Ian Berry

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian Berry et al. · BMC Medical Genetics · 2016 · 91 citations · Full text

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

Cankut Çubuk, Alice Garrett, Subin Choi et al. · Genetics in Medicine · 2021 · 76 citations · Full text

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Daniel Greene, Chantal Thys, Ian Berry et al. · Nature Medicine · 2024 · 70 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +14

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan et al. · The American Journal of Human Genetics · 2018 · 68 citations · Full text