Ghent University Academic Bibliography

Journal Article
A1
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Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

Vanya S.V.J. Rossel, Jaap J.A.J. van der Velden, Renske Janssen, Bert Callewaert (UGent) , Aude Beyens (UGent) , Fanny Morice-Picar, Maaike Vreeburg, Peter C. van den Akker, Saskia M. Maas, Gilles F.H. Diercks, et al.

(2026) JOURNAL OF DERMATOLOGICAL SCIENCE. 121(3). p.22-31

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A genome sequence and efficient CRISPR/Cas9 gene editing tools for the solanaceous specialist pest Tetranychus evansi

Dries Amezian (UGent) , Femke De Graeve (UGent) , Rohith Mettumpurath Sasi, Lotte Vanhaecht (UGent) , Antonio Mocchetti (UGent) , Ernesto Villacis Perez (UGent) , Merijn R. Kant, Sander De Rouck (UGent) and Thomas Van Leeuwen (UGent)

(2026) INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY. 192.

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Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands

Lauren-Tess Goossens, Anne-Marie J. Verbruggen, Goedele Storms and Bart Broeckx (UGent)

(2026) FRONTIERS IN VETERINARY SCIENCE. 13.

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Successful eradication of feline coronavirus in breeding catteries paves the way to prevent feline infectious peritonitis

Luna Vanden Buijs (UGent) , Jolien Van Cleemput (UGent) , Emmanuel Abatih (UGent) and Hans Nauwynck (UGent)

(2026) VIRUSES-BASEL. 18(6).

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Diploid origins and early genome stabilization in the allotetraploid Arabidopsis suecica

Robin Burns, Anna Glushkevich, Aboli Kulkarni, Uliana K. Kolesnikova, Filip Kolář, Alison Dawn Scott and Polina Novikova (UGent)

(2026) NEW PHYTOLOGIST. 249(1). p.524-538

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ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum

Kevin Van Compernolle, Jacques Van Huysse, Kathleen Claes (UGent) , Ellen Denayer, Marie Bex and Annick Van den Bruel

(2026) JOURNAL OF MEDICAL GENETICS. 63(2). p.136-139

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ACTA2 pathogenic variants activating heat shock factor 1 and increasing cholesterol biosynthesis in smooth muscle cells predispose to early onset atherosclerosis

Maura L Boerio, Abhijnan Chattopadhyay, Xue-Yan Duan, Aamuktha Karla, Ernesto Calderon Martinez, Amelie Pinard, Andrew K Morse, Darshan Reddy, Sree Dharma, Walter Velasco-Torrez, et al.

(2026) CIRCULATION-GENOMIC AND PRECISION MEDICINE. 19(1).

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Opportunistic salpingectomy : is surgical completeness achieved? Insights from the QOS study

Anne-Sophie Maryns, Tjalina Hamerlynck (UGent) , Charlotte Van Overberghe, Ellen Allaert, Julie Rombaut, Amber Lievens, Sabine Declercq, Amin Makar (UGent) , Wiebren Tjalma, Philippe Tummers (UGent) , et al.

(2026) EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY. 321.

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Gene knockout of P450s CYP392A16 and CYP392D2 reveals unexpected in vivo effects and transcriptional rewiring in the extreme generalist Tetranychus urticae

Shauny Naessens (UGent) , Sander De Rouck (UGent) , Marilou Vandenhole (UGent) , Mahboubeh Hosseinkhani, Dimitra Tsakireli, John Vontas and Thomas Van Leeuwen (UGent)

(2026) INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY. 195.

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Ocular manifestations in congenital cutis laxa : a case series

Arnaud Van Slycken, Aude Beyens (UGent) , Bert Callewaert (UGent) and Elke O. Kreps (UGent)

(2025) CORNEA. 44(9). p.1107-1112

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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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Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Esperanza Daal (UGent) , Mehrnaz Ghazvini, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2025) STEM CELL RESEARCH. 89.

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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).

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Comparing the diagnostic accuracy of pre-operative genetic testing for thyroid cancer on fine needle aspiration cytology specimens : a systematic review and meta-analysis of diagnostic accuracy

Xin Liao, Klaas Van Den Heede, Bruno Lapauw (UGent) , Wouter Huvenne (UGent) , Dirk Ysebaert, Vanessa Meert, Ying Fang, Jing Li, Sam Van Slycke and Nele Brusselaers (UGent)

(2025) DISCOVER ONCOLOGY. 16(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, 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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Human stem cell models for Marfan syndrome : a brief overview of the rising star in disease modelling

Jeffrey Aalders (UGent) , Laura Muiño Mosquera (UGent) and Jolanda van Hengel (UGent)

(2025) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 12.

