Publications by authors named "Ian R Berry"

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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, Oliver T Watkinson

Front Immunol· November 2025

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Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus

Nat Med· August 2024

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Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Ian R Berry

Mov Disord· June 2024

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Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Lucy Loong, Alice Garrett, Sophie Allen, Subin Choi, Miranda Durkie, Ian R Berry

Genet Med· September 2022

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Ian R Berry

Genet Med· March 2022

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Ian R Berry

Am J Hum Genet· June 2021

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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, Ian R Berry

J Med Genet· May 2021

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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Georgios Nikolopoulos, Claire E L Smith, James A Poulter, Gina Murillo, Sandra Silva, Ian R Berry

Hum Mutat· May 2021

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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, Ian R Berry

J Med Genet· December 2020

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Cerebral hypomyelination associated with biallelic variants of FIG4.
Guy M Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green

Hum Mutat· May 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Ian R Berry

Lancet· February 2019

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Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.
Laura L E Whitehouse, Claire E L Smith, James A Poulter, Catriona J Brown, Anesha Patel, Ian R Berry

Oral Dis· January 2019

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Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
Jenny von Salomé, Tao Liu, Markku Keihäs, Moni Morak, Elke Holinski-Feder, Ian R Berry

Fam Cancer· October 2018

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Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Rosalyn Jewell, Paul Brewer, Sophie Stenton, Ian R Berry, Sue Chatfield

Ultrastruct Pathol· August 2018

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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Eveline Boudin, Tjeerd R de Jong, Tim C R Prickett, Bruno Lapauw, Kaatje Toye, Ian R Berry

Am J Hum Genet· August 2018

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Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.
Lydia Green, Ian R Berry, Anne-Marie Childs, Helen McCullagh, Sandhya Jose

Neuropediatrics· April 2018

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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry

Hum Mol Genet· February 2018

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An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.
Rahul Raman Singh, John Livingston, Ming Lim, Ian R Berry, Ata Siddiqui

Eur J Paediatr Neurol· March 2017

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
Christopher M Watson, Laura A Crinnion, Ian R Berry, Sally M Harrison, Carolina Lascelles

BMC Med Genet· January 2016

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Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Michael P Farrell, David J Hughes, Ian R Berry, David J Gallagher, Emily A Glogowski

Fam Cancer· September 2012

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Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Angel O K Chan, W M But, K L Ng, L M Wong, Y Y Lam, Ian R Berry

Steroids· November 2011

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Detecting ligated fragments on oligonucleotide microarrays: optimizing chip design, array multiplex ligation-dependent probe amplification modification, and hybridization parameters.
Ian R Berry, Carol A Delaney, Graham R Taylor

Methods Mol Biol· December 2007

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