Physician

Medical Genetics

Dr. Roberta A. Pagon works in the field of Medical Genetics. She over the years received 1 awards: "Whos Who in Medicine and Healthcare". Roberta Pagon is a published physician as well. She has 94 publications published. The latest was: Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.

Publications

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• Ambiguous genitalia: what prenatal genetic testing is practical?
• Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties.
• Partial ATRX gene duplication causes ATR-X syndrome.
• Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.
• Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
• Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
• A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
• 2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.
• A Gender Assessment Team: experience with 250 patients over a period of 25 years.
• GeneTests: an online genetic information resource for health care providers.
• Genetic testing: when to test, when to refer.
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
• Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
• GeneTests-GeneClinics: genetic testing information for a growing audience.
• Recommendations of the 2006 Human Variome Project meeting.
• Genetics through a primary care lens.
• Molecular genetic testing for inherited disorders.
• Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
• Genetic testing for disease susceptibilities: consequences for genetic counseling.
• Mother to son transmission of del(1) (q42.1q42.3).
• Genetic consultation.
• The helix and health: applying genetics to primary care.
• Online medical genetics resources: a US perspective.
• The virtues of the virtual world.
• GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing.
• Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
• Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
• Autosomal dominant inheritance of Barber-Say syndrome.
• Phenotypic spectrum and management issues in Kabuki syndrome.
• Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.
• Mutation analysis of UBE3A in Angelman syndrome patients.
• Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
• CHARGE association: an update and review for the primary pediatrician.
• DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
• Multilocus FISH analysis.
• Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
• Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.
• Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
• Prevalence of hypopigmented macules in a healthy population.
• Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
• Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children.
• Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.
• Mosaic isochromosome 8p.
• Familial hydrocephalus with a low-insertion umbilicus.
• Phenotypic correlations of ocular coloboma without known cause.
• Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)
• The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
• Okihiro syndrome.
• Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
• Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.
• A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly.
• Re: True agonadism: report of a case analyzed with Y-specific DNA probes.
• HARD +/- E: Warburg's syndrome.
• Abnormalities of sexual differentiation in campomelic dwarfs.
• Rothmund-Thomson syndrome with severe dwarfism.
• Familial arthritis and camptodactyly.
• Possible autosomal-recessive ocular coloboma.
• Hepatic involvement in the Bardet-Biedl syndrome.
• CHARGE association.
• Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.
• The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of...
• Ocular coloboma.
• Müllerian anomalies and renal agenesis: autosomal dominant urogenital adysplasia.
• X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.
• Clinical-ultrastructural study of a retinal dystrophy.
• Teschler-Nicola/Killian syndrome.
• Informed consent for research publication of patient-related data.
• Septo-optic dysplasia with digital anomalies.
• Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3).
• Arteriohepatic dysplasia: phenotypic features and family studies.
• Autosomal recessive eye and brain anomalies: Warburg syndrome.
• Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
• Amniotic adhesion malformations.
• Female pseudohermaphroditism with anorectal, müllerian duct, and urinary tract malformations: report of four cases.
• Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.
• Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syn...
• Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
• Molecular detection of a translocation (Y;15) in a 45,X male.
• Kabuki make-up syndrome in a Caucasian.
• ''Leopard spot'' retinopathy in Warburg syndrome.
• Congenital anomalies and aberrant tissue bands.
• Williams syndrome: features in late childhood and adolescence.
• Calvarial hyperostosis: a benign X-linked recessive disorder.
• Nonfluorescent dicentric Y in males with hypospadias.
• Visceral myopathy of the gastrointestinal and genitourinary tracts in infants.
• Laurence-Moon syndrome?
• Holoprosencephaly: prenatal sonographic diagnosis.
• Diagnostic approach to the newborn with ambiguous genitalia.
• Heterozygote detection in X-linked recessive incomplete achromatopsia.
• Velo-cardio-facial syndrome vs. CHARGE "association".
• Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.
• Diagnostic criteria for Walker-Warburg syndrome.
• Retinal neovascularization in Potter''s syndrome secondary to renal agenesis.

Schools

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• Harvard Medical School

• Chldns Hospital and Mc

• University Wa Affil Hosps

• University Wa

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Whos Who in Medicine and Healthcare

Hospital

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• Seattle Children's Hospital

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