Search results (89)
« Back to Publicationssomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Journal article
Brand MR. et al, (2025), Am J Med Genet C Semin Med Genet
Expectations for papers performing Mendelian randomization analyses.
Journal article
Williams SM. et al, (2025), PLoS Genet, 21
Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling.
Journal article
Kay AC. et al, (2025), J Genet Couns, 34
le for the male germline in the expansion of the mammalian brain
Preprint
Bush S. and Goriely A., (2025)
Onwards! Open science and the (PLOS) genetics community.
Journal article
Dudley AM. et al, (2024), PLoS Genet, 20
Can the male germline offer insight into mammalian brain size expansion?
Journal article
Bush SJ. and Goriely A., (2024), Andrology
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Journal article
Wood KA. et al, (2024), Am J Hum Genet, 111, 1953 - 1969
Menopause age shaped by genes that influence mutation risk.
Journal article
Goriely A., (2024), Nature, 633, 530 - 531
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840
New analysis of atypical spermatocytic tumours reveals extensive heterogeneity and plasticity of germ cell tumours†.
Journal article
Rajpert-De Meyts E. et al, (2024), J Pathol, 263, 1 - 4
dult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature.
Journal article
Bush SJ. et al, (2024), Cells, 13
Human spermatogonial stem cells retain states with a foetal-like signature
Preprint
Bush S. et al, (2024)