Ghent University Academic Bibliography

Journal Article
A1
open access

Employment and work ability in individuals living with rare diseases : a systematic literature review

Nicolas Bougas, Terhi Kangas, Katrien Vanthomme (UGent) , Jose Joaquín Mira Solves, Gaël Brulé, Helene Mellerio, Hadewijch Vandenheede and Agnes Dumas

(2025) ORPHANET JOURNAL OF RARE DISEASES. 20(1).

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Journal Article
A1
open access

Mapping challenges in the accessibility of treatment products for urea cycle disorders : a survey of European healthcare professionals

Nina N. Stolwijk, Johannes Häberle, Hidde H. Huidekoper, Margreet A. E. M. Wagenmakers, Carla E. M. Hollak, Annet M. Bosch, Arnaud Vanlander (UGent) and [missing] the E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management

(2025) JOURNAL OF INHERITED METABOLIC DISEASE. 48(1).

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Journal Article
A1
open access

Pregnancy-related issues in rare and low-prevalence diseases : results of ERN transversal working group on pregnancy and family planning survey

Dina Zucchi, Diana Marinello, Chiara Tani, Giovanni Fulvio, Silvia Aguilera, Alexandra Benachi, Ruth Biller, Ignacio Blanco, Petra Borgards, Marie-Claude Boiteux, et al.

(2025) ORPHANET JOURNAL OF RARE DISEASES. 20(1).

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Journal Article
A2
open access

Framing the European Rare Diseases field through a structured movement of patient organisations

Maria Cavaller Bellaubi (UGent) , Virginie Hivert, Roseline Favresse and Yann Le Cam

(2024) RARE DISEASES ORPHAN DRUGS JOURNAL. 3(23).

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Journal Article
A1
open access

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Claudia Cruz Oliveira, Periklis Charalampous, Julien Delaye, Diana Alecsandra Grad, Pavel Kolkhir, Enkeleint A. Mechili, Brigid Unim, Brecht Devleesschauwer (UGent) and Juanita A. Haagsma

(2024) ORPHANET JOURNAL OF RARE DISEASES. 19(1).

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Journal Article
A1
open access

Electronic reporting of rare endocrine conditions within a clinical network : results from the EuRRECa project

S R Ali, J Bryce, A L Priego-Zurita, M Cherenko, C Smythe, T M de Rooij, Martine Cools (UGent) , T Danne, H Katugampola, O M Dekkers, et al.

(2023) ENDOCRINE CONNECTIONS. 12(12).

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Journal Article
A1
open access

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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Journal Article
A1
open access

SUsPECT : a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders (UGent) , Sarah E. Hunt, Alexander Hoischen, et al.

(2023) BMC GENOMICS. 24(1).

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PhD Thesis

Outcome measures for microcirculation and skin in and beyond systemic sclerosis

Amber Vanhaecke

(2022)

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Journal Article
A1
open access

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas Nollet (UGent) , Matthias Van Gils, Suzanne Fischer (UGent) , Laurence Campens (UGent) , Swapna Karthik, Andreas Pasch, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Daniel Devos (UGent) , Tine De Backer (UGent) , et al.

(2022) JOURNAL OF CLINICAL MEDICINE. 11(13).

Academic Bibliography

Employment and work ability in individuals living with rare diseases : a systematic literature review

Mapping challenges in the accessibility of treatment products for urea cycle disorders : a survey of European healthcare professionals

Pregnancy-related issues in rare and low-prevalence diseases : results of ERN transversal working group on pregnancy and family planning survey

Framing the European Rare Diseases field through a structured movement of patient organisations

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Electronic reporting of rare endocrine conditions within a clinical network : results from the EuRRECa project

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

SUsPECT : a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Outcome measures for microcirculation and skin in and beyond systemic sclerosis

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

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