Author

M. Mueller

Institution: Genomics England

Observed institutions: Queen Mary University of London, Massachusetts General Hospital, Genomics England, William Harvey Research Institute, University College London

OpenAlex ID: A5113979238

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

2022 · Anthony McGuigan, James Whitworth, et al. · European Journal of Human Genetics · 46

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

2020 · Dara Tolchin, Jessica P. Yeager, et al. · The American Journal of Human Genetics · 37

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

2022 · Eleanor G. Seaby, N. Simon Thomas, et al. · Human Genetics · 17

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

2023 · Adam Jackson, Sheng-Jia Lin, et al. · Human Genetics and Genomics Advances · 12

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

2022 · Joel T. Gibson, Omid Sadeghi-Alavijeh, et al. · Scientific Reports · 3

Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project

2021 · Yuguo Wei, Nikolaos Papachristou, et al. · BMC Research Notes · 2

Works count: 6

Citation count: 117

H-index: 4

I10-index: 4