Ghent University Academic Bibliography

Your filters: cql: author="Keren, Boris" or (type any "bookEditor issueEditor" and editor="Keren, Boris")

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- Conference Paper
- C3
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Al Alam Chadi, David Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Birk, Bert Callewaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.953-953
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- Journal Article
- A1
- open access
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez Baca (UGent) , María Palomares-Bralo, Michiel Vanhooydonck (UGent) , Lisa Hamerlinck (UGent) , Eva D'haene (UGent) , Sebastian Leimbacher (UGent) , Eva Jacobs, Laurenz De Cock, Erika D'haenens (UGent) , Annelies Dheedene (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(6). p.1388-1414
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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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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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- Journal Article
- A1
- open access
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J. Watson, Victor Faundes, Yannis Duffourd, et al.

(2023) SCIENCE ADVANCES. 9(10).
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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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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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.

(2022) HUMAN GENETICS. 141(1). p.65-80
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- Journal Article
- A1
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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
- A2
- open access
Subcortical myoclonus and associated dystonia in 22q11.2 deletion syndrome

Vincent Van Iseghem, Eavan McGovern, Emmanuelle Apartis, Boris Keren, Marie Vidailhet, Emmanuel Roze and Bertrand Degos

(2020) TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 10.

Academic Bibliography

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

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

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

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

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

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Subcortical myoclonus and associated dystonia in 22q11.2 deletion syndrome

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