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Nature Genetics|August 9, 2011
Germline mutations in RAD51D confer susceptibility to ovarian cancerChey Loveday, Clare Turnbull, Emma Ramsay, et al.Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.American Journal of Human Genetics|June 19, 2018
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor PhenotypesJames Whitworth, Philip S Smith, Jose-Ezequiel Martin, et al.Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.The Journal of Clinical Endocrinology and Metabolism|December 16, 2014
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohortJudit Dénes, Francesca Swords, Eleanor Rattenberry, et al.Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.Nature|December 18, 2012
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancerElise Ruark, Katie Snape, Peter Humburg, et al.Pageof 38