Ruth McGowan
Overview
Explore the profile of Ruth McGowan including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
47
Citations
535
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Sahibqran M, Lucas-Herald A, McGowan R, Shaikh M
Arch Dis Child Educ Pract Ed
. 2025 Feb;
PMID: 39956551
No abstract available.
2.
Abbott M, Ryan M, Hernandez R, McKenzie L, Heidenreich S, Hocking L, et al.
Eur J Health Econ
. 2024 Sep;
PMID: 39249625
Aims: This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland. Methods: Six genetic and genomic...
3.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet
. 2024 May;
111(6):1140-1164.
PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
4.
Pearson M, McGowan R, Greene P, Lam W, Miedzybrodzka Z, Berg J
Eur J Hum Genet
. 2024 Apr;
32(6):731-735.
PMID: 38627541
Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective multi-centre case-note review identified 28 patients with a pathogenic SMAD4 variant from 13 families...
5.
Tobias E, Lucas-Herald A, Sagar D, Montezano A, Rios F, Camargo L, et al.
Endocrine
. 2024 Feb;
84(2):345-349.
PMID: 38400880
Purpose: Disorders/differences of sex development (DSD) result from variants in many different human genes but, frequently, have no detectable molecular cause. Methods: Detailed clinical and genetic phenotyping was conducted on...
6.
Lucas-Herald A, Alkanhal K, Caney E, Malik I, Alimussina M, McNeilly J, et al.
J Endocr Soc
. 2024 Jan;
8(2):bvad153.
PMID: 38205164
Background: Bilateral undescended testes (BUDT) may be a marker of an underlying condition that affects sex development or maturation. Aims: To describe the extent of gonadal dysfunction in cases of...
7.
Templeton K, Thompson L, Tobias E, Ahmed S, McGowan R
Clin Dysmorphol
. 2023 Dec;
33(1):38-42.
PMID: 38038056
No abstract available.
8.
Patjamontri S, Lucas-Herald A, McMillan M, Prasad R, Metherell L, McGowan R, et al.
Horm Res Paediatr
. 2023 Nov;
97(5):509-514.
PMID: 38011841
Introduction: Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency, and it is unclear whether these cases may...
9.
Below N, Morrison D, McGowan R, Jones G
Endocrinol Diabetes Metab Case Rep
. 2023 Oct;
2023(4).
PMID: 37855645
Summary: A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing...
10.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2023 Sep;
25(11):100962.
PMID: 37658852
No abstract available.