Dr Ruth McGowan

  • Honorary Clinical Associate Professor (School of Medicine, Dentistry & Nursing)

Publications

List by: Type | Date

Jump to: 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2012
Number of items: 18.

2024

Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)

Lucas-Herald, A. K. et al. (2024) Gonadal function in boys with bilateral undescended testes. Journal of the Endocrine Society, 8(2), bvad153. (doi: 10.1210/jendso/bvad153) (PMID:38205164) (PMCID:PMC10777671)

2023

Hocking, L. J. et al. (2023) Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European Journal of Human Genetics, 31(2), pp. 231-238. (doi: 10.1038/s41431-022-01226-3) (PMID:36474026) (PMCID:PMC9905562)

2022

Ahmed, S. Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549, Alimusina, Malika, Batista, Rafael L., Domenice, Sorahia, Gomes, Nathalia Lisboa, McGowan, Ruth, Patjamontri, Supitcha and Mendonca, Berenice B. (2022) The use of genetics for reaching a diagnosis in XY DSD. Sexual Development, 16(2-3), pp. 207-224. (doi: 10.1159/000524881) (PMID:35636390)

2021

Ahmed, S. F. et al. (2021) Society for Endocrinology UK guidance on the initial evaluation of a suspected difference or disorder of sex development (DSD) (Revised 2021). Clinical Endocrinology, 95(6), pp. 818-840. (doi: 10.1111/cen.14528) (PMID:34031907)

2020

Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)

Hughes-Mccormack, Laura Anne, McGowan, Ruth, Pell, Jill P. ORCID logoORCID: https://orcid.org/0000-0002-8898-7035, Mackay, Daniel ORCID logoORCID: https://orcid.org/0000-0001-5381-7098, Henderson, Angela ORCID logoORCID: https://orcid.org/0000-0002-6146-3477, O'Leary, Lisa and Cooper, Sally-Ann ORCID logoORCID: https://orcid.org/0000-0001-6054-7700 (2020) Birth incidence, deaths, and hospitalisation of children and young people with Down syndrome, 1990-2015: birth cohort study. BMJ Open, 10, e033770. (doi: 10.1136/bmjopen-2019-033770) (PMID:32241786)

2019

Gazdagh, Gabriella E., Wang, Cunyi, McGowan, Ruth, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2019) Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. Clinical Dysmorphology, 28(3), pp. 112-117. (doi: 10.1097/MCD.0000000000000275) (PMID:30921090)

2018

Alimussina, Malika, Diver, Louise A., McNeilly, Jane D., Lucas-Herald, Angela K. ORCID logoORCID: https://orcid.org/0000-0003-2662-1684, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, McGowan, Ruth and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2018) Phenotypic and genetic assessment of boys with a suspected XY disorder of sex development. Hormone Research in Paediatrics, 90(Sup 1), p. 550. (doi: 10.1159/000492307)

Gazdagh, Gabriella, McGowan, Ruth, Ahmed, Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549, DDD Study and Tobias, Edward ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 (2018) Exomic sequencing uncovers novel genetic associations for Deciphering Developmental Disorders (DDD) study participants with hypospadias, cardiovascular and neurodevelopmental abnormalities. Hormone Research in Paediatrics, 90(Sup 1), p. 51. (doi: 10.1159/000492307)

Alimussina, Malika, Diver, Louise Ann, McGowan, Ruth and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2018) Genetic testing of XY newborns with a suspected disorder of sex development. Current Opinion in Pediatrics, 30(4), pp. 548-557. (doi: 10.1097/MOP.0000000000000644) (PMID:29782383)

2017

Nixon, R., Cerqueira, V., Kyriakou, A., Lucas-Herald, A. ORCID logoORCID: https://orcid.org/0000-0003-2662-1684, McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, McGowan, R. and Ahmed, S.F. ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2017) Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human Reproduction, 32(10), pp. 2130-2137. (doi: 10.1093/humrep/dex280) (PMID:28938747) (PMCID:PMC5850224)

