Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="van den Ende, Jenneke" or (type any "bookEditor journalEditor issueEditor" and editor="va...

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
Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet Wieme (UGent) , Toon Rosseel (UGent) , Bettina Blaumeiser, Jenneke van den Ende, Sabine Tejpar, Bruce Poppe (UGent) , Kim De Leeneer (UGent) and Kathleen Claes (UGent)

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
Add to list
- Conference Paper
- C3
Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet Wieme (UGent) , Toon Rosseel (UGent) , Bettina Blaumeiser, Jenneke van den Ende, Sabine Tejpar, Bruce Poppe (UGent) , Kim De Leeneer (UGent) and Kathleen Claes (UGent)

(2018) OncoPoint, 6th Research seminar, Abstracts.
Add to list
- Conference Paper
- C3
Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet Wieme (UGent) , Toon Rosseel (UGent) , Bettina Blaumeiser, Jenneke van den Ende, Sabine Tejpar, Bruce Poppe (UGent) , Kim De Leeneer (UGent) and Kathleen Claes (UGent)

(2018) Research Day & Student Research Symposium.
Add to list
- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause 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.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.
Add to list
- Journal Article
- A1
- open access
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Annelot Baert (UGent) , Julie Depuydt (UGent) , Tom Van Maerken (UGent) , Bruce Poppe (UGent) , Fransiska Malfait (UGent) , Katrien Storm, Jenneke van den Ende, Tim Van Damme (UGent) , Sylvia De Nobele (UGent) , Gianpaolo Perletti (UGent) , et al.

(2016) BREAST CANCER RESEARCH. 18.
Add to list
DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer (UGent) , Sandra Janssens (UGent) , Kathleen Claes (UGent) , et al.

(2016) HUMAN MUTATION. 37(8). p.812-819
Add to list
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes (UGent) , Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor-Felix Mautner, David N Cooper, et al.

(2012) HUMAN MUTATION. 33(11). p.1599-1609
Add to list
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haene (UGent) , Françoise Meire, Ilse Claerhout (UGent) , Hester Y Kroes, Astrid Plomp, Yvonne H Arens, Thomy de Ravel, Ingele Casteels, Sarah De Jaegere (UGent) , Sally Hooghe (UGent) , et al.

(2011) INVESTIGATIVE OPHTHALMOLOGY. 52(1). p.324-333
Add to list
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien Hoornaert (UGent) , Inge Vereecke (UGent) , Chantal Dewinter (UGent) , Thomas Rosenberg, Frits A Beemer, Juliaan Leroy (UGent) , Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, et al.

(2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(8). p.872-880

← Previous

Academic Bibliography

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

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Contents

Support

Contact