Jolanta Wierzba

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 94 citations · Full text

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 73 citations · Full text

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

Jiong Yan, Gulam Mustafa Saifi, Tomasz H. Wierzba et al. · American Journal of Medical Genetics Part A · 2006 · 67 citations

Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18

Paweł Stankiewicz, Izabela Brożek, Zofia Hélias‐Rodzewicz et al. · American Journal of Medical Genetics · 2001 · 60 citations