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 · 349 citations · Full text

Medicine, Genetics, Neurology +17

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 · 166 citations · Full text

Medicine, Child Health, Pediatrics +16

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 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 83 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 58 citations · Full text

Life Sciences, Biochemistry, Genetics +17