Back to Search
LISA SHAFFER, PH.D.
PH.D.
NPI: 1578511937Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
STS 4427(WA)
Research & Publications (20)
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
PMID 18646242·Prenat Diagn·2008
4-observational
Microarray analysis for constitutional cytogenetic abnormalities.
PMID 17873655·Genet Med·2007
6-review
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
PMID 17873649·Genet Med·2007
4-observational
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.
PMID 17290441·Am J Med Genet C Semin Med Genet·2007
6-review
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
PMID 17910076·Am J Med Genet C Semin Med Genet·2007
6-review
Medical applications of array CGH and the transformation of clinical cytogenetics.
PMID 17124414·Cytogenet Genome Res·2006
6-review
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.
PMID 16491515·Prenat Diagn·2006
8-other
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
PMID 16860135·J Pediatr·2006
8-other
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
PMID 19500772·Am J Hum Genet·2009
8-other
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
PMID 19597142·Proc Natl Acad Sci U S A·2009
8-other
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
PMID 19128483·Mol Cytogenet·2009
8-other
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
PMID 19353629·Am J Med Genet A·2009
8-other
Incidental findings in the cervical spine at CT for trauma evaluation.
PMID 19234270·AJR Am J Roentgenol·2009
8-other
Development and validation of an assay for iodide in serum using ion chromatography with pulsed amperometric detection.
PMID 19259884·Inhal Toxicol·2009
4-observational
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
PMID 19271239·Hum Genet·2009
8-other
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
PMID 19193630·Hum Mol Genet·2009
8-other
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.
PMID 19664229·Mol Cytogenet·2009
8-other
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PMID 19668335·PLoS One·2009
8-other
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
PMID 19365269·Genet Med·2009
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
- 44 W 6TH AVE, SUITE 202
SPOKANE, WA 99204 - Phone
- (509) 474-6840
Quick Facts
- NPI
- 1578511937
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile