D. Jenkins

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia

P. Sham, P. Tam, H. Mitchison, 2020, medRxiv.

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

L. Bicknell, D. Lefeber, Fokje S M Zijlstra, 2020, Journal of Human Genetics.

Expanding the phenotypic spectrum associated with DPF2: A new case report

L. Bicknell, G. Poke, D. Jenkins, 2019, American journal of medical genetics. Part A.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

E. Bongers, N. Pachter, J. Denecke, 2021, European Journal of Human Genetics.