Christelle Moufawad El Achkar

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

S. Spence, J. Spiro, S. Kessler, 2022, Neurology: Genetics.

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit

D. Hines, S. Moss, R. Hines, 2022, Molecular Psychiatry.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Jinkuk Kim, Annapurna Poduri, P Ellen Grant, 2019, The New England journal of medicine.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

S. Traynelis, Hongjie Yuan, S. J. Myers, 2019, Brain : a journal of neurology.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

L. Vissers, H. Lerche, R. Møller, 2020, Annals of neurology.

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Courtney E. French, A. Poduri, Shira Rockowitz, 2023, JAMA network open.