Ghent University Academic Bibliography

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SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Xue-Yan Duan, Dong-chuan Guo, Ellen S Regalado, Hong Shen, Joseph S Coselli, Anthony L Estrera, Hazim J Safi, Michael J Bamshad, Deborah A Nickerson, Scott A LeMaire, et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(7). p.1054-1060
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- Journal Article
- A1
- open access
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Mario Van Poucke (UGent) , Kimberley Stee, Laurien Sonck (UGent) , Emmelie Stock (UGent) , Leslie Bosseler, Jo Van Dorpe (UGent) , Filip Van Nieuwerburgh (UGent) , Dieter Deforce (UGent) , Luc Peelman (UGent) , Luc Van Ham (UGent) , et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(10). p.1561-1568
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- Conference Paper
- C3
Two novel probands with Myhre syndrome identified through WES

Ilse Meerschaut (UGent) , Aude Beyens (UGent) , Wouter Steyaert (UGent) , Riet De Rycke (UGent) , Björn Menten (UGent) , Katrien Bonte (UGent) , Tine De Backer (UGent) , Sandra Janssens (UGent) , Fransiska Malfait (UGent) , Joseph Panzer (UGent) , et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.118-118
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- Conference Paper
- C3
- open access
Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van Gils (UGent) , Andy Willaert (UGent) , Eva De Vilder (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.93-93
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- Conference Paper
- C3
- open access
Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Shana Verschuere (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(2). p.1269-1270
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- Conference Paper
- C3
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.54-54
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- Conference Paper
- C3
Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet Wieme (UGent) , Frederik Berrevoet (UGent) , Aude Vanlander (UGent) , Jo Van Dorpe (UGent) , Anne Hoorens (UGent) , Malaïka Van Der Linden (UGent) , Bram Parton (UGent) , Jurgen Van Limmen (UGent) , Ann De Bruyne (UGent) , Marc De Man (UGent) , et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(suppl. 2). p.1593-1594
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- Conference Paper
- C3
Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet Wieme (UGent) , Toon Rosseel (UGent) , Bram Parton (UGent) , Bettina Blaumeiser, Sabine Tejpar, Bruce Poppe (UGent) , Kim De Leeneer (UGent) and Kathleen Claes (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(2). p.1593-1593
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A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Tom Schipper (UGent) , Mario Van Poucke (UGent) , Laurien Sonck (UGent) , Pascale Smets (UGent) , Richard Ducatelle (UGent) , Bart Broeckx (UGent) and Luc Peelman (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(11). p.1724-1730
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- Conference Paper
- C3
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens (UGent) , Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43

Academic Bibliography

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Two novel probands with Myhre syndrome identified through WES

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

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