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JCO Precision Oncology|April 6, 2019
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utilityRuth T Casey, Mary A McLean, Basetti Madhu, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2025
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and miceEguzkine Ochoa, Ilona Zvetkova, Sunwoo Liv Lee, et al.
European Journal of Cancer (Oxford, England : 1990)|June 16, 2021
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study GroupJanna A Hol, Rosalyn Jewell, Tanzina Chowdhury, et al.
Clinical Endocrinology|December 15, 2012
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous communityHakan Cangul, Zehra Aycan, Alvaro Olivera-Nappa, et al.
Journal of Cancer Research and Clinical Oncology|April 2, 2023
Single-centre experience with peptide receptor radionuclide therapy for neuroendocrine tumours (NETs): results using a theranostic molecular imaging-guided approachS Gordon, D L H Chan, E J Bernard, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN J Smilinich, C D Day, G V Fitzpatrick, et al.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paragangliomaEleanor Rattenberry, Lindsey Vialard, Anna Yeung, et al.
Journal of Medical Genetics|August 28, 2021
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytomaLaurene Ben Aim, Eamonn R Maher, Alberto Cascon, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 5, 2017
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and HepatoblastomaJennifer M Kalish, Leslie Doros, Lee J Helman, et al.
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