Martina Simandlová
Charles University(CZ)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics
Most-Cited Works
- → Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome(2013)107 cited
- → Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa(2013)71 cited
- → Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes(2012)43 cited
- → A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15‐p16.1 microdeletion syndrome(2013)37 cited
- → A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes(2015)34 cited
- → Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring(2016)21 cited
- → Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes(2020)20 cited
- → Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1(2018)17 cited
- → Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23(2014)17 cited
- → Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis‐ptosis‐epicanthus inversus syndrome(2016)14 cited