Follow
Ruth McGowan
Ruth McGowan
Honorary Clinical Associate Professor, University of Glasgow
Verified email at ggc.scot.nhs.uk
Title
Cited by
Cited by
Year
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7672015
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
A Hoischen, BWM Van Bon, B Rodríguez-Santiago, C Gilissen, ...
Nature genetics 43 (8), 729-731, 2011
3112011
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2102018
Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM …
L Audi, SF Ahmed, N Krone, M Cools, K McElreavey, PM Holterhus, ...
European Journal of Endocrinology 179 (4), R197-R206, 2018
1462018
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ...
Nature genetics 49 (2), 249-255, 2017
1292017
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ...
The American Journal of Human Genetics 101 (6), 1021-1033, 2017
1112017
Randomised comparison of the effectiveness and costs of community and hospital based mental health services for children with behavioural disorders
R Harrington, S Peters, J Green, S Byford, J Woods, R McGowan
Bmj 321 (7268), 1047, 2000
1052000
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
692019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
602019
Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
R Hastings, JM Cobben, G Gillessen-Kaesbach, J Goodship, H Hove, ...
European journal of human genetics 19 (5), 513-519, 2011
572011
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
CT Gordon, A Vuillot, S Marlin, E Gerkes, A Henderson, A AlKindy, ...
Journal of medical genetics 50 (3), 174-186, 2013
562013
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)
SF Ahmed, J Achermann, J Alderson, NS Crouch, S Elford, IA Hughes, ...
Clinical endocrinology 95 (6), 818-840, 2021
542021
Disorders of sex development: advances in genetic diagnosis and challenges in management
A Kyriakou, AK Lucas-Herald, R McGowan, ES Tobias, SF Ahmed
Advances in Genomics and Genetics, 165-177, 2015
542015
X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations
J McCauley, N Masand, R McGowan, S Rajagopalan, A Hunter, ...
American Journal of Medical Genetics Part A 155 (10), 2370-2380, 2011
542011
The current state of diagnostic genetics for conditions affecting sex development
D Alhomaidah, R McGowan, SF Ahmed
Clinical Genetics 91 (2), 157-162, 2017
522017
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
C Michot, C Le Goff, C Mahaut, A Afenjar, AS Brooks, PM Campeau, ...
European Journal of Human Genetics 22 (11), 1272-1277, 2014
512014
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ...
BioRxiv, 049056, 2016
502016
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ...
Brain 143 (1), 55-68, 2020
432020
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, ...
Human Reproduction 32 (10), 2130-2137, 2017
412017
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies
M Jacobs, SA Cooper, R McGowan, SM Nelson, JP Pell
PLoS One 11 (12), e0166909, 2016
372016
The system can't perform the operation now. Try again later.
Articles 1–20