Ghent University Academic Bibliography

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CRISPR-SID : identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Thomas Naert, Dieter Tulkens (UGent) , Tom Van Nieuwenhuysen (UGent) , Joanna Przybyl, Suzan Demuynck (UGent) , Matt van de Rijn, Mushriq Al-Jazrawe, Benjamin A. Alman, Paul Coucke (UGent) , Kim De Leeneer (UGent) , et al.

(2021) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 118(47).
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Lore Pottie (UGent) , Wouter Van Gool (UGent) , Michiel Vanhooydonck (UGent) , Franz-Georg Hanisch, Geert Goeminne (UGent) , Andreja Rajkovic (UGent) , Paul Coucke (UGent) , Patrick Sips (UGent) and Bert Callewaert (UGent)

(2021) PLOS GENETICS. 17(6).
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Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño Mosquera (UGent) , Felke Steijns, Tjorven Audenaert (UGent) , Ilse Meerschaut (UGent) , Anne De Paepe (UGent) , Wouter Steyaert (UGent) , Sofie Symoens (UGent) , Paul Coucke (UGent) , Bert Callewaert (UGent) , Marjolijn Renard (UGent) , et al.

(2018) CIRCULATION-GENOMIC AND PRECISION MEDICINE. 11.
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte Gistelinck (UGent) , Ronald Y Kwon, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips (UGent) , Brecht Guillemyn (UGent) , et al.

(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Charlotte Gistelinck (UGent) , Paul Eckhard Witten (UGent) , Ann Huysseune (UGent) , Sofie Symoens (UGent) , Fransiska Malfait (UGent) , Daria Larionova (UGent) , Pascal Simoens (UGent) , Manuel Dierick (UGent) , Luc Van Hoorebeke (UGent) , Anne De Paepe (UGent) , et al.

(2016) JOURNAL OF BONE AND MINERAL RESEARCH. 31(11). p.1930-1942
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A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

Isabelle Schrauwen, Manou Sommen, Jason J Corneveaux, Rebecca A Reiman, Nicole J Hackett, Charlotte Claes, Kathleen Claes (UGent) , Maria Bitner-Glindzicz, Paul Coucke (UGent) , Guy Van Camp, et al.

(2013) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 161A(1). p.145-152
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First report of the genetic background of Marfan syndrome in Polish patients

Ewa Wypasek, Daniel P Potaczek, Renata Stapor, Paul Coucke (UGent) , Julie De Backer (UGent) , Anne De Paepe (UGent) and Anetta Undas

(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(11). p.646-648
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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy Willaert (UGent) , Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Kris Gevaert (UGent) , H. Kayserili, A. Megarbane, Geert Mortier (UGent) , J. G. Leroy, Paul Coucke (UGent) and Anne De Paepe (UGent)

(2009) JOURNAL OF MEDICAL GENETICS. 46(4). p.233-241
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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

L Faivre, G Collod-Beroud, Bart Loeys (UGent) , A Child, C Binquet, E Gautier, Bert Callewaert (UGent) , E Arbustini, K Mayer, M Arslan-Kirchner, et al.

(2007) AMERICAN JOURNAL OF HUMAN GENETICS. 81(3). p.454-466

Academic Bibliography

CRISPR-SID : identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

First report of the genetic background of Marfan syndrome in Polish patients

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

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