Ghent University Academic Bibliography

Journal Article
A1
open access

RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylene le Meur, Matthieu Egloff, Bertrand Isidor, Benjamin Cogne, Diane Beysen, Paul Rollier, et al.

(2025) GENETICS IN MEDICINE. 27(4).

Add to list

Journal Article
A1
open access

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Eva Berger, Robin-Tobias Jauss, Judith D. Ranells, Emir Zonic, Lydia von Wintzingerode, Ashley Wilson, Johannes Wagner, Annabelle Tuttle, Amanda Thomas-Wilson, Björn Schulte, et al.

(2025) GENETICS IN MEDICINE. 27(5).

Add to list

Journal Article
A1
open access

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert (UGent) , Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, et al.

(2025) GENETICS IN MEDICINE. 27(7).

Add to list

Journal Article
A1
open access

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

Linda A.J. Hendricks, Katja C.J. Verbeek, Janneke H.M. Schuurs-Hoeijmakers, Mirjam M. de Jong, Thera P. Links, Hilde Brems, Mio Aerden, Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg, et al.

(2025) GENETICS IN MEDICINE. 27(10).

Add to list

Journal Article
A1
open access

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants

S.E. van Peer, T.D. Treger, J. Wegert, J.A. Hol, J. Le Gall, E.E. Jakkula, J. Kamihara, E.A. Mullen, N. Graf, S. Behjati, et al.

(2025) GENETICS IN MEDICINE. 27(9).

Add to list

Journal Article
A1
open access

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz, Cyril Mignot, Boris Keren, Bénédicte Héron, Charlotte De Bie, et al.

(2024) GENETICS IN MEDICINE. 26(5).

Add to list

Journal Article
A1
open access

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Snežana Hinić, Cezary Cybulski, Rachel S. Van der Post, Janet R. Vos, Janneke Schuurs-Hoeijmakers, Fulvia Brugnoletti, Saskia Koene, Lilian Vreede, Wendy A.G. van Zelst-Stams, C. Marleen Kets, et al.

(2024) GENETICS IN MEDICINE. 26(5).

Add to list

Miscellaneous
open access

Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics

Kyle J. McKibbin, Alice B. Popejoy and Mahsa Shabani (UGent)

(2024) GENETICS IN MEDICINE. 26(7).

Add to list

Miscellaneous
open access

The evolving role of medical geneticists in the era of gene therapy : an urgency to prepare

Jerry Vockley, Nicola Brunetti-Pierri, Wendy K. Chung, Angus J. Clarke, Nina Gold, Robert C. Green, Stephen Kagan, Tara Moroz, Christian P. Schaaf, Martin Schulz, et al.

(2023) GENETICS IN MEDICINE. 25(4).

Add to list

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá-Palacios, Boris Keren, Robert Kopajtich, et al.

(2023) GENETICS IN MEDICINE. 25(12).

Academic Bibliography

RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics

The evolving role of medical geneticists in the era of gene therapy : an urgency to prepare

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Contents

Support

Contact