Professor of Pediatrics, Johns Hopkins University School of Medicine; Dr. Frank V. Sutland Professor of Pediatric Genetics
Medical Genetics
Dr. Ada Hamosh, MD
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Ada Hamosh practices Medical Genetics. He researched medicine at Georgetown University School of Medicine. Georgetown University School of Medicine is ranked 49 in research and 84 in primary care medicine Hamosh is also a published physician. He has 67 publication published. The most recent publication is: A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Hamosh accepts Medicare payments and is registered with Medicare.gov.
Publications
- New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, A Web-based Tool for Linking Investigators with an Interest in t...
- Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
- Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.
- Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
- Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.
- PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features.
- Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.
- A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.
- Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
- American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the p...
- A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).
- Mosaic trisomy 13: understanding origin using SNP array.
- Genomic analysis of partial 21q monosomies with variable phenotypes.
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
- Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.
- False negative cystic fibrosis newborn screen.
- Hydroxocobalamin dose escalation improves metabolic control in cblC.
- 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.
- Planning the human variome project: the Spain report.
- Citrin deficiency, a perplexing global disorder.
- McKusick''s Online Mendelian Inheritance in Man (OMIM).
- 3q29 interstitial microduplication: a new syndrome in a three-generation family.
- Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
- Heritability of lung disease severity in cystic fibrosis.
- Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.
- Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.
- Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.
- Progressive cavitating leukoencephalopathy: a novel childhood disease.
- Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
- Natural history of nonketotic hyperglycinemia in 65 patients.
- Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
- Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestion.
- Development of human protein reference database as an initial platform for approaching systems biology in humans.
- The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.
- Problematic variation in local institutional review of a multicenter genetic epidemiology study.
- Concerns regarding transience and heterozygosity in neonatal hyperglycenemia.
- Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.
- Association of human aging with a functional variant of klotho.
- Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
- Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
- Online Mendelian Inheritance in Man (OMIM).
- Pachygyria in Weaver syndrome.
- A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
- Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.
- Comparison of the clinical manifestations of cystic fibrosis in black and white patients.
- Possible association of the allele status of the CS.7/HhaI polymorphism 5'' of the CFTR gene with postnatal female survival.
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
- False-positive results of genetic testing in cystic fibrosis.
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.
- Nonstop treatment of cystic fibrosis.
- Association of anophthalmia and esophageal atresia.
- Nonsense mutations and diminished mRNA levels.
- The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.
- Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
- Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of ...
- Argininosuccinase deficiency in a premature infant.
- Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.
- Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.
- Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508...
- CFTR protein expression in primary and cultured epithelia.
- CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.
- Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromos...
- The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Schools
Georgetown University
Johns Hopkins Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Amerigroup (Wellpoint)
- Blue Card PPO
- Cigna HMO
- Cigna PPO
- Open Access Plus
- Commercial Insurance Company
- CoreSource
- Coventry Health Care
- Emblem Health
- Geisinger Health Plan
- Choice Care PPO
- Kaiser Permanente
- Medicaid
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- Tricare
- Choice Plus POS
- Navigate HMO
- Options PPO
- United Healthcare
Education
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Johns Hopkins University -
Georgetown University School of Medicine
Hospital
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Johns Hopkins Bayview Medical Center -
Johns Hopkins Hospital
Drug Facts
| NPI NUMBER | 1538118542 | |
| NPPES Provider LastName | HAMOSH | |
| NPPES Provider FirstName | ADA | |
| NPPES Provider ZIPCode | 212870006 | |
| NPPES Provider State | MD | |
| Specialty Description | Pediatric Medicine | |
| Total Claim Count | 126.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1538118542 |
| Last Name Of The Provider | HAMOSH |
| First Name Of The Provider | ADA |
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