Lauren Brady

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

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

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 149 citations · Full text

Amyotrophic Lateral Sclerosis, Neurological Disorder, Excess Sphingolipid Synthesis +3

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood et al. · Nature Communications · 2018 · 116 citations · Full text

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15