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Human Mutation|June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
The Journal of Clinical Endocrinology and Metabolism|January 23, 2013
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohortNils Krone, Ian T Rose, Debbie S Willis, et al.
JNCI Cancer Spectrum|August 14, 2025
REaCT-5G: a randomized trial of bone pain with 5-day-filgrastim vs. pegfilgrastim for neutropenia in breast cancerTerry L Ng, Peter Greenstreet, Carol Stober, 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.
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.
Clinical Endocrinology|April 19, 2008
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriersUmasuthan Srirangalingam, Lisa Walker, Bernard Khoo, et al.
Familial Cancer|July 10, 2012
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndromeMichael P Farrell, David J Hughes, Ian R Berry, et al.
Endocrine-Related Cancer|February 12, 2009
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumoursUmasuthan Srirangalingam, Bernard Khoo, Lisa Walker, et al.
Clinical Endocrinology|October 18, 2012
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paragangliomaMariam Jafri, James Whitworth, Eleanor Rattenberry, et al.
Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.
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