AmyCYangMD

PubMed

• 36 citations
  ALG1-CDG: clinical and molecular characterization of 39 unreported patients
  Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond
  Human Mutation. 2016-07-01
• 56 citations
  Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
  Amy Yang, Bobby G. Ng, Steven A. Moore, Jeffrey S. Rush, Charles J. Waechter
  Molecular Genetics and Metabolism. 2013-11-01
• 21 citations
  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
  Ghayda M. Mirzaa, Jessica X. Chong, Amélie Piton, Bernt Popp, Kimberly Foss
  Genetics in Medicine. 2020-03-01

Journal Articles

• The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants  
  Lissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature
• Myoclonus in Ataxia-telangiectasia  
  Termsarasab P, Yang AC, Frucht SJ, Tremor Other Hyperkinet Mov, 1/1/2015
• Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-genotype Correlations  
  Termsarasab P, Yang AC, Frucht SJ, Tremor Other Hyperkinet Mov, 1/1/2015
• Paroxysmal Kinesigenic Dyskinesia Caused by 16p112 Microdeletion  
  Termsarasab P, Yang AC, Reiner J, Mei H, Scott SA, Frucht SJ, Tremor Other Hyperkinet Mov, 1/1/2014
• Prospective Investigation of Autism and Genotype-Phenotype Correlations in 22q13 Deletion Syndrome and SHANK3 Deficiency  
  Soorya LV, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang T, Cai G, Parkhomenko E, Halpern D, Angarita B, Willner JP, Yang A, Canitano R, Betancur C..., Molecular Autism, 1/1/2013
• Congenital Disorder of Glycosylation due to DPM1 Mutations Presenting with Dystroglycanopathy-type Congenital Muscular Dystrophy  
  Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, and Mehta L, Molecular Genetics and Metabolism, 1/1/2013
• A Clinical Evaluation Tool for SNP Arrays, Especially for Autosomal Recessive Conditions in Offspring of Consanguineous Parents  
  Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF, Genetics in Medicine, 1/1/2012
• Asymptomatic Massive Hepatomegaly And Steatosis in A Toddler: A Diagnostic Challenge  
  Gupta R, Yang A, Magid MS, et al., Journal of Pediatric Gastroenterology and Nutrition, 1/1/2012
• Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dyspla...  
  Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Victoria Del-Castillo, Nazarenko I, Yang A, Desnick RJ, J Medical Genetics, 1/1/2011
• Pitfalls in Hormonal Diagnosis of 17-Beta Hydroxysteroid Dehydrogenase III Deficiency  
  Khattab A, Yuen T, Yau M, Domenice S, Costa EMF, Diya K, Muhuri D, Pina CE, Nishi MY, Yang AC, New MI, Journal of Pediatric Endocrinology & Metabolism, 1/23/2014
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Books/Book Chapters

• ACP Clinical Genomics: Practicle Applications in Adult Patient Care 
  Chapter: Chapter 135: Dystrophinopathies 
  Rana H, Yang A, Mehta LEditors: Murray M, Babyastsky M, Giovanni M.McGraw-HillsEdition 1st,2014

Abstracts/Posters

• Monitoring of Gaucher Disease Type 1 in Presymptomatic Pediatric Patients
  L Bier, A Yang, K Desai, J Cohen-Pfeffer, RJ Desnick, M Balwani, Lysosomal Disease Network WORLD Symposium, San Diego, CA, 1/1/2014
• Using Regions of Homozygosity and the Genomic Oligoarray and SNP Array Evaluation Tool to Aid in the Diagnosis of Infantile Neuroaxonal Dystrophy in a Patient with Reg...
  A Yang, K Wierenga, Z Jiang, R Burnside, E.W. Jabs, American College of Medical Genetics Meeting, Charlotte, NC, 1/1/2012
• Cobalamin C Disease with Fulminant Hyperammonemic Presentation in the Neonatal Period.
  N.S. Abul-Husn, A.C. Yang, C Yu, H Chen, G.A. Diaz, J.D. Weisfeld-Adams, American Society of Human Genetics Meeting, Boston, MA, 1/1/2012
• Male Infant with Freeman-Sheldon Syndrome and an Incidental Diagnosis of Duchenne/Becker Muscular Dystrophy.
  K Oishi, E Quinn, M Babcock, L Edelmann, S Scott, A Yang, G Diaz, American Society of Human Genetics Meeting, Boston, MA, 1/1/2012
• 1p36 CNVs Cause Setleis Syndrome, a Focal Facial Dermal Dysplasia
  R.J. Desnick, A. Yang, L Edelmann, L. Liang, I. Nazarenko, A. Ma’ayan, B.E. Blessing, V.K. Proud, J.E. Ming, J.A. Rosenfeld, C. Cadilla, A.R. Norby, D.D. Weaver., American Society of Human Genetics Meeting, Montreal, Canada, 1/1/2011
• DPM1 Mutation in a Patient with Dystrophic Muscle and Abnormal Alpha-dystroglycan
  A.C. Yang, B. Ng, S.A. Moore, J.S. Rush, K.M. Raymond, C.J. Waechter, H.H. Freeze, L. Mehta., American Society of Human Genetics Meeting, Washington, DC, 1/1/2010
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Lectures

• What’s Your Specialty? 
  St. John’s University, Queens, NY - 1/1/2013
• 22 Year-old with Multiple Nerve Tumors 
  New York, NY - 1/1/2013
• Newborn Screening and Inborn Errors of Metabolism 
  Harlem Hospital Center, New York, NY - 1/11/2014
• Genetics of Movement Disorders: A Practical Approach 
  Mount Sinai Medical Center, New York, NY - 1/29/2015
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