Nicholas L. Rider

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez et al. · PLoS ONE · 2012 · 303 citations · Full text

Genetics, Five Novel Diseases, Genetic Epidemiology +19

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss et al. · The American Journal of Human Genetics · 2010 · 195 citations · Full text

Autoimmune Disease, Autoantibody Production, Disease Mechanism +8

Classical maple syrup urine disease and brain development: Principles of management and formula design

Kevin A. Strauss, Bridget Wardley, Christine Hendrickson et al. · Molecular Genetics and Metabolism · 2009 · 191 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Brain Development +7

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Joanne Ng, Juan Zhen, Esther Meyer et al. · Brain · 2014 · 159 citations · Full text