Concepedia

Justyna A. Karolak

JA

Statistics

Publications

35

Citations

1.3K

H-Index

25

Active since

2011

Affiliations

Poznan University of Medical Sciences(Current)

Polish Academy of Sciences

Institute of Human Genetics

Baylor College of Medicine

Medical University of Warsaw

Justyna A. Karolak is an author at Poznan University of Medical Sciences specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2011–2024

35

Publications

35

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 · 183 citations · Full text

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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 · 110 citations

, , +17

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

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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 · 63 citations · Full text

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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

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