Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Lore Pottie

Ghent University Hospital

ORCID iD: 0000-0001-5102-975X

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- Journal Article
- A2
- open access
Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Yoni Aelvoet (UGent) , PATRICK VERLOO (UGent) , Arnaud Vanlander (UGent) , Saskia Vande Velde (UGent) , Stephanie Van Biervliet (UGent) , Pauline De Bruyne (UGent) , Levi Hoste (UGent) , Annelies Dheedene (UGent) , Lore Pottie (UGent) , Anne Hoorens (UGent) , et al.

(2025) JIMD REPORTS. 66(3).
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Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice

Aude Beyens (UGent) , Jozefien Weytens (UGent) , Lore Pottie (UGent) , Sofie De Meulemeester, Karolien Aelbrecht (UGent) , Silke De Feyter (UGent) , Sofie De Schepper (UGent) , Eline Van Holm (UGent) , Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2025) JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. 92(3). p.607-610
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- Journal Article
- A1
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien Beyls (UGent) , Evi Duthoo (UGent) , Lynn Backers (UGent) , Karlien Claes (UGent) , [missing] RAPID Clinicians, Tessa Kerre (UGent) , B. Lambrecht, Levi Hoste (UGent) , B. Meertens, T. Van Genechten, et al.

(2025) JOURNAL OF CLINICAL IMMUNOLOGY. 45(1).
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- Conference Paper
- C3
Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity

Leslie Naesens (UGent) , Bram Meertens (UGent) , Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Ciel De Vriendt (UGent) , Tessa Kerre (UGent) , Simon Tavernier (UGent) and Filomeen Haerynck (UGent)

(2024) ACTA CLINICA BELGICA. In Acta Clinica Belgica 79(Supplement 1). p.9-9
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- Miscellaneous
Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Maxim Verlee (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Matthias Van Impe (UGent) , Hanna De Saffel (UGent) , Lisa Caboor (UGent) , Piyanoot Tapaneeyaphan (UGent) , Anne Bonnin, et al.

(2024) BioRxiv.
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- Conference Paper
- C3
Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Maxim Verlee (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Matthias Van Impe (UGent) , Hanna De Saffel (UGent) , Lisa Caboor (UGent) , Piyanoot Tapaneeyaphan (UGent) , Anne Bonnin, et al.

(2024) International Vascular Biology Meeting 2024, Abstracts.
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- Conference Paper
- C3
PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity

Leslie Naesens (UGent) , Bram Meertens (UGent) , Lore Pottie (UGent) , Marieke De Bruyne (UGent) , Ciel De Vriendt (UGent) , Tessa Kerre (UGent) , Simon Tavernier (UGent) and Filomeen Haerynck (UGent)

(2024) European Society for Immunodeficiencies (ESID) 21st Biennial Meeting, Abstracts.
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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien Beyls (UGent) , Evi Duthoo (UGent) , Lynn Backers (UGent) , Karlien Claes (UGent) , [missing] RAPID clinicians, Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Victoria Bordon, Carolien Bonroy (UGent) , Simon Tavernier (UGent) , et al.

(2024) MEDRXIV.
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- Conference Paper
- C3
- open access
The clinical use of exome sequencing to diagnose PCD patients

Lore Pottie (UGent) , Sofie Symoens (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.385-385
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- Conference Paper
- C3
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Adelbert De Clercq (UGent) , Matthias Van Impe (UGent) , Delfien Syx (UGent) , Andy Willaert (UGent) , Lisa Caboor (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.

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