<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017 · Journal of Medical Genetics · 249 citations
https://doi.org/10.1136/jmedgenet-2016-104509
K
Konrad Platzer
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Konrad Platzer is an academic researcher from Institute of Human Genetics. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 29, co-authored 115 publications.
ORCID: 0000-0001-6127-6308Papers by this author
worksGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
2019 · Nature Communications · 138 citations
https://doi.org/10.1038/s41467-018-08053-5
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
2019 · The American Journal of Human Genetics · 75 citations
https://doi.org/10.1016/j.ajhg.2018.12.008
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
2019 · Genetics in Medicine · 69 citations
https://doi.org/10.1038/s41436-019-0585-z
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
2024 · Nature Genetics · 36 citations
https://doi.org/10.1038/s41588-024-01836-1
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025 · Nature Genetics · 28 citations
https://doi.org/10.1038/s41588-025-02184-4
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