Ghent University Academic Bibliography

Journal Article
A1
open access

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey (UGent) , Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, Bert Callewaert (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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Journal Article
A1
open access

Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, et al.

(2023) GENOME MEDICINE. 15(1).

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Journal Article
A1
open access

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, et al.

(2023) GENOME MEDICINE. 15(1).

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Journal Article
A1
open access

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al.

(2022) GENOME MEDICINE. 14(1).

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Journal Article
A1
open access

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al.

(2021) GENOME MEDICINE. 13(1).

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Journal Article
A1
open access

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Lennart Raman, Malaïka Van der Linden (UGent) , Kim Van der Eecken, Karim Vermaelen (UGent) , Ingel Demedts, Veerle Surmont (UGent) , Ulrike Himpe, Franceska Dedeurwaerdere, Liesbeth Ferdinande (UGent) , Yolande Lievens (UGent) , et al.

(2020) GENOME MEDICINE. 12(1).

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Journal Article
A1
open access

Towards a European health research and innovation cloud (HRIC)

F. M. Aarestrup, A. Albeyatti, W. J. Armitage, C. Auffray, L. Augello, R. Balling, N. Benhabiles, G. Bertolini, J. G. Bjaalie, M. Black, et al.

(2020) GENOME MEDICINE. 12(1).

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Journal Article
A1
open access

Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis

Markus Mayrhofer, Bram De Laere, Tom Whitington, Peter Van Oyen, Christophe Ghysel, Jozef Ampe, Piet Ost (UGent) , Wim Demey, Lucien Hoekx, Dirk Schrijvers, et al.

(2018) GENOME MEDICINE. 10.

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Journal Article
A1
open access

The emerging molecular pathogenesis of neuroblastoma : implications for improved risk assessment and targeted therapy

Nadine Van Roy (UGent) , Katleen De Preter (UGent) , Jasmien Hoebeeck (UGent) , Tom Van Maerken (UGent) , Filip Pattyn (UGent) , Pieter Mestdagh (UGent) , Joëlle Vermeulen (UGent) , Jo Vandesompele (UGent) and Franki Speleman (UGent)

(2009) GENOME MEDICINE. 1(7).

Academic Bibliography

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Towards a European health research and innovation cloud (HRIC)

Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis

The emerging molecular pathogenesis of neuroblastoma : implications for improved risk assessment and targeted therapy

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