Ghent University Academic Bibliography

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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 (UGent) , Erika D'haenens (UGent) , Annelies Dheedene (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS.
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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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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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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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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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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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- A2
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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.
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H. Gerkes, Andrew E. Fry, Michael J. Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, et al.

(2020) HUMAN MUTATION. 41(5). p.1042-1050

Academic Bibliography

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

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

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