Sarah H. Elsea

Mutations in RAI1 associated with Smith–Magenis syndrome

Rebecca E. Slager, Tiffany Lynn Newton, Christopher N. Vlangos et al. · Nature Genetics · 2003 · 357 citations · Full text

Mendelian Disorder, Smith–magenis Syndrome, Genetic Disorder +7

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian et al. · The American Journal of Human Genetics · 2010 · 297 citations · Full text

Genetic Disorder, Genetics, Developmental Delays +5

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Marcus J. Miller, Adam D. Kennedy, Andrea D. Eckhart et al. · Journal of Inherited Metabolic Disease · 2015 · 214 citations · Full text

Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism

Lisa A. Ford, Adam D. Kennedy, Kelli D. Goodman et al. · The Journal of Applied Laboratory Medicine · 2020 · 178 citations · Full text