List of works - Amy C Yang

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

scientific article published on 25 October 2012

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

scientific journal article

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

scientific article

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

scientific article

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations

scientific article

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

scientific article published on 20 March 2017

Myoclonus in ataxia-telangiectasia.

scientific article published on 13 March 2015

Parkinson's disease prevalence in Fabry disease: A survey study

scientific article published on 9 November 2017

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

scientific article published on 17 November 2014

Persistent tryptase elevation in a patient with Gaucher disease

scientific article published on 12 October 2017

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

scientific article

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

scientific article published on May 2015

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?

scientific article published on 20 February 2019

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

scientific article published on 11 June 2013

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

scientific article published on October 2011

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

scientific article

List of works by Amy C Yang

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

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

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

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Myoclonus in ataxia-telangiectasia.

Parkinson's disease prevalence in Fabry disease: A survey study

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

Persistent tryptase elevation in a patient with Gaucher disease

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?

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

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

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