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Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.

Journal article

Vogiatzi A. et al, (2023), Int J Mol Sci, 24

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Journal article

Zschocke J. et al, (2023), Nat Rev Genet

Gregor Mendel and the concepts of dominance and recessiveness.

Journal article

Zschocke J. et al, (2022), Nat Rev Genet

The contribution of X-linked coding variation to severe developmental disorders

Journal article

Martin HC. et al, (2021), Nature Communications, 12

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal article

100,000 Genomes Project Pilot Investigators None. et al, (2021), N Engl J Med, 385, 1868 - 1880

The developing mouse coronal suture at single-cell resolution.

Journal article

Farmer DT. et al, (2021), Nat Commun, 12

A biallelic GINS2 variant, p.(Arg114Leu), causes Meier-Gorlin syndrome with craniosynostosis

Journal article

WILKIE A. et al, (2021), Journal of Medical Genetics

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