Julia Bijok

Prof. Julia Bijok


Research Focus & Metrics

Academic Career Length

14Years (2013-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

View All Publications
8 December 2016 in Journal of Obstetrics and Gynaecology Research
Verified
Journal Article
Closed access
PDF file
Diana MassalskaDiana Massalska
Diana Massalska
JZJanusz Grzegorz Zimowski
Janusz Grzegorz Zimowski
Julia BijokJulia Bijok
Julia Bijok
MPMagdalena Pawelec
Magdalena Pawelec
MCMałgorzata Czubak‐Barlik
Małgorzata Czubak‐Barlik
TRTomasz Roszkowski
Tomasz Roszkowski

2 June 2016 in Clinical Genetics
Verified
Journal Article
Closed access
PDF file
Diana MassalskaDiana Massalska
Diana Massalska
JZJanusz Grzegorz Zimowski
Janusz Grzegorz Zimowski
Julia BijokJulia Bijok
Julia Bijok
AKAnna Kucińska‐Chahwan
Anna Kucińska‐Chahwan
AŁAnna Łusakowska
Anna Łusakowska
TRTomasz Roszkowski
Tomasz Roszkowski

10 July 2017 in Prenatal Diagnosis
Verified
Journal Article
Closed access
PDF file
Diana MassalskaDiana Massalska
Diana Massalska
Julia BijokJulia Bijok
Julia Bijok
AIAlicja Ilnicka
Alicja Ilnicka
GJGrzegorz Jakiel
Grzegorz Jakiel
TRTomasz Roszkowski
Tomasz Roszkowski

1 July 2021 in Ultrasound in Obstetrics & Gynecology
Verified
Journal Article
Closed access
PDF file
AKAnna Kucinska-Chahwan
Anna Kucinska-Chahwan
TRT. Roszkowski
T. Roszkowski
BNB. Nowakowska
B. Nowakowska
MGMaciej Geremek
Maciej Geremek
MPM. Paczkowska
M. Paczkowska
Diana MassalskaDiana Massalska
Diana Massalska

3 September 2015 in Prenatal Diagnosis
Verified
Journal Article
Closed access
PDF file
AKAnna Kucinska-Chahwan
Anna Kucinska-Chahwan
APAnna Posiewka
Anna Posiewka
Julia BijokJulia Bijok
Julia Bijok
GJGrzegorz Jakiel
Grzegorz Jakiel
TRTomasz Roszkowski
Tomasz Roszkowski

21 April 2022 in Genes
Verified
Journal Article
Open access
PDF file
AKAnna Kucinska-Chahwan
Anna Kucinska-Chahwan
MGMaciej Geremek
Maciej Geremek
TRTomasz Roszkowski
Tomasz Roszkowski
Julia BijokJulia Bijok
Julia Bijok
Diana MassalskaDiana Massalska
Diana Massalska
BNBeata Nowakowska
Beata Nowakowska
Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.