prof. dr. Paul Coucke

Journal Article

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock (UGent) , Laura Muiño Mosquera (UGent) , Katya De Groote (UGent) , Kristof Vandekerckhove (UGent) , Joseph Panzer (UGent) , Ellen Roets (UGent) , Björn Menten (UGent) , Sofie Symoens (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS.

Add to list

Miscellaneous

Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant

Michiel Vanhooydonck (UGent) , Sophie Debaenst (UGent) , Eva Vanbelleghem (UGent) , Hanna De Saffel (UGent) , Delfien Syx (UGent) , Patrick Sips (UGent) , Paul Coucke (UGent) , Andy Willaert (UGent) and Bert Callewaert (UGent)

(2025) BioRxiv.

Add to list

Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example

Michiel Vanhooydonck (UGent) , Sophie Debaenst (UGent) , Eva Vanbelleghem (UGent) , Hanna De Saffel (UGent) , Delfien Syx (UGent) , Andy Willaert (UGent) , Patrick Sips (UGent) , Paul Coucke (UGent) and Bert Callewaert (UGent)

(2025) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2025, Abstracts.

Add to list

Journal Article
A1
open access

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Lisa Dangreau (UGent) , Mohammad Jakir Hosen (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2024) CURRENT ISSUES IN MOLECULAR BIOLOGY. 46(9). p.9998-10007

Add to list

Journal Article
A1
open access

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Hanna De Saffel (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Jan Willem Bek (UGent) , David M Hudson, Filip Van Nieuwerburgh (UGent) , Yannick Gansemans (UGent) , Iván Josipovic (UGent) , et al.

(2024) JOURNAL OF BONE AND MINERAL RESEARCH. 40(1). p.154-166

Add to list

Journal Article
A2
open access

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

Sophie Debaenst (UGent) , Tamara Jarayseh (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Matthieu Boone (UGent) , Iván Josipovic (UGent) , Pierre Kibleur (UGent) , Ronald Y Kwon, Paul Coucke (UGent) and Andy Willaert (UGent)

(2024) ELIFE. 13.

Add to list

An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome

Lotte Van Den Heuvel (UGent) , Silke Peeters, Josephina Meester, Paul Coucke (UGent) and Bart Loeys

(2024) DRUG DISCOVERY TODAY. 29(7). p.1-12

Add to list

Journal Article
A1
open access

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

Laurens Léger (UGent) , Jeffrey Aalders (UGent) , Nina Heymans (UGent) , Kiara Van Acker-Verberckt (UGent) , Léa De Bleeckere, Paul Coucke (UGent) , Björn Menten (UGent) , Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, et al.

(2024) STEM CELL RESEARCH. 81.

Add to list

Journal Article
A1
open access

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Arantxa Cardona Barberán (UGent) , Ramesh Reddy Guggilla, Cora Colenbier, Emma Van der Velden, Andrei Rybouchkin (UGent) , Dominic Stoop (UGent) , Luc Leybaert (UGent) , Paul Coucke (UGent) , Sofie Symoens (UGent) , Annekatrien Boel (UGent) , et al.

(2024) HUMAN REPRODUCTION OPEN. 2024(4).

Add to list

Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Ariane Van Tongerloo (UGent) , Hannah Verdin (UGent) , Wouter Steyaert (UGent) , Paul Coucke (UGent) and Sandra Janssens (UGent)

(2024) JOURNAL OF GENETIC COUNSELING. 34(1).

Academic Bibliography

prof. dr. Paul Coucke

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant

Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Contents

Support

Contact

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant

Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C&gt;T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing