Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
2022 · International Journal of Molecular Sciences · 14 citations
https://doi.org/10.3390/ijms232213664
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Peter Lauffer
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Peter Lauffer is an academic researcher from Amsterdam Neuroscience. The author has contributed to research in topics: Epigenetics and DNA Methylation & Genetics and Neurodevelopmental Disorders & Growth Hormone and Insulin-like Growth Factors. The author has an h-index of 9, co-authored 34 publications.
ORCID: 0000-0002-1174-7340Papers by this author
worksCUL3-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
Supplementary Files from: Broadening the spectrum of loss-of-function variants in NPR-C-related extreme tall stature
2022 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.17091203
Supplementary Files from: Tall stature and macrodactyly of the halluces due to biallelic deleterious variants in natriuretic peptide receptor-C
2021 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.17091203.v2
Supplementary Material for: Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician
2019 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.8863559
Supplementary Files from: Variants in NPR-C can cause a milder phenotype associated with extreme tall stature, macrodactyly of the halluces but without pseudo-epiphyses
2021 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.17091203.v3
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