M. Al-Bughaili

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

S. Mundlos, U. Kornak, M. Amling, 2018, Osteoporosis International.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

S. Mundlos, M. Spielmann, T. Neuhann, 2016, Journal of Human Genetics.