Amy Yang

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

Latha Soorya, Alexander Kolevzon, Jessica Zweifach et al. · Molecular Autism · 2013 · 342 citations · Full text

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa Wasserstein, Michele Caggana, Sean M. Bailey et al. · Genetics in Medicine · 2018 · 159 citations · Full text

Lysosomal Storage Diseases, Early Diagnosis, Neonatology +9

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

Klaas J. Wierenga, Zhijie Jiang, Amy Yang et al. · Genetics in Medicine · 2012 · 87 citations · Full text

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Amy Yang, Bobby G. Ng, Steven A. Moore et al. · Molecular Genetics and Metabolism · 2013 · 82 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 54 citations · Full text

Genetics, Immunology, Glycobiology +22