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City White Plains / Baird / / Company MacKenzie AE / Life Technologies / LG / Creative Commons / Google / / Country Jordan / United States / Singapore / / Currency USD / / / Facility American College of Medical Genetics / Children’s Hospital / McKusick-Nathans Institute of Genetic Medicine JHUB / / IndustryTerm medical insurance / Insurance / selfpayer healthcare systems / Online Mendelian Inheritance / model systems / differential diagnosis tool / silico software / healthcare professional / online submission / / MedicalCondition Mendelian disorders / intractable inflammatory bowel disease / novel autosomal recessive spastic ataxia / retinitis pigmentosa / complex disease / Mendelian diseases / heterogeneous diseases / developmental disorders / undiagnosed genetic disorders / monogenic diseases / targeted hearing loss / inherited disorders / deafness / clinical presentation mimicking Crohn’s disease / mild trichohepatoenteric syndrome / human diseases / genotype-positive Long QT Syndrome / human genetic disease / MS / hearing loss / birth defects / Mendelian disease / Introduction Mendelian diseases / long QT syndrome / ataxia / vascular malformations / cancer / cardiomyopathy / genetic disease / disease / gastrointestinal disease / tricho-hepato-enteric syndrome / inherited cardiac diseases / genetic syndrome / serious birth defect / chronic diarrhea / rare disorders / diseases / different disorders / single-gene disorders / rare Mendelian disorders / Pediatr Blood Cancer / thalassemia / cystic fibrosis / human disease / disorders / Genetic disorders / hamartoma syndromes / / MedicalTreatment molecular therapy / counseling / / NaturalFeature McDonald MT / / Organization KK Research Centre / European Society of Human Genetics / Research Centre / Children’s Hospital / SingHealth Duke-NUS Graduate Medical School / Genetics Service / the American College / MDBD / McKusick-Nathans Institute of Genetic Medicine JHUB / Department of Paediatrics / / Person Shashi V / / Position Nurturing Clinician Scientist / Newcombe HB / Lowry RB / author / clinician/researcher / genetic counselor / / ProvinceOrState Prince Edward Island / New York / / RadioStation D’Gama AM / Patch AM / Hammill AM / / Technology semiconductor / Genomics / hybridization / transplantation / drug screening / human genome / http / genotype / / URL http / SocialTag 
Clinical application of next-generation sequencing for Mendelian diseases