Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
2019 · Nature Communications · 147 citations
https://doi.org/10.1038/s41467-019-10649-4
J
Johanna C. Herkert
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Johanna C. Herkert is an academic researcher from University Medical Center Groningen. The author has contributed to research in topics: Cardiomyopathy and Myosin Studies & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 25, co-authored 56 publications.
ORCID: 0000-0003-0461-9102Papers by this author
worksThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
2018 · Genetics in Medicine · 132 citations
https://doi.org/10.1038/s41436-018-0330-z
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
2008 · Hereditary Cancer in Clinical Practice · 26 citations
https://doi.org/10.1186/1897-4287-6-1-15
Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
2023 · Brain · 10 citations
https://doi.org/10.1093/brain/awad231
<scp>POU3F3</scp> ‐related disorder: Defining the phenotype and expanding the molecular spectrum
2023 · Clinical Genetics · 6 citations
https://doi.org/10.1111/cge.14353
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
2024 · Human Genetics and Genomics Advances · 5 citations
https://doi.org/10.1016/j.xhgg.2024.100380
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