Ghent University Academic Bibliography

Journal Article
A1
open access

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van Gils (UGent) , Justin Depauw, Paul Coucke (UGent) , Shari Aerts (UGent) , Shana Verschuere, Lukas Nollet (UGent) and Olivier Vanakker (UGent)

(2023) JOURNAL OF CLINICAL MEDICINE. 12(5).

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Journal Article
A1
open access

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas Clabout, Laurence Maes, Frederic Acke (UGent) , Wim Wuyts, Kristof Van Schil, Paul Coucke (UGent) , Sandra Janssens (UGent) and Els De Leenheer (UGent)

(2023) GENES. 14(1).

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Journal Article
A1
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Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Jeffrey Aalders (UGent) , Laurens Léger (UGent) , Anthony Demolder (UGent) , Laura Muiño Mosquera (UGent) , Paul Coucke (UGent) , Björn Menten (UGent) , Julie De Backer (UGent) and Jolanda van Hengel (UGent)

(2023) STEM CELL RESEARCH. 67.

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Conference Paper
C3
open access

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

Tamara Jarayseh (UGent) , Adelbert De Clercq (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Andy Willaert (UGent) and Paul Coucke (UGent)

(2023) JBMR PLUS. In JBMR Plus 7(S1).

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Journal Article
A1
open access

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

Tamara Jarayseh (UGent) , Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Delfien Syx (UGent) , Sofie Symoens (UGent) , Yannick Gansemans (UGent) , Filip Van Nieuwerburgh (UGent) , Sujatha Jagadeesh, Jayarekha Raja, et al.

(2023) HUMAN GENETICS. 142(3). p.457-476

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Conference Paper
C3
open access

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

Sophie Debaenst (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Lauren Sahd (UGent) , Paul Coucke (UGent) and Andy Willaert (UGent)

(2023) JBMR PLUS. In JBMR Plus 7(S1).

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Journal Article
A1
open access

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T >C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Jeffrey Aalders (UGent) , Laurens Léger (UGent) , Anthony Demolder (UGent) , Laura Muiño Mosquera (UGent) , Paul Coucke (UGent) , Björn Menten (UGent) , Julie De Backer (UGent) and Jolanda van Hengel (UGent)

(2023) STEM CELL RESEARCH. 67.

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Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI

Arantxa Cardona Barberán (UGent) , Annekatrien Boel (UGent) , Cora Colenbier, Emma Van der Velden, Dominic Stoop (UGent) , Paul Coucke (UGent) , Frauke Vanden Meerschaut (UGent) and Björn Heindryckx (UGent)

(2023) HUMAN REPRODUCTION. In Human Reproduction 38(Supplement 1). p.i538-i538

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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders

Noemi Castelluccio (UGent) , Ramesh Reddy Guggilla, Andrei Rybouchkin (UGent) , Dominic Stoop (UGent) , Sofie Symoens (UGent) , Paul Coucke (UGent) , Annekatrien Boel (UGent) and Björn Heindryckx (UGent)

(2023) HUMAN REPRODUCTION. In Human Reproduction 38(Supplement 1). p.i297-i297

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Journal Article
A1
open access

Zebrafish Tric-b is required for skeletal development and bone cells differentiation

Francesca Tonelli, Laura Leoni, Valentina Daponte, Roberta Gioia, Silvia Cotti (UGent) , Imke A. K. Fiedler, Daria Larionova (UGent) , Andy Willaert (UGent) , Paul Coucke (UGent) , Simona Villani, et al.

(2023) FRONTIERS IN ENDOCRINOLOGY. 14.

Academic Bibliography

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

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

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T >C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI

Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders

Zebrafish Tric-b is required for skeletal development and bone cells differentiation

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