Katalin Szakszon

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

Laia Simó‐Riudalbas, Montserrat Pérez-Salvia, Fernando Setién et al. · Cancer Research · 2015 · 92 citations · Full text

Chromatin, Systems Biology, Point Mutations +15

<i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Davor Lessel, Fuki M. Hisama, Katalin Szakszon et al. · Human Mutation · 2015 · 60 citations · Full text

Developmental Anomaly, Werner Syndrome, Developmental Biology +14

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the<i>GAMT</i>Gene

Saadet Mercimek‐Mahmutoglu, Joseph Ndika, Warsha A. Kanhai et al. · Human Mutation · 2014 · 47 citations

Guanidinoacetate Methyltransferase Deficiency, Creatine Biosynthesis, Thirteen New Patients +20

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

Katalin Szakszon, Carmelo Salpietro, Naseebullah Kakar et al. · American Journal of Medical Genetics Part A · 2013 · 43 citations · Full text