S. Mann

Chromosomal instability in women with primary ovarian insufficiency

A. Rajkovic, A. Zeleznik, M. Aarabi, 2018, Human reproduction.

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy

M. Sigman, N. C. Schanen, N. Dorrani, 2004, Human Genetics.

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders

U. Surti, A. Goldstein, Jie Hu, 2015, American journal of medical genetics. Part A.

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

A. Wilkie, David W. Johnson, S. Wall, 2000, European Journal of Human Genetics.