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Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individualsCeris I Owen, Ramsay Bowden, Michael J Parker, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
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