Randy Heidenreich

Organization of the gene for platelet glycoprotein IIb

Randy Heidenreich, R Eisman, Saul Surrey et al. · Biochemistry · 1990 · 187 citations

The National Niemann–Pick C1 disease database: Report of clinical features and health problems

William S. Garver, Gordon A. Francis, David Jelínek et al. · American Journal of Medical Genetics Part A · 2007 · 159 citations

Guidelines for the Retention, Storage, and Use of Residual Dried Blood Spot Samples after Newborn Screening Analysis: Statement of the Council of Regional Networks for Genetic Services

Bradford L. Therrell, W. Harry Hannon, Kenneth A. Pass et al. · Biochemical and Molecular Medicine · 1996 · 129 citations

Genetic Testing, Neonatology, Newborn Screening +8

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur, Justin Blair, Batsal Devkota et al. · American Journal of Medical Genetics Part A · 2023 · 37 citations · Full text

The Niemann-Pick C1 and caveolin-1 proteins interact to modulate efflux of low density lipoprotein-derived cholesterol from late endocytic compartments.

David Jelínek, Randy Heidenreich, Robert A. Orlando et al. · PubMed · 2014 · 10 citations · Full text