Ghent University Academic Bibliography

Show Sort by

Your filters: cql: jcr.category exact "GENETICS & HEREDITY"

Add to list
- 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
Add to list
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
Add to list
- Journal Article
- A1
- open access
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haene (UGent) , Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme (UGent) , Sien Van Loo, Francisco Avila Cobos (UGent) , Karen Verboom (UGent) , Reut Eshel, Rawan Alatawna, Björn Menten (UGent) , et al.

(2019) HUMAN MOLECULAR GENETICS. 28(5). p.818-827
Add to list
- Journal Article
- A1
- open access
Boosting care and knowledge about hereditary cancer : European Reference Network on Genetic Tumour Risk Syndromes

Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, on behalf of ERN Genturis, Bruce Poppe (UGent) and Kathleen Claes (UGent)

(2019) FAMILIAL CANCER. 18(2). p.281-284
Add to list
- 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
Add to list
Long noncoding RNA expression profiling in cancer : challenges and opportunities

Lucia Lorenzi (UGent) , Francisco Avila Cobos (UGent) , Anneleen Decock (UGent) , Celine Everaert (UGent) , Hetty Helsmoortel (UGent) , Steve Lefever (UGent) , Karen Verboom (UGent) , Pieter-Jan Volders (UGent) , Franki Speleman (UGent) , Jo Vandesompele (UGent) , et al.

(2019) GENES CHROMOSOMES & CANCER. 58(4). p.191-199
Add to list
- 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
Add to list
- Journal Article
- A1
- open access
Overcoming challenges in variant calling : exploring sequence diversity in candidate genes for plant development in perennial ryegrass (Lolium perenne)

Elisabeth Veeckman (UGent) , Sabine Van Glabeke, Annelies Haegeman, Hilde Muylle, Frederik RD van Parijs, Stephen L Byrne, Torben Asp, Bruno Studer, Antje Rohde, Isabel Roldàn-Ruiz (UGent) , et al.

(2019) DNA RESEARCH. 26(1). p.1-12
Add to list
- 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
Add to list
- 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

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

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Boosting care and knowledge about hereditary cancer : European Reference Network on Genetic Tumour Risk Syndromes

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

Long noncoding RNA expression profiling in cancer : challenges and opportunities

Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

Overcoming challenges in variant calling : exploring sequence diversity in candidate genes for plant development in perennial ryegrass (Lolium perenne)

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

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

Contents

Support

Contact