Professor of Pediatrics, Part-time, Harvard Medical School; Staff Geneticist, MGH

Medical Genetics

Angela works in the field of Medical Genetics. She graduated from Jefferson Medical College. She received 6 awards: "Fellowship Teaching Award", "Distinguished Service Award", "Appreciation (Co-Director, Professional Advisory Board)", "Appreciation (Medical Advisory Board)", "Fellow (FAAP)" and "Fellow FACMG". Angela is also published. She has 65 publications published. The lastest publication: "Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology.'

Publications

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• A MORN1-associated HAD phosphatase in the basal complex is essential for Toxoplasma gondii daughter budding.
• Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology.
• Sixteenth-century German woodcut of a male infant with possible disorganization.
• Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology.
• Turner syndrome and meningioma: Support for a possible increased risk of neoplasia in Turner syndrome.
• Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997 - 2007.
• Sensenbrenner syndrome (Cranioectodermal Dysplasia): Clinical and molecular analyses of 39 patients including two new patients.
• Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, o...
• Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome.
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
• Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
• Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
• Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.
• Alterations in expression and phosphorylation of GluA1 receptors following cocaine-cue extinction learning.
• Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
• Selected birth defects data from population-based birth defects surveillance programs in the United States, 2005–2009: Featuring critical congenital heart defects targ...
• Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
• Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
• Case records of the Massachusetts General Hospital. Case 11-2011. A 47-year-old man with systemic lupus erythematosus and heart failure.
• An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.
• Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
• Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
• Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
• Aortic dissection and moyamoya disease in Turner syndrome.
• Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
• Living with Costello syndrome: quality of life issues in older individuals.
• Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
• Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
• Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome.
• Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.
• Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
• Turner syndrome is an independent risk factor for aortic dilation in the young.
• The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
• Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposiu...
• TFAP2A mutations result in branchio-oculo-facial syndrome.
• Clarification of previously reported Costello syndrome patients.
• Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.
• Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
• First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects.
• Focus on the heart and aorta in Turner syndrome.
• Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.
• Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network.
• Writing for scientific publication: tips for getting started.
• Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
• HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
• Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
• Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
• Further delineation of Kabuki syndrome in 48 well-defined new individuals.
• Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
• Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics.
• Clonazepam use in pregnancy and the risk of malformations.
• 47,XXX associated with malformations.
• A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
• Participation by clinical geneticists in genetic advocacy groups.
• Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
• Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.
• O patient, where art thou?
• The heart of Turner syndrome: small matters.
• Further delineation of cardiac abnormalities in Costello syndrome.
• Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.
• Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
• The Value of Aortic Valve and Aortic Arch Imaging in the Identification of Genetic Syndromes.

Schools

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• Jefferson Medical College Of Thomas Jefferson University Thomas Jefferson University

• Chldns Hospital

• UCLA Med Center

• West Penn Hospital

Procedures Preformed

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• Cardiac Imaging

Conditions Treated

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• Syncope

Doctors Specialties

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• Pediatric Cardiology
• Medical Genetics

Accepted Insurances

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Awards

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• Fellowship Teaching Award
• Distinguished Service Award
• Appreciation (Co-Director, Professional Advisory Board)
• Appreciation (Medical Advisory Board)
• Fellow (FAAP)
• Fellow FACMG

Education

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• Allegheny General Hospital - Western Pennsylvania Hospital
• Children's Hospital of Philadelphia
• UCLA Medical Center
• University of Pittsburgh Medical Center
• Jefferson Medical College

Hospital

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• Newton-Wellesley Hospital
• Massachusetts General Hospital

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