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Genes associated with hypertrophic cardiomyopathy : a reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E. Brown, Lily Hoffman-Andrews, Elizabeth Jordan, et al.

(2025) JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. 85(7). p.727-740

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Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

Jette J. Bakhuizen, Freerk van Dijk, Sebastian B.B. Bon, Lars T. van der Veken, Manon M.H. Huibers, Joris M. van Montfrans, Marieke De Bruyne (UGent) , Barbara De Moerloose (UGent) , Filomeen Haerynck (UGent) , Jan L.C. Loeffen, et al.

(2025) EUROPEAN JOURNAL OF CANCER. 226.

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Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort

Mikael Åkerlund, Georgios Baskozos, Wenqianglong Li, Andreas C. Themistocleous, Mathilde M.V. Pascal, N. William Rayner, Nadine Attal, Ralf Baron, Sophie Baudic, Kristine Bennedsgaard, et al.

(2025) PAIN. 166(6). p.1354-1368

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Population genomics reveal multiple independent origins of pesticide resistance in the polyphagous pest, Tetranychus urticae

Lei Chen, Li-Xue Guo, Hua-Meng Zhang, Xiao-Nan Sun, Yu-Ting Liu, Jie Ji, Wen-Xin Xue, Nicky Wybouw (UGent) , Thomas Van Leeuwen (UGent) , Xiao-Feng Xue, et al.

(2025) COMMUNICATIONS BIOLOGY. 8(1).

Academic Bibliography

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

A genome sequence and efficient CRISPR/Cas9 gene editing tools for the solanaceous specialist pest Tetranychus evansi

Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands

Successful eradication of feline coronavirus in breeding catteries paves the way to prevent feline infectious peritonitis

Diploid origins and early genome stabilization in the allotetraploid Arabidopsis suecica

ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum

ACTA2 pathogenic variants activating heat shock factor 1 and increasing cholesterol biosynthesis in smooth muscle cells predispose to early onset atherosclerosis

Opportunistic salpingectomy : is surgical completeness achieved? Insights from the QOS study

Gene knockout of P450s CYP392A16 and CYP392D2 reveals unexpected in vivo effects and transcriptional rewiring in the extreme generalist Tetranychus urticae

Ocular manifestations in congenital cutis laxa : a case series

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

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Comparing the diagnostic accuracy of pre-operative genetic testing for thyroid cancer on fine needle aspiration cytology specimens : a systematic review and meta-analysis of diagnostic accuracy

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

Human stem cell models for Marfan syndrome : a brief overview of the rising star in disease modelling

Genes associated with hypertrophic cardiomyopathy : a reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort

Population genomics reveal multiple independent origins of pesticide resistance in the polyphagous pest, Tetranychus urticae

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Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

A genome sequence and efficient CRISPR/Cas9 gene editing tools for the solanaceous specialist pest Tetranychus evansi

Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands

Successful eradication of feline coronavirus in breeding catteries paves the way to prevent feline infectious peritonitis

Diploid origins and early genome stabilization in the allotetraploid Arabidopsis suecica

ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum

ACTA2 pathogenic variants activating heat shock factor 1 and increasing cholesterol biosynthesis in smooth muscle cells predispose to early onset atherosclerosis

Opportunistic salpingectomy : is surgical completeness achieved? Insights from the QOS study

Gene knockout of P450s CYP392A16 and CYP392D2 reveals unexpected in vivo effects and transcriptional rewiring in the extreme generalist Tetranychus urticae

Ocular manifestations in congenital cutis laxa : a case series

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

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G&gt;A, p.(E519K)

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Comparing the diagnostic accuracy of pre-operative genetic testing for thyroid cancer on fine needle aspiration cytology specimens : a systematic review and meta-analysis of diagnostic accuracy

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

Human stem cell models for Marfan syndrome : a brief overview of the rising star in disease modelling

Genes associated with hypertrophic cardiomyopathy : a reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort

Population genomics reveal multiple independent origins of pesticide resistance in the polyphagous pest, Tetranychus urticae

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)