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LAUREN SHAFFER, M.D.
M.D.
Emergency Medicine Physician
NPI: 1952375180Individual
Specialties, Licenses & Credentials
Emergency Medicine PhysicianPrimary
Emergency Medicine
Code: 207P00000X
J1387(TX)
Research & Publications (20)
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
Development and validation of an assay for iodide in serum using ion chromatography with pulsed amperometric detection.
PMID 19259884·Inhal Toxicol·2009
4-observational
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
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PMID 19668335·PLoS One·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
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
Incidental findings in the cervical spine at CT for trauma evaluation.
PMID 19234270·AJR Am J Roentgenol·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
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
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
PMID 19365269·Genet Med·2009
8-other
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
PMID 19271239·Hum Genet·2009
8-other
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
PMID 18811697·Clin Genet·2008
5-case
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).
PMID 18765821·Genome Res·2008
8-other
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
PMID 18958851·Am J Med Genet A·2008
5-case
Clinical utility of contemporary molecular cytogenetics.
PMID 18949852·Annu Rev Genomics Hum Genet·2008
6-review
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
PMID 18924166·Am J Med Genet A·2008
5-case
An instructive case of an 8-year-old boy with intellectual disability.
PMID 19073314·Semin Pediatr Neurol·2008
5-case
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.
PMID 19006213·Am J Med Genet A·2008
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 120 E HARRIS AVE
SAN ANGELO, TX 76903 - Phone
- (325) 657-5222
Quick Facts
- NPI
- 1952375180
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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