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Publications

Recent publications published by researchers at the MRC WIMM.

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Brand MR. et al, (2025), Am J Med Genet C Semin Med Genet

Making it Personal - play script

Kay A. et al, (2025), 0 - 27

Expectations for papers performing Mendelian randomization analyses.

Williams SM. et al, (2025), PLoS Genet, 21

Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling.

Kay AC. et al, (2025), J Genet Couns, 34

A role for the male germline in the expansion of the mammalian brain

Bush S. and Goriely A., (2025)

Over-transmission of NF1 mutant alleles in Neurofibromatosis type 1

Pei Y. et al, (2025)

Onwards! Open science and the (PLOS) genetics community.

Dudley AM. et al, (2024), PLoS Genet, 20

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA. et al, (2024), Am J Hum Genet, 111, 1953 - 1969

Menopause age shaped by genes that influence mutation risk.

Goriely A., (2024), Nature, 633, 530 - 531

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature, 632, 832 - 840

New analysis of atypical spermatocytic tumours reveals extensive heterogeneity and plasticity of germ cell tumours†.

Rajpert-De Meyts E. et al, (2024), J Pathol, 263, 1 - 4

Adult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature.

Bush SJ. et al, (2024), Cells, 13

Germline mosaicism and transmission risk of 'apparently' de novo mutations

Goriely A., (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 899 - 899

Human spermatogonial stem cells retain states with a foetal-like signature

Bush S. et al, (2024)

SMAD4-associated Myhre-syndrome mutations are under positive selection in the male germline

Wood K. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 4 - 4

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners.

Kay AC. et al, (2023), J Med Genet, 60, 925 - 931

Fine-tuning germline mutation rates across evolution.

Bush SJ. and Goriely A., (2023), Trends Genet, 39, 598 - 599

The Impact of Paternal Age on New Mutations and Disease in the Next Generation

Wood KA. and Goriely A., (2023), Obstetrical and Gynecological Survey, 78, 329 - 331

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M. et al, (2023), Nat Commun, 14

Can patients meaningfully contribute to genomics research?

Mayet H. et al, (2023), BRITISH JOURNAL OF HAEMATOLOGY, 201, 77 - 78

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