Ghent University Academic Bibliography

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Eileen O. Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben, Muriel A. Adank, Simona Agata, Irene L. Andrulis, Hoda Anton-Culver, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30(3). p.349-362
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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans, on behalf of European Reference Network GENTURI and Kathleen Claes (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS.
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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, on behalf of European Reference Network GENTURI, on behalf of PHTS Guideline Dev Grp and Kathleen Claes (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS.
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- Conference Paper
- C3
Electrophysiological characterization of a Brugada syndrome SCN5A Belgian founder mutation in induced pluripotent stem cell cardiomyocytes

E. Simons, A. Nijak, B. Vandendriessche, D. Van de Sande, E. Sieliwonczyk, Alain J Labro (UGent) , D. Snyders, D. Schepers, B. Loeys and M. Alaerts

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. 28(Suppl. 1). p.260-260
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Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders

Kiana Mohajeri, Eva D'haene (UGent) , Rachita Yadav, Huiya Gu, Björn Menten (UGent) , Aviva Presser Aiden, Chelsea Lowther, Serkan Erdin, Erez Lieberman Aiden, James Gusella, et al.

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. 28(Suppl. 1). p.35-35
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Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude Beyens (UGent) , C. Adamo, E. Yilmaz Gulec, A. Gezdirici, P. Bonaldo, H. Bornaun, E. Brauchle, J. Brinckmann, W. P. Devine, B. Gangaram, et al.

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. 28(Suppl. 1). p.132-133
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- Conference Paper
- C3
Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

Laurentijn Tilleman (UGent) , Dieter Deforce (UGent) and Filip Van Nieuwerburgh (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.1029-1029
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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, 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
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The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype

Eva De Vilder (UGent) , L. Martin, G. Leftheriotis, Paul Coucke (UGent) , Anne De Paepe (UGent) , Filip Van Nieuwerburgh (UGent) and Olivier Vanakker (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(suppl. 1). p.124-125
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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, 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

Academic Bibliography

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Electrophysiological characterization of a Brugada syndrome SCN5A Belgian founder mutation in induced pluripotent stem cell cardiomyocytes

Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders

Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

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

The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype

Two novel probands with Myhre syndrome identified through WES

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