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Nature Genetics|November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.
Health Technology Assessment (Winchester, England)|July 14, 2025
Variation within and between digital pathology and light microscopy for the diagnosis of histopathology slides: blinded crossover comparison studyDavid Rj Snead, Ayesha S Azam, Jenny Thirlwall, et al.
The Lancet. Gastroenterology & Hepatology|May 1, 2018
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing studyEleanor Fewings, Alexey Larionov, James Redman, et al.
Histopathology|April 21, 2026
World Health Organization classification of tumours of the breast 6th edition 2026Cecily Quinn, Puay Hoon Tan, Kimberly H Allison, et al.
Nature|April 24, 2012
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroupsChristina Curtis, Sohrab P Shah, Suet-Feung Chin, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Breast Cancer Research and Treatment|June 5, 2008
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort studyTimothy R Rebbeck, Antonis C Antoniou, Trinidad Caldes Llopis, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
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