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Methods in Molecular Biology (Clifton, N.J.)|November 7, 2007
Detecting ligated fragments on oligonucleotide microarrays: optimizing chip design, array multiplex ligation-dependent probe amplification modification, and hybridization parametersIan R Berry, Carol A Delaney, Graham R Taylor
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 26, 2016
An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter diseaseRahul Raman Singh, John Livingston, Ming Lim, et al.
Frontiers in Immunology|November 26, 2025
Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?Sarah L Johnston, Julie C Evans, Ian R Berry, et al.
Nature Medicine|May 31, 2024
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disordersDaniel Greene, Chantal Thys, Ian R Berry, et al.
Ultrastructural Pathology|February 10, 2018
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosisRosalyn Jewell, Paul Brewer, Sophie Stenton, et al.
Familial Cancer|December 31, 2017
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutationJenny von Salomé, Tao Liu, Markku Keihäs, et al.
BMC Medical Genetics|January 6, 2016
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingChristopher M Watson, Laura A Crinnion, Ian R Berry, et al.
Neuropediatrics|December 19, 2017
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander DiseaseLydia Green, Ian R Berry, Anne-Marie Childs, et al.
Journal of Medical Genetics|November 19, 2020
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendationsAlice Garrett, Miranda Durkie, Alison Callaway, et al.
Oral Diseases|August 11, 2018
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndromeLaura L E Whitehouse, Claire E L Smith, James A Poulter, et al.
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