Martina Simandlová

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

Sérgio B. Sousa, Dagan Jenkins, Estelle Chanudet et al. · Nature Genetics · 2013 · 106 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

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

Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Thatjana Gardeitchik et al. · Molecular Genetics and Metabolism · 2013 · 71 citations

Biology, Genetic Disorder, Genetics +6

A patient with de novo 0.45 Mb deletion of 2p16.1: The role of <i>BCL11A</i>, <i>PAPOLG</i>, <i>REL</i>, and <i>FLJ16341</i> in the 2p15‐p16.1 microdeletion syndrome

Miroslava Hančárová, Martina Simandlová, Jana Drabova et al. · American Journal of Medical Genetics Part A · 2013 · 37 citations · Full text

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

Markéta Vlčková, Martina Simandlová, Pavel Zimmermann et al. · European Journal of Medical Genetics · 2015 · 34 citations

Mid-exon 18, Mendelian Disorder, Genetic Disorder +11

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

Jana Paděrová, A. Holubová, Martina Simandlová et al. · Clinical Genetics · 2016 · 21 citations

Array Cgh, Genetics, Genetic Epidemiology +21