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American Journal of Medical Genetics. Part A|September 19, 2009
Genotype-phenotype correlations in VHL exon deletionsAlisdair McNeill, Eleanor Rattenberry, Richard Barber, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Microarray based analysis of 3p25-p26 deletions (3p- syndrome)Salwati Shuib, Dominic McMullan, Eleanor Rattenberry, et al.
Genes, Chromosomes & Cancer|April 2, 2011
Copy number profiling in von Hippel-Lindau disease renal cell carcinomaSalwati Shuib, Wenbin Wei, Hariom Sur, et al.
European Journal of Human Genetics : EJHG|November 16, 2006
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10Dominic R A White, Anuradha Ganesh, Darryl Nishimura, et al.
Cancer Discovery|April 16, 2015
Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell CarcinomaMariam Jafri, Naomi C Wake, David B Ascher, et al.
Endocrine-Related Cancer|May 27, 2014
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triadFlorian Haller, Evgeny A Moskalev, Fabio R Faucz, 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.
Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicityRuth T Casey, David B Ascher, Eleanor Rattenberry, et al.
The Journal of Clinical Endocrinology and Metabolism|October 4, 2017
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature ReviewRuth T Casey, Anne Y Warren, Jose Ezequiel Martin, et al.
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