Martina Simandlová

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

Z. Sedlacek, A. Briand-Suleau, L. Tosca, 2014, Molecular Cytogenetics.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis‐ptosis‐epicanthus inversus syndrome

P. Lišková, A. Křepelová, M. Vlčková, 2016, Clinical & experimental ophthalmology.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

S. Mundlos, U. Kornak, P. Stanier, 2018, American journal of medical genetics. Part A.