Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Brecht Guillemyn

Ghent University Hospital

ORCID iD: 0000-0001-7194-6651

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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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- Conference Paper
- C3
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
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- PhD Thesis
Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht Guillemyn (UGent)

(2022)
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- Journal Article
- A2
- open access
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

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

(2021) HUMAN GENETICS AND GENOMICS ADVANCES. 2(4).
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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization

Brecht Guillemyn (UGent) , Sheela Nampoothiri, Delfien Syx (UGent) , Fransiska Malfait (UGent) and Sofie Symoens (UGent)

(2021) JBMR PLUS. 5(3).
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- Journal Article
- A1
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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Delfien Syx (UGent) , Yoshihiro Ishikawa, Jan Gebauer, Sergei P. Boudko, Brecht Guillemyn (UGent) , Tim Van Damme (UGent) , Sanne D'hondt (UGent) , Sofie Symoens (UGent) , Sheela Nampoothiri, Douglas B. Gould, et al.

(2021) PLOS GENETICS. 17(2).
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- Miscellaneous
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van Damme (UGent) , Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn (UGent) , Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 107(2). p.374-374
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- Conference Paper
- C3
Lack of bone mineralization in a TANGO1 deficient patient

Brecht Guillemyn (UGent) , S. Nampoothiri, O. Foresti, I. Raote, V. Malhotra, Fransiska Malfait (UGent) and Sofie Symoens (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 28(Supplement 1). p.254-255

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