Ghent University Academic Bibliography

A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut (UGent) , Shana De Coninck (UGent) , Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE.

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE.

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Journal Article
A1
open access

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens (UGent) , Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771

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Journal Article
A1
open access

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1751-1760

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory Costain, Bert Callewaert (UGent) , Heinz Gabriel, Tiong Y Tan, Susan Walker, John Christodoulou, Tamas Lazar, Björn Menten (UGent) , Julia Orkin, Simon Sadedin, et al.

(2019) GENETICS IN MEDICINE. 21(4). p.1021-1026

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Journal Article
A1
open access

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, et al.

(2019) GENETICS IN MEDICINE. 21(4). p.867-876

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Journal Article
A1
open access

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van De Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329

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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, Manou Sommen, Umut Altunoglu, Mieke Wesdorp, Matthias Beyens, Erik Fransen, Abdul Nasir, Geert Vandeweyer, et al.

(2019) GENETICS IN MEDICINE. 21(5). p.1199-1208

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Journal Article
A1
open access

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213

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Journal Article
A1
open access

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

Sanne D'hondt (UGent) , Tim Van Damme (UGent) and Fransiska Malfait (UGent)

(2018) GENETICS IN MEDICINE. 20(6). p.562-573

Academic Bibliography

A clinical scoring system for congenital contractural arachnodactyly

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

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