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. F. , Alimusina, M., Batista, R. L., Domenice, S., Gomes, N. L., McGowan, R., Patjamontri, S. and Mendonca, B. 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, L. A., McGowan, R., Pell, J. P. , Mackay, D. , Henderson, A. , O'Leary, L. and Cooper, S.-A. (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, G. E., Wang, C., McGowan, R., Tobias, E. S. and Ahmed, S. F. (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, M., Diver, L. A., McNeilly, J. D., Lucas-Herald, A. K. , Tobias, E. S. , McGowan, R. and Ahmed, S. F. (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, G., McGowan, R., Ahmed, F. , DDD Study, and Tobias, E. (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, M., Diver, L. A., McGowan, R. and Ahmed, S. F. (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. , McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. , McGowan, R. and Ahmed, S.F. (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, K. A., Fern, E., Clements, F. and McGowan, R. (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. (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, M., Cooper, S.-A. , McGowan, R., Nelson, S. and Pell, J. P. (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, G., Tobias, E. S. , Ahmed, S. F. and McGowan, R. (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, R., 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. (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

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. F. , Alimusina, M., Batista, R. L., Domenice, S., Gomes, N. L., McGowan, R., Patjamontri, S. and Mendonca, B. 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, L. A., McGowan, R., Pell, J. P. , Mackay, D. , Henderson, A. , O'Leary, L. and Cooper, S.-A. (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, G. E., Wang, C., McGowan, R., Tobias, E. S. and Ahmed, S. F. (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, M., Diver, L. A., McNeilly, J. D., Lucas-Herald, A. K. , Tobias, E. S. , McGowan, R. and Ahmed, S. F. (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, G., McGowan, R., Ahmed, F. , DDD Study, and Tobias, E. (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, M., Diver, L. A., McGowan, R. and Ahmed, S. F. (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. , McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. , McGowan, R. and Ahmed, S.F. (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, K. A., Fern, E., Clements, F. and McGowan, R. (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. (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, M., Cooper, S.-A. , McGowan, R., Nelson, S. and Pell, J. P. (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, G., Tobias, E. S. , Ahmed, S. F. and McGowan, R. (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, R., 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. (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),