Elizabeth M Thompson
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Explore the profile of Elizabeth M Thompson including associated specialties, affiliations and a list of published articles.
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32
Citations
1215
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Recent Articles
1.
Croft B, Bird A, Ono M, Eggers S, Bagheri-Fam S, Ryan J, et al.
Clin Genet
. 2022 Nov;
103(3):277-287.
PMID: 36349847
46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male-to-female sex reversal. Around 50% of 46,XY DSD...
2.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin A, Chatterton Z, Carew-Jones F, et al.
Brain
. 2020 Mar;
143(3):783-799.
PMID: 32185393
Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 with genome-wide significant linkage in...
3.
Thompson E, Sollinger J, Opara E, Adin C
Cell Transplant
. 2018 Jun;
27(3):542-550.
PMID: 29869518
Currently, islet isolation is performed using harsh collagenases that cause nonspecific injury to both islets and exocrine tissue, negatively affecting the outcome of cell transplantation. We evaluated a novel islet...
4.
Robevska G, van den Bergen J, Ohnesorg T, Eggers S, Hanna C, Hersmus R, et al.
Hum Mutat
. 2017 Oct;
39(1):124-139.
PMID: 29027299
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel...
5.
Geisheker M, Heymann G, Wang T, Coe B, Turner T, Stessman H, et al.
Nat Neurosci
. 2017 Jun;
20(8):1043-1051.
PMID: 28628100
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of...
6.
Eggers S, Sadedin S, van den Bergen J, Robevska G, Ohnesorg T, Hewitt J, et al.
Genome Biol
. 2016 Dec;
17(1):243.
PMID: 27899157
Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of...
7.
Forrest C, Casey G, Mordaunt D, Thompson E, Gordon L
Pediatr Dermatol
. 2016 Apr;
33(3):337-42.
PMID: 27041546
Background: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations...
8.
Kumar R, Corbett M, van Bon B, Gardner A, Woenig J, Jolly L, et al.
Hum Mol Genet
. 2015 Oct;
24(25):7171-81.
PMID: 26443594
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the...
9.
Koolen D, Pfundt R, Linda K, Beunders G, Veenstra-Knol H, Conta J, et al.
Eur J Hum Genet
. 2015 Aug;
24(5):652-9.
PMID: 26306646
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic...
10.
Terhal P, Nievelstein R, Verver E, Topsakal V, van Dommelen P, Hoornaert K, et al.
Am J Med Genet A
. 2015 Jan;
167A(3):461-75.
PMID: 25604898
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never...