McLeod, Karen A., Fern, Eileen, Clements, Fiona and McGowan, Ruth (2017) Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death. Cardiology in the Young, 27(7), pp. 1271-1279. (doi: 10.1017/S1047951117000026) (PMID:28606196)

Alhomaidah, D., McGowan, R. and Ahmed, S.F. ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2017) The current state of diagnostic genetics for conditions affecting sex development. Clinical Genetics, 91(2), pp. 157-162. (doi: 10.1111/cge.12912) (PMID:28127758)

Gordon, C. T. et al. (2017) De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics, 49, pp. 249-255. (doi: 10.1038/ng.3765) (PMID:28067911)

2016

Jacobs, Myrthe, Cooper, Sally-Ann ORCID logoORCID: https://orcid.org/0000-0001-6054-7700, McGowan, Ruth, Nelson, Scott ORCID logoORCID: https://orcid.org/0000-0002-9099-3047 and Pell, Jill P. ORCID logoORCID: https://orcid.org/0000-0002-8898-7035 (2016) Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies. PLoS ONE, 11(12), e0166909. (doi: 10.1371/journal.pone.0166909) (PMID:27907018) (PMCID:PMC5131975)

Gazdagh, Gabriella, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, Ahmed, S. Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 and McGowan, Ruth (2016) Novel genetic associations and range of phenotypes in children with disorders of sex development and neurodevelopment: insights from the deciphering developmental disorders study. Sexual Development, 10(3), pp. 130-135. (doi: 10.1159/000447958) (PMID:27598577) (PMCID:PMC5079067)

2012

McGowan, Ruth, Tydeman, G.T., Shaprio, D.S., Morrison, N.M., Logan, S.L., Balen, A.B., Ahmed, F.A., Deeny, M.D., Tolmie, J.T. and Tobias, E.S.T. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

This list was generated on Sun Jun 15 19:26:44 2025 BST.
Jump to: Articles
Number of items: 18.

Articles

Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)

Lucas-Herald, A. K. et al. (2024) Gonadal function in boys with bilateral undescended testes. Journal of the Endocrine Society, 8(2), bvad153. (doi: 10.1210/jendso/bvad153) (PMID:38205164) (PMCID:PMC10777671)

Hocking, L. J. et al. (2023) Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European Journal of Human Genetics, 31(2), pp. 231-238. (doi: 10.1038/s41431-022-01226-3) (PMID:36474026) (PMCID:PMC9905562)

Ahmed, S. Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549, Alimusina, Malika, Batista, Rafael L., Domenice, Sorahia, Gomes, Nathalia Lisboa, McGowan, Ruth, Patjamontri, Supitcha and Mendonca, Berenice B. (2022) The use of genetics for reaching a diagnosis in XY DSD. Sexual Development, 16(2-3), pp. 207-224. (doi: 10.1159/000524881) (PMID:35636390)

Ahmed, S. F. et al. (2021) Society for Endocrinology UK guidance on the initial evaluation of a suspected difference or disorder of sex development (DSD) (Revised 2021). Clinical Endocrinology, 95(6), pp. 818-840. (doi: 10.1111/cen.14528) (PMID:34031907)

Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)

Hughes-Mccormack, Laura Anne, McGowan, Ruth, Pell, Jill P. ORCID logoORCID: https://orcid.org/0000-0002-8898-7035, Mackay, Daniel ORCID logoORCID: https://orcid.org/0000-0001-5381-7098, Henderson, Angela ORCID logoORCID: https://orcid.org/0000-0002-6146-3477, O'Leary, Lisa and Cooper, Sally-Ann ORCID logoORCID: https://orcid.org/0000-0001-6054-7700 (2020) Birth incidence, deaths, and hospitalisation of children and young people with Down syndrome, 1990-2015: birth cohort study. BMJ Open, 10, e033770. (doi: 10.1136/bmjopen-2019-033770) (PMID:32241786)

Gazdagh, Gabriella E., Wang, Cunyi, McGowan, Ruth, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2019) Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. Clinical Dysmorphology, 28(3), pp. 112-117. (doi: 10.1097/MCD.0000000000000275) (PMID:30921090)

