conferences and workshops › Contribution or participation in a conference
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28th International Congress of World Muscle Society
Johari, M. (Speaker)
2023Activity: Conferences and workshops › Contribution or participation in a conference
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European Society of Human Genetics 2022
Johari, M. (Member of programme committee)
2022Activity: Conferences and workshops › Contribution or participation in a conference