Ghent University Academic Bibliography

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.

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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).

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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).

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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).

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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).

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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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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).

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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia Micale, Silvia Morlino, Annalucia Carbone, Annamaria Carissimo, Grazia Nardella, Carmela Fusco, Orazio Palumbo, Annalisa Schirizzi, Federica Russo, Gianluigi Mazzoccoli, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.439-453

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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.344-363

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Journal Article
A1
open access

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al.

(2022) GENETICS IN MEDICINE. 24(6). p.1261-1273

Academic Bibliography

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

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

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

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

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

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

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

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

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