Brecht Guillemyn

DNA sample tracking for diagnostic exome sequencing : a 1-year experience

Peter Ceulemans (UGent) , Matthias De Smet (UGent) , Tom Sante (UGent) , Gertjan Wils (UGent) , Thalia Van Laethem (UGent) , Mauro Alessio Milazzo (UGent) , Jo Vandesompele (UGent) , Frauke Coppieters (UGent) , Steve Lefever (UGent) , Brecht Guillemyn (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.962-962

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Closing the gap : overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de Sompele (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , Brecht Guillemyn (UGent) , Kathleen Claes (UGent) , Kim De Leeneer (UGent) , Miriam Bauwens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1332-1333

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Journal Article
A1
open access

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn (UGent) , Goran Mitulovic, Veronika Reiterer, Margot Haun, Michaela M. Mayr, et al.

(2023) EMBO MOLECULAR MEDICINE. 15(4).

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Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Andy Willaert (UGent) , Peter Byers (UGent) , Paul Coucke (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.394-394

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Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele (UGent) , Caroline Van Cauwenbergh, Marjolein Carron, Alfredo Dueñas Rey, Frauke Coppieters (UGent) , Toon Rosseel (UGent) , Hong Tran, Robrecht Cannoodt (UGent) , Thalia Van Laethem (UGent) , Brecht Guillemyn (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71

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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Andy Willaert (UGent) , Riet De Rycke (UGent) , Peter H. Byers, et al.

(2023) JOURNAL OF BONE AND MINERAL RESEARCH. 38(11). p.1718-1730

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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

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

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

(2022) International Zebrafish Conference (IZFS) 2022, Abstracts.

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Conference Paper
C3
open access

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

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

(2022) Joint BeSHG / NVHG meeting 2022, Abstracts.

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Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Thao Tran Thao Tran, Rachel Keller, Brecht Guillemyn (UGent) , Melanie Pepin, Jane Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169

Academic Bibliography

Brecht Guillemyn

DNA sample tracking for diagnostic exome sequencing : a 1-year experience

Closing the gap : overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

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

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

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