Concepedia

Author

Jana Behunova

Medical University of ViennaORCID

Also Known As

J Behunová, J. Behunova, Jana Behunova, Martina Witsch-Baumgartner, Witsch-Baumgartner, Martina

27

Publications

274

Citations

9

H-Index

16

Concepts

All Affiliations

Medical University of ViennaComenius University BratislavaUniversity of Pavol Jozef ŠafárikColumbia UniversityJohannes Kepler University of Linz
JB

About

Jana Behunova is an author at Medical University of Vienna specializing in medicine, inherited metabolic disease, and clinical genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

148

2

Molecular Genetics

2

2

127

3

Pathology

2

2

37

4

Genetic Medicine

1

1

16

5

Brain Development

1

1

111

Jana Behunova

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8

Publications

221

Citations

8

H-Index

YearCitations

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders,

The American Journal of Human Genetics

2016

111

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Katharina Schoner, Martina Witsch‐Baumgartner, Jana Behunova,

Birth Defects Research

2019

21

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Dóra Nagy, Sarah Verheyen, Kristen Wigby,

Genes

2022

19

<i>Methylenetetrahydrofolate reductase</i> gene polymorphisms and neural tube defects epidemiology in the Slovak population

Jana Behunova, Lucia Klimčáková, Eva Zavadilikova,

Birth Defects Research Part A Clinical and Molecular Teratology

2010

16

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2

Lenka Šlachtová, Ond⊘řej Šeda, Jana Behunova,

European Journal of Human Genetics

2015

16

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Jana Behunova, Maria Gerykova Bujalkova, Gabriel Gras,

Molecular Syndromology

2018

16

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

Mateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner,

European Journal of Human Genetics

2022

12

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

J Šalagovič, Lucia Klimčáková, Marianna Zabavnikova,

Biomedical Papers

2017

10

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