Darius J. Adams

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss et al. · Nature · 2022 · 471 citations · Full text

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

<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

Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini et al. · Pediatric Neurology · 2009 · 187 citations

Early Diagnosis, Neonatology, Newborn Screening +6

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 146 citations · Full text