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
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Caroline Mackie Ogilvie
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Caroline Mackie Ogilvie is an academic researcher. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Genomic variations and chromosomal abnormalities & Chromosomal and Genetic Variations. The author has an h-index of 52, co-authored 182 publications.
ORCID: 0000-0001-6827-0443Papers by this author
worksPhenotypic features in patients with 15q11.2(BP1‐BP2) deletion: Further delineation of an emerging syndrome
2014 · American Journal of Medical Genetics Part A · 92 citations
https://doi.org/10.1002/ajmg.a.36554
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
2007 · BMC Medical Genetics · 62 citations
https://doi.org/10.1186/1471-2350-8-9
Strategy for the creation of clinical grade hESC line banks that HLA‐match a target population
2012 · EMBO Molecular Medicine · 50 citations
https://doi.org/10.1002/emmm.201201973
The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders
2013 · Psychopharmacology · 49 citations
https://doi.org/10.1007/s00213-013-3196-4
Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach
2001 · Cytogenetic and Genome Research · 48 citations
https://doi.org/10.1159/000056985
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