Academic Bibliography

Search 200 years of publications by Ghent University researchers.

prof. Bruce Poppe

ORCID iD: 0000-0002-8504-690X

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- A1
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Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans (UGent) , Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) NEUROLOGY-GENETICS. 9(3).
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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- Conference Paper
- C3
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80
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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
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Prolonged recombinant pregnancy hormone use in BRCA1 and BRCA2 mutation carriers

Herman Depypere (UGent) , Yanrong Su, Nhi Dang, Bruce Poppe (UGent) , Frank Stanczyk, Jaak Janssens and Jose Russo

(2021) EUROPEAN JOURNAL OF CANCER PREVENTION. 30(3). p.195-203
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Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.

(2021) CANCERS. 13(17).
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- Conference Paper
- C3
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.

(2021) OncoDot.3 symposium, Abstracts.
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O'Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, et al.

(2021) NATURE COMMUNICATIONS. 12(1).
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- Miscellaneous
- open access
Tissue is the issue : when a second biopsy reveals the true diagnosis

Anne-Marie Bogaert, Anne Hoorens (UGent) , Marleen Praet, Jo Van Dorpe (UGent) , Bruce Poppe (UGent) and Marie-Angélique De Scheerder (UGent)

(2021) CLINICAL KIDNEY JOURNAL. 14(1). p.429-431
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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, Kathleen Claes (UGent) , Bruce Poppe (UGent) and Robin de Putter (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS.

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