Ruth McGowan
Overview
Explore the profile of Ruth McGowan including associated specialties, affiliations and a list of published articles.
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47
Citations
535
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Recent Articles
11.
Norrish G, Kadirrajah V, Field E, Dady K, Tollit J, McLeod K, et al.
Circ Genom Precis Med
. 2023 Jun;
16(5):483-485.
PMID: 37387224
No abstract available.
12.
Hamad A, Sherlaw-Sturrock C, Glover K, Salmon R, Low K, Nair R, et al.
Eur J Med Genet
. 2023 Feb;
66(4):104714.
PMID: 36724812
Introduction: Recurrent chromosome 16p13.11 microduplication has been characterised in the literature as a cause of developmental delay, learning difficulties and behavioural abnormalities. It is a neurosusceptibility locus and has incomplete...
13.
Hocking L, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, et al.
Eur J Hum Genet
. 2022 Dec;
31(2):231-238.
PMID: 36474026
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999...
14.
Persani L, Cools M, Ioakim S, Ahmed S, Andonova S, Avbelj-Stefanija M, et al.
Endocr Connect
. 2022 Oct;
11(12).
PMID: 36228316
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification...
15.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2022 Jul;
24(10):2051-2064.
PMID: 35833929
Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional...
16.
Ahmed S, Alimusina M, Batista R, Domenice S, Gomes N, McGowan R, et al.
Sex Dev
. 2022 May;
16(2-3):207-224.
PMID: 35636390
Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD...
17.
Gillmore J, Reilly M, Coats C, Cooper R, Cox H, Coyne M, et al.
Adv Ther
. 2022 Apr;
39(6):2292-2301.
PMID: 35419651
Hereditary transthyretin-mediated amyloidosis (hATTR) is challenging to diagnose early owing to the heterogeneity of clinical presentation, which differs according to the TTR gene variant and its penetrance in each individual....
18.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier A, Achleitner M, Moreau de Bellaing A, Edwards M, De Pontual L, Mittal K, et al.
Genet Med
. 2022 Apr;
24(4):967.
PMID: 35394429
No abstract available.
19.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziolkowska L, et al.
ESC Heart Fail
. 2021 Sep;
8(6):5057-5067.
PMID: 34486247
Aims: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe...
20.
Hyder Z, Calpena E, Pei Y, Tooze R, Brittain H, Twigg S, et al.
Genet Med
. 2021 Aug;
23(12):2360-2368.
PMID: 34429528
Purpose: Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic...