Elisabeth Rosser
Overview
Explore the profile of Elisabeth Rosser including associated specialties, affiliations and a list of published articles.
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28
Citations
822
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Recent Articles
1.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim U, Kruszewski A, et al.
Brain Commun
. 2021 Sep;
3(3):fcab162.
PMID: 34466801
Pathogenic variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular...
2.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Cairns L, Rankin J, Hamad A, Cooper N, Merrifield K, Jain V, et al.
J Med Genet
. 2021 May;
59(6):544-548.
PMID: 33963046
Introduction: Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants...
3.
Gardner E, Prigmore E, Gallone G, Danecek P, Samocha K, Handsaker J, et al.
Nat Commun
. 2019 Oct;
10(1):4630.
PMID: 31604926
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to...
4.
Adlington K, Smith J, Crabtree J, Win S, Rennie J, Khodatars K, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2019 May;
180(8):566-575.
PMID: 31077569
Recent advances in genetic research have led to an increased focus on genetic causes of intellectual disability (ID) and have raised new questions about how and when clinicians offer genetic...
5.
Handley M, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, et al.
PLoS Genet
. 2019 Mar;
15(3):e1007605.
PMID: 30856165
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated "mutation...
6.
Nethisinghe S, Lim W, Ging H, Zeitlberger A, Abeti R, Pemble S, et al.
Front Cell Neurosci
. 2018 Dec;
12:429.
PMID: 30532692
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (). The disease has a varied...
7.
Fabian I, Rosser E, Sagoo M
Community Eye Health
. 2018 Jun;
31(101):29-30.
PMID: 29915469
No abstract available.
8.
Rosser E, Sagoo M
Community Eye Health
. 2018 Jun;
31(101):8-9.
PMID: 29915459
No abstract available.
9.
Hinds A, Rosser E, Reddy M
Ophthalmic Genet
. 2018 Apr;
39(3):396-398.
PMID: 29617172
The constellation of signs including microcephaly, retinal colobomas, and exudative vitreo-retinopathy suggests a mutation of the KIF-11 gene on chromosome 10q. We report a female infant with these features but...
10.
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier D, Ryan C, et al.
Am J Med Genet A
. 2017 Dec;
176(2):311-318.
PMID: 29193663
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47...