Iris Schrijver
Publications
- Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient. Clin Genet. 2013; (6): 598-9
- Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Mol Genet Metab. 2012; (4): 485-7
- Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn. 2012; (6): 525-40
- Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers. 2