Concepedia

Elizabeth M. Thompson

EM

Statistics

Publications

55

Citations

4.2K

H-Index

34

Active since

1982

Affiliations

Women's and Children's Hospital(Current)

The University of Adelaide

South Australia Pathology

Great Ormond Street Hospital

University College London

Elizabeth M. Thompson is an author at Women's and Children's Hospital specializing in genetics, human genetics, and genetic disorders.

Publications per year

1982–2022

55

Publications

55

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

, , +7

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 397 citations · Full text

, , +17

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

, , +8

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Ági K. Gedeon, Alison Colley, Robyn V. Jamieson et al. · Nature Genetics · 1999 · 187 citations

, , +6

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang et al. · Nature Neuroscience · 2017 · 181 citations · Full text

, , +16

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