Associate Professor, Pediatrics, University of Washington School of Medicine
Medical Genetics
Dr. Margaret R. Adam, MD
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Doctor Margaret R. Adam, MD is an expert in the field of Medical Genetics. She studied medicine at Stanford University School of Medicine. Stanford University School of Medicine is a top medical university. Stanford University School of Medicine is ranked 2 in research and 25 in primary care medicine She over the years received 1 awards: "Regional Top Doctor". Margaret Adam is a published doctor and has 32 publications published. The lastest was: 'A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.'
Publications
- A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
- A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
- Exome sequencing for the diagnosis of 46,XY disorders of sex development.
- Prevalence and characteristics of fetal alcohol spectrum disorders.
- Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
- Sensenbrenner syndrome (Cranioectodermal Dysplasia): Clinical and molecular analyses of 39 patients including two new patients.
- Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
- Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- The all-or-none phenomenon revisited.
- Ambiguous genitalia: what prenatal genetic testing is practical?
- Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
- Evolving knowledge of the teratogenicity of medications in human pregnancy.
- Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
- Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
- A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
- Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
- A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
- A family with a 1.17 Mb deletion of 12q12: refining genotype-phenotype correlation.
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
- Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
- Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
- Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
- Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
- Mowat-Wilson syndrome with craniosynostosis: a case report.
- Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
- Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
- Clinical features and management issues in Mowat-Wilson syndrome.
- Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
- Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
- Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
Schools
Univ Of Ct Sch Of Med
Temple University Hospital
George Washington University Med Center
Doctors Specialties
- Internal Medicine
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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Stanford University -
Stanford University School of Medicine
Hospital
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Seattle Children's Hospital
Drug Facts
| NPI NUMBER | 1700812237 | |
| NPPES Provider LastName | ADAM | |
| NPPES Provider FirstName | MARGARET | |
| NPPES Provider ZIPCode | 981011015 | |
| NPPES Provider State | WA | |
| Specialty Description | Internal Medicine | |
| Total Claim Count | 3561.0 | |
| Distinct Opioid Count | 3.0 | |
| Opioid Claim Count | 77.0 | |
| Percent Opioid Claims | 2.16 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1700812237 |
| Last Name Of The Provider | ADAM |
| First Name Of The Provider | MARGARET |
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