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Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesisHakan Cangul, Zehra Aycan, Halil Saglam, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndromeKatja Eggermann, Jet Bliek, Frédéric Brioude, et al.
Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 20, 2025
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinomaJan Degenhardt, Yuri Tolkach, Mahul B Amin, et al.
Scientific Reports|July 17, 2019
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practiceRuth T Casey, Rogier Ten Hoopen, Eguzkine Ochoa, et al.
Journal of Medical Genetics|August 6, 2010
Epigenotype-phenotype correlations in Silver-Russell syndromeE L Wakeling, S Abu Amero, M Alders, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Plos Genetics|February 9, 2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseNeil V Morgan, Mark R Morris, Hakan Cangul, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 11, 2011
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutationFederico Formenti, Philip A Beer, Quentin P P Croft, et al.
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