Lauren Brick

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

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

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

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo et al. · The American Journal of Human Genetics · 2019 · 190 citations · Full text

Genetic Testing, Diagnostic Utility, Medicine +9

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

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana et al. · European Journal of Human Genetics · 2013 · 86 citations · Full text

Neurodevelopmental Disorders, Reciprocal Deletion, Psychiatry +9

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

Adriana Nori de Macedo, Stellena Mathiaparanam, Lauren Brick et al. · ACS Central Science · 2017 · 86 citations · Full text

Sweat Chloride Test, Biochemistry, Medicine +12

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 et al. · The American Journal of Human Genetics · 2018 · 71 citations · Full text

Signal Transduction, Glycosylation, Altered Proteoglycan Glycosylation +11