Chief, Intellectual and Developmental Disabilities Branch, NICHD, NIH

Medical Genetics

Dr. Melissa A. Parisi practices Medical Genetics. He graduated from Stanford University School of Medicine. Stanford University School of Medicine is a top medical university. Stanford University School of Medicine has a rank of 2 in research and a 25 in primary care Melissa Parisi has written publications. He has 31 publications published with PubMed. The lastest paper is: 'MKS1 regulates ciliary INPP5E levels in Joubert syndrome.'

Publications

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• MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
• Phenylketonuria Scientific Review Conference: State of the science and future research needs.
• Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12.
• Ambiguous genitalia: what prenatal genetic testing is practical?
• We don't know what we don't study: The case for research on medication effects in pregnancy.
• Conference proceedings: "Down syndrome: National conference on patient registries, research databases, and biobanks"
• Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.
• Cilia and the ciliopathies: an introduction.
• Clinical and molecular features of Joubert syndrome and related disorders.
• MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
• Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effe...
• CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
• A Gender Assessment Team: experience with 250 patients over a period of 25 years.
• Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
• Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive tech...
• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
• A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
• Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.
• Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- mice.
• Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.
• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
• Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
• Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
• Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
• Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice.
• Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
• Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.
• Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
• Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Schools

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• Stanford University

• University Of Wa

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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• Cigna HMO
• Cigna PPO
• Great West Healthcare-Cigna PPO
• Open Access Plus
• First Choice Health PPO
• ODS Health Plan
• Personal Option EPO

Education

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• University of Washington
• Stanford University School of Medicine

Hospital

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• Seattle Children's Hospital
• Swedish Medical Center-Cherry Hill Campus

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