Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in <i>HNRNPH2</i>
2019 · Clinical Genetics · 20 citations
https://doi.org/10.1111/cge.13580
M
Marcus Naymik
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Marcus Naymik is an academic researcher from Translational Genomics Research Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Dementia and Cognitive Impairment Research. The author has an h-index of 17, co-authored 55 publications.
Papers by this author
worksSnyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant
2023 · Rare · 6 citations
https://doi.org/10.1016/j.rare.2023.100017
Expanded carrier screening for inherited genetic disease using exome and genome sequencing
2024 · Journal of Genetic Counseling · 3 citations
https://doi.org/10.1002/jgc4.1964
Additional file 1 of Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
2021 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.16807843
Additional file 2 of Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease
2020 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.12422432
P226: Genome sequencing after negative exome sequencing: Results in a rare disease cohort
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.102191
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