Mridul Johari

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Youjin Lee, Per Harald Jonson, J. Sarparanta et al. · Journal of Clinical Investigation · 2018 · 109 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands

James B Lilleker, Elie Naddaf, Christiaan G. J. Saris et al. · Neuromuscular Disorders · 2024 · 88 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +12

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates et al. · Genetics in Medicine · 2020 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17