Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, +65

The American Journal of Human Genetics

Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation +9

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, +24

The American Journal of Human Genetics

Genetic TestingDiagnostic UtilityMedicineGeneticsDna Methylation +7

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, +24

European Journal of Human Genetics

Neurodevelopmental DisordersReciprocal DeletionPsychiatrySyndromic AutismGenetic Disorder +7

The Sweat Metabolome of Screen-Positive Cystic Fibrosis Infants: Revealing Mechanisms beyond Impaired Chloride Transport

Adriana Nori de Macedo, Stellena Mathiaparanam, Lauren Brick, +5

ACS Central Science

Sweat Chloride TestBiochemistryMedicineBioanalysisPhysiology +10

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément, +51

The American Journal of Human Genetics

Signal TransductionGlycosylationAltered Proteoglycan GlycosylationDisrupted Vesicular TraffickingGlycobiology +9

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, +66

Acta Neuropathologica

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, +64

The American Journal of Human Genetics

Severe intellectual disability and autistic features associated with microduplication 2q23.1

Brian HY Chung, Sureni V. Mullegama, Christian R. Marshall, +10

European Journal of Human Genetics

Neurodevelopmental DisordersIntellectual ImpairmentGenetic DisorderGeneticsSevere Intellectual Disability +10

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker, +30

PLoS Genetics

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, +66

The American Journal of Human Genetics

Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation +9