CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Nature Communications · 118 citations
https://doi.org/10.1038/s41467-018-06014-6
G
Glen R. Monroe
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Glen R. Monroe is an academic researcher. The author has contributed to research in topics: Neurological diseases and metabolism & Genetic and Kidney Cyst Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 22, co-authored 49 publications.
ORCID: 0000-0002-8653-2643Papers by this author
worksGenetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017 · Human Genetics · 117 citations
https://doi.org/10.1007/s00439-017-1772-0
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing
2020 · Nature Communications · 73 citations
https://doi.org/10.1038/s41467-020-16641-7
Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup
2020 · Cancers · 48 citations
https://doi.org/10.3390/cancers12051308
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
2016 · BMC Genomics · 44 citations
https://doi.org/10.1186/s12864-016-3186-0
Additional file 1: of Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
2016 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.c.3621947_d2
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