Search results (92)
« Back to PublicationsCan It Happen Again? Using Co-Produced Theatre to Explore the Challenges Faced by Couples Considering Pregnancy After a De Novo Genetic Diagnosis in a Child.
Journal article
Kay A. et al, (2026), Health Expect, 29
Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.
Journal article
Pei Y. et al, (2026), Genet Med
The 9th International RASopathies Symposium.
Journal article
Castel P. et al, (2026), Am J Med Genet A
Autosomal 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
A spermatogonial perspective on 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