AmyCYangMD

PubMed

• 10 citations
  Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
  Emily de los Reyes, Lenora Lehwald, Erika F. Augustine, Elizabeth Berry-Kravis, Karen Butler, Natalie Cormier, Scott Demarest, Sam Lu, Jacqueline Madden, Joffre Olaya,...> ;Pediatric Neurology. 2020 May 4
• 3 citations
  The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.
  Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani> ;Molecular Genetics and Metabolism Reports. 2020 Mar 1
• 18 citations
  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2020 Mar 1
• 2 citations
  Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?
  Jasmine Gujral, Mabel Yau, Amy Yang, Rama D. Kastury, Christopher J. Romero, Elizabeth Wallach, Meredith Wilkes, Gertrude Costin, Robert Rapaport> ;Journal of the Endocrine Society. 2019 Apr 1
• 99 citations
  The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
  Melissa P. Wasserstein, Michele Caggana, Sean M. Bailey, Robert J. Desnick, Lisa Edelmann, Lissette Estrella, Ian R. Holzman, Nicole Kelly, Ruth Kornreich, S. Gabriel ...> ;Genetics in Medicine. 2019 Mar 1
• 20 citations
  Immune-mediated graft dysfunction in liver transplant recipients with hepatitis C virus treated with direct-acting antiviral therapy.
  Christine Chan, Thomas D. Schiano, Eliana Z. Agudelo, John P. Haydek, Maarouf Hoteit, Marcela Laurito, J. P. Norvell, Norah A. Terrault, Elizabeth C. Verna, Amy Yang, ...> ;American Journal of Transplantation. 2018 Oct 1
• 30 citations
  Parkinson's disease prevalence in Fabry disease: A survey study
  Adina H. Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J. Desnick, Roy N. Alcalay> ;Molecular Genetics and Metabolism Reports. 2018 Mar 1
• 9 citations
  Persistent tryptase elevation in a patient with Gaucher disease.
  Edith Schussler, Amy Yang, Jonathan J. Lyons, Joshua D. Milner, Julie Wang> ;The Journal of Allergy and Clinical Immunology. in Practice. 2017 Oct 13
• 13 citations
  Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
  Amy Yang, Louise Bier, Jessica Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J. Desnick, Manisha Balwani> ;Genetics in Medicine. 2017 Jun 1
• 5 citations
  Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
  Lisa Karger, Wahab A. Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Arvind Babu, Ninette Cohen, Amy Yang, Stuart A. Scott> ;American Journal of Medical Genetics. Part A. 2017 Mar 20
• 34 citations
  ALG1-CDG: clinical and molecular characterization of 39 unreported patients
  Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita B...> ;Human Mutation. 2016 Jul 1
• 22 citations
  Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
  Pichet Termsarasab, Amy Yang, Steven J. Frucht> ;Tremor and Other Hyperkinetic Movements. 2015 Sep 16
• 24 citations
  Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
  Ahmed Khattab, Tony Yuen, Mabel Yau, Sorahia Domenice, Elaine Maria Frade Costa, Kazmi Diya, Dwaipayan Muhuri, Christian Pina, Mirian Yumie Nishi, Amy Yang, Berenice B...> ;Journal of Pediatric Endocrinology & Metabolism. 2015 May 1
• 8 citations
  Myoclonus in Ataxia-Telangiectasia
  Pichet Termsarasab, Amy Yang, Steven J. Frucht> ;Tremor and Other Hyperkinetic Movements. 2015 Mar 13
• 14 citations
  Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
  Pichet Termsarasab, Amy Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, Steven J. Frucht> ;Tremor and Other Hyperkinetic Movements. 2014 Nov 17
• 103 citations
  Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
  Alexander Kolevzon, Benjamin Angarita, Lauren Bush, A. Ting Wang, Yitzchak Frank, Amy Yang, Robert Rapaport, Jeffrey M. Saland, Shubhika Srivastava, Cristina Farrell, ...> ;Journal of Neurodevelopmental Disorders. 2014 Oct 8
• 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, Kimiyo Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta> ;Molecular Genetics and Metabolism. 2013 Nov 1
• 1 citations
  Asymptomatic massive hepatomegaly and steatosis in a toddler: a diagnostic challenge.
  Rishi Gupta, Amy Yang, Margret S. Magid, Ronen Arnon, Jaime Chu, Nanda Kerkar> ;Journal of Pediatric Gastroenterology and Nutrition. 2013 Jul 1
• 224 citations
  Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
  Latha Soorya, Alexander Kolevzon, Jessica Zweifach, Teresa Lim, Yuriy Dobry, Lily Schwartz, Yitzchak Frank, A. Ting Wang, Guiqing Cai, Elena Parkhomenko, Danielle Halp...> ;Molecular Autism. 2013 Jun 11
• 50 citations
  A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents
  Klaas J. Wierenga, Zhijie Jiang, Amy Yang, John J. Mulvihill, Nicholas F. Tsinoremas> ;Genetics in Medicine. 2013 May 1
• 24 citations
  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...
  David E. Cervantes-Barragán, Camilo E. Villarroel, Alma Medrano-Hernández, Carola Durán-McKinster, Vanessa Bosch-Canto, Victoria del-Castillo, Irina Nazarenko, Amy Yan...> ;Journal of Medical Genetics. 2011 Oct 1
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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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