Associate Professor, Pediatrics, University of Washington School of Medicine
Medical Genetics
Dr. Margaret P. Adam, MD
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Dr. Margaret P. Adam works in the field of Medical Genetics. He went to Stanford University School of Medicine. Stanford University School of Medicine is one of the top medical schools in the US. Stanford University School of Medicine is ranked 2/25 in Research/PrimaryCare. He received awards:"Regional Top Doctor". Margaret Adam is also published. He has 32 publications published. The lastest publication: "A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.' Margaret Adam is registered with Medicare.
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
Stanford University
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Choice Plus POS II
- Blue Card PPO
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Commercial Insurance Company
- First Choice Health PPO
- First Health (Coventry Health Care) PPO
- Coop Core
- Connect
- Medicaid
- Medicare MCR
- Molina
- ODS Health Plan
- Heritage Plus
- Heritage Signature
- Personal Option EPO
- Preferred Provider Network PPN
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
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
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