Alimussina, Malika, Diver, Louise A., McNeilly, Jane D., Lucas-Herald, Angela K. ORCID logoORCID: https://orcid.org/0000-0003-2662-1684, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, McGowan, Ruth and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2018) Phenotypic and genetic assessment of boys with a suspected XY disorder of sex development. Hormone Research in Paediatrics, 90(Sup 1), p. 550. (doi: 10.1159/000492307)

Gazdagh, Gabriella, McGowan, Ruth, Ahmed, Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549, DDD Study and Tobias, Edward ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 (2018) Exomic sequencing uncovers novel genetic associations for Deciphering Developmental Disorders (DDD) study participants with hypospadias, cardiovascular and neurodevelopmental abnormalities. Hormone Research in Paediatrics, 90(Sup 1), p. 51. (doi: 10.1159/000492307)

Alimussina, Malika, Diver, Louise Ann, McGowan, Ruth and Ahmed, Syed Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2018) Genetic testing of XY newborns with a suspected disorder of sex development. Current Opinion in Pediatrics, 30(4), pp. 548-557. (doi: 10.1097/MOP.0000000000000644) (PMID:29782383)

Nixon, R., Cerqueira, V., Kyriakou, A., Lucas-Herald, A. ORCID logoORCID: https://orcid.org/0000-0003-2662-1684, McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, McGowan, R. and Ahmed, S.F. ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2017) Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human Reproduction, 32(10), pp. 2130-2137. (doi: 10.1093/humrep/dex280) (PMID:28938747) (PMCID:PMC5850224)

McLeod, Karen A., Fern, Eileen, Clements, Fiona and McGowan, Ruth (2017) Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death. Cardiology in the Young, 27(7), pp. 1271-1279. (doi: 10.1017/S1047951117000026) (PMID:28606196)

Alhomaidah, D., McGowan, R. and Ahmed, S.F. ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 (2017) The current state of diagnostic genetics for conditions affecting sex development. Clinical Genetics, 91(2), pp. 157-162. (doi: 10.1111/cge.12912) (PMID:28127758)

Gordon, C. T. et al. (2017) De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics, 49, pp. 249-255. (doi: 10.1038/ng.3765) (PMID:28067911)

Jacobs, Myrthe, Cooper, Sally-Ann ORCID logoORCID: https://orcid.org/0000-0001-6054-7700, McGowan, Ruth, Nelson, Scott ORCID logoORCID: https://orcid.org/0000-0002-9099-3047 and Pell, Jill P. ORCID logoORCID: https://orcid.org/0000-0002-8898-7035 (2016) Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies. PLoS ONE, 11(12), e0166909. (doi: 10.1371/journal.pone.0166909) (PMID:27907018) (PMCID:PMC5131975)

Gazdagh, Gabriella, Tobias, Edward S. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695, Ahmed, S. Faisal ORCID logoORCID: https://orcid.org/0000-0003-0689-5549 and McGowan, Ruth (2016) Novel genetic associations and range of phenotypes in children with disorders of sex development and neurodevelopment: insights from the deciphering developmental disorders study. Sexual Development, 10(3), pp. 130-135. (doi: 10.1159/000447958) (PMID:27598577) (PMCID:PMC5079067)

McGowan, Ruth, Tydeman, G.T., Shaprio, D.S., Morrison, N.M., Logan, S.L., Balen, A.B., Ahmed, F.A., Deeny, M.D., Tolmie, J.T. and Tobias, E.S.T. ORCID logoORCID: https://orcid.org/0000-0003-2649-7695 (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

This list was generated on Sun Jun 15 19:26:44 2025 BST.

Research datasets

Jump to: 2020
Number of items: 1.

2020

Lucas-Herald, A. , Kyriakou, A., Alimussina, M., Guaragna-Filho, G., Diver, L., McGowan, R., Smith, K., Mcneilly, J. and Ahmed, S. F. (2020) Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With Suspected DSD. [Data Collection]

This list was generated on Sun Jun 15 21:23:06 2025 BST.