Ruth McGowan
Queen Elizabeth University Hospital(GB)
Publications by Year
Research Areas
Sexual Differentiation and Disorders, Genomics and Rare Diseases, Urological Disorders and Treatments, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome(2011)277 cited
- → 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 1303 ‘DSDnet’(2018)162 cited
- → ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder(2017)137 cited
- → De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development(2017)132 cited
- → Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)(2021)100 cited
- → The current state of diagnostic genetics for conditions affecting sex development(2016)91 cited
- →