Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang, +9

The American Journal of Human Genetics

Genome InstabilityRecurrent SpontaneousMendelian DisorderGenetic DisorderRett Syndrome +8

Neuroanatomy of Rett syndrome: A volumetric imaging study

Allan L. Reiss, Faisal Faruque, Sakkubai Naidu, +4

Annals of Neurology

NeuropsychologyNeurological DisorderRett SyndromeCorticobasal DegenerationBrain Lesion +17

De novo <i>KCNB1</i> mutations in epileptic encephalopathy

Ali Torkamani, Kevin Bersell, Benjamin S. Jorge, +9

Annals of Neurology

In vivo quantitative proton MRSI study of brain development from childhood to adolescence

Alena Horská, Walter E. Kaufmann, Larry J. Brant, +3

Journal of Magnetic Resonance Imaging

Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, +32

JAMA Neurology

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, +208

The American Journal of Human Genetics

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, +68

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologySyndromic AutismGenetic Disorder +8

Altered neurochemical markers in Rett's syndrome

Gary L. Wenk, Sakkubai Naidu, Manuel F. Casanova, +2

Neurology

Neurodegenerative DiseasesPsychiatryCorticobasal DegenerationNeuroanatomyMedicine +11

De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Emily Webster, Megan T. Cho, Nora Alexander, +7

Molecular Case Studies

Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice

Michael V. Johnston, Simon G. Ammanuel, Cliona O’Driscoll, +3

Frontiers in Systems Neuroscience