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BENJAMIN ROA, PHD
PHD
Clinical Molecular Genetics Physician
NPI: 1679145528Individual
Specialties, Licenses & Credentials
Clinical Molecular Genetics PhysicianPrimary
Medical Genetics — Clinical Molecular Genetics
Code: 207SG0203X
ROAXB1(NY)
Research & Publications (20)
Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).
PMID 19360696·Curr Protoc Hum Genet·2009
8-other
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.
PMID 18324688·Am J Med Genet A·2008
8-other
Consensus characterization of 16 FMR1 reference materials: a consortium study.
PMID 18165276·J Mol Diagn·2008
8-other
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
PMID 18027081·J Autism Dev Disord·2008
8-other
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
PMID 17304050·Genet Med·2007
4-observational
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.
PMID 17420323·Arch Neurol·2007
5-case
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
PMID 15875198·Childs Nerv Syst·2006
5-case
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
PMID 17172942·Genet Med·2006
5-case
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
PMID 17108764·Genet Med·2006
4-observational
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
PMID 17041943·Am J Med Genet A·2006
8-other
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
PMID 16385455·Am J Hum Genet·2006
4-observational
Detecting mutations in the APC gene in familial adenomatous polyposis (FAP).
PMID 18428386·Curr Protoc Hum Genet·2006
6-review
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
PMID 15924278·Am J Hum Genet·2005
8-other
Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome.
PMID 16283670·Am J Med Genet A·2005
5-case
Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.
PMID 16255630·Expert Rev Mol Diagn·2005
6-review
Developing a sustainable process to provide quality control materials for genetic testing.
PMID 16247292·Genet Med·2005
6-review
Juvenile onset Huntington disease resulting from a very large maternal expansion.
PMID 16096998·Am J Med Genet A·2005
5-case
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.
PMID 15781839·Neurology·2005
5-case
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
PMID 15689438·J Med Genet·2005
8-other
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.
PMID 15505178·Neurology·2004
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 322 N 2200 W
SALT LAKE CITY, UT 84116 - Phone
- (801) 584-3600
Quick Facts
- NPI
- 1679145528
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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