Ghent University Academic Bibliography

Miscellaneous

Beyond the usual suspects : autosomal recessive forms of childhood-onset thoracic aortic disease

Simon D'hulst (UGent) and Laura Muiño Mosquera (UGent)

(2025) INTERNATIONAL JOURNAL OF CARDIOLOGY. 421.

Journal Article
A1
open access

Whole exome sequencing as a screening tool in dogs : a pilot study

Fréderique Boeykens (UGent) , Evelien Bogaerts (UGent) , Liesbeth Vossaert (UGent) , Luc Peelman (UGent) , Filip Van Nieuwerburgh (UGent) , Jimmy Saunders (UGent) and Bart Broeckx (UGent)

(2025) COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL. 27. p.960-968

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Journal Article
A1
open access

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).

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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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Journal Article
A1
open access

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De Cock (UGent) , Erika D'haenens (UGent) , Lies Vantomme (UGent) , Lynn Backers (UGent) , Aude Beyens (UGent) , Kathleen Claes (UGent) , Griet De Clercq (UGent) , Robin de Putter (UGent) , Candy Kumps (UGent) , Nika Schuermans (UGent) , et al.

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

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Journal Article
A1
open access

A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer

Pieter-Jan Volders (UGent) , Philippe Aftimos, Franceska Dedeurwaerdere, Geert Martens, Jean-Luc Canon, Gabriela Beniuga, Guy Froyen, Jacques Van Huysse, Rebecca De Pauw, Hans Prenen, et al.

(2025) NPJ PRECISION ONCOLOGY. 9(1).

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Journal Article
A1
open access

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health

Jolien Perneel, Miranda Lastra Osua, Sara Alidadiani, Nele Peeters, Linus De Witte, Bavo Heeman, Simona Manzella, Riet De Rycke (UGent) , Mieu Brooks, Ralph B. Perkerson, et al.

(2025) MOLECULAR NEURODEGENERATION. 20(1).

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A new era in the science and care of kidney diseases

Carmine Zoccali, Francesca Mallamaci, Liz Lightstone, Vivek Jha, Carol Pollock, Katherine Tuttle, Peter Kotanko, Andrzej Wiecek, Hans Joachim Anders, Giuseppe Remuzzi, et al.

(2024) NATURE REVIEWS NEPHROLOGY. 20(7). p.460-472

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Journal Article
A1
open access

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Fabiola Ceroni, Münevver Burcu Cicekdal (UGent) , Richard Holt, Elena Sorokina, Nicolas Chassaing, Samuel Clokie, Thomas Naert (UGent) , Lidiya V. Talbot, Sanaa Muheisen, Dorine A. Bax, et al.

(2024) NATURE COMMUNICATIONS. 15(1).

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A1
open access

A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms

Marlies Verleyen (UGent) , Yukun He (UGent) , Arne Burssens (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Bert Callewaert (UGent) and Emmanuel Audenaert (UGent)

(2024) OSTEOARTHRITIS AND CARTILAGE. 32(8). p.872-885

Academic Bibliography

Beyond the usual suspects : autosomal recessive forms of childhood-onset thoracic aortic disease

Whole exome sequencing as a screening tool in dogs : a pilot study

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

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

Cracking rare disorders : a new minimally invasive RNA-seq protocol

A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health

A new era in the science and care of kidney diseases

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms

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