Justyna A. Karolak

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

Michał Kabza, Justyna A. Karolak, Małgorzata Rydzanicz et al. · European Journal of Human Genetics · 2017 · 108 citations · Full text

Core Elements, Developmental Biology, Ophthalmology +7

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

Marta Czugala, Justyna A. Karolak, Dorota Nowak et al. · European Journal of Human Genetics · 2011 · 82 citations · Full text

Novel Mutation, Allelic Variant, Genetic Disorder +10

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Tomasz Gambin, Qian Liu, Justyna A. Karolak et al. · Genetics in Medicine · 2020 · 62 citations · Full text

Biology, Mendelian Disorder, Molecular Ecology +14

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio et al. · American Journal of Medical Genetics Part A · 2011 · 48 citations · Full text