Ghent University Academic Bibliography

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

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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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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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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
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, et al.

(2020) NATURE COMMUNICATIONS. 11(1).
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot RF Reijnders, Alexander JM Dingemans, Rolph Pfundt, Anneke T Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, et al.

(2019) AMERICAN JOURNAL OF HUMAN GENETICS. 104(4). p.758-766
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, et al.

(2018) GENETICS IN MEDICINE. 21(4). p.837-849

Academic Bibliography

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

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

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

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