High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
2021 · Journal of Human Genetics · 32 citations
https://doi.org/10.1038/s10038-021-00925-x
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Peter Conner
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Peter Conner is an academic researcher from Karolinska University Hospital. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Congenital Diaphragmatic Hernia Studies & Congenital Anomalies and Fetal Surgery. The author has an h-index of 22, co-authored 68 publications.
ORCID: 0000-0002-9246-3277Papers by this author
worksPrenatal diagnosis in Sweden 2011 to 2013—a register-based study
2016 · BMC Pregnancy and Childbirth · 27 citations
https://doi.org/10.1186/s12884-016-1165-8
Identification of protein biomarkers associated with congenital diaphragmatic hernia in human amniotic fluid
2023 · Scientific Reports · 10 citations
https://doi.org/10.1038/s41598-023-42576-2
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
2025 · European Journal of Human Genetics · 3 citations
https://doi.org/10.1038/s41431-025-01886-x
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