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Brain : a Journal of Neurology|December 22, 2022
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21Katherine V Sadler, John Bowes, Charlie F Rowlands, et al.Journal of Medical Genetics|June 26, 2024
<i>NF2</i>-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological studyClaire Forde, Miriam J Smith, George J Burghel, et al.Journal of Neurology, Neurosurgery, and Psychiatry|June 18, 2018
Schwannomatosis: a genetic and epidemiological studyD Gareth Evans, Naomi L Bowers, Simon Tobi, et al.Journal of Medical Genetics|August 29, 2024
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for <i>NF2</i>-related schwannomatosisMiriam J Smith, Cristina Perez-Becerril, Mwee van der Meer, et al.Genetics in Medicine Open|December 13, 2024
Population-based germline testing of <i>BRCA1, BRCA2</i>, and <i>PALB2</i> in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testingD Gareth Evans, Emma R Woodward, George J Burghel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2018
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testingD Gareth Evans, Andrew T King, Naomi L Bowers, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencingD Gareth Evans, Claire L Hartley, Philip T Smith, et al.American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.The British Journal of Dermatology|August 20, 2022
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeYanshan Liu, Siddharth Banka, Yingzhi Huang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.Pageof 9