Marieke De Bruyne

Journal Article
A1
open access

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers (UGent) , Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2025) JOURNAL OF EXPERIMENTAL MEDICINE. 222(5).

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Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features

Stéphane Abramowicz (UGent) , Audrey Meunier, Dafina Draganova, Laure Caspers, Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , Laurence Postelmans and François Willermain

(2025) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 45(3). p.509-521

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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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Journal Article
A1
open access

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55

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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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Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

Stéphane Abramowicz (UGent) , Audrey Meunier, Laurence Postelmans, Laure Caspers, Francis Corazza, Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , François Willermain, et al.

(2024) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 44(9). p.1597-1607

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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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Miscellaneous
open access

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers (UGent) , Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2024) MEDRXIV.

Academic Bibliography

Marieke De Bruyne

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features

Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity

Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

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