Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
2018 · Genome Medicine · 87 citations
https://doi.org/10.1186/s13073-017-0510-5
T
Tzung‐Chien Hsieh
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Tzung‐Chien Hsieh is an academic researcher from University of Bonn. 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 20, co-authored 74 publications.
ORCID: 0000-0003-3828-4419Papers by this author
worksPEDIA: prioritization of exome data by image analysis
2019 · Genetics in Medicine · 86 citations
https://doi.org/10.1038/s41436-019-0566-2
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2023 · Journal of Clinical Investigation · 41 citations
https://doi.org/10.1172/jci171235
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
Role of CAMK2D in neurodevelopment and associated conditions
2024 · The American Journal of Human Genetics · 32 citations
https://doi.org/10.1016/j.ajhg.2023.12.016
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
2022 · European Journal of Human Genetics · 29 citations
https://doi.org/10.1038/s41431-022-01171-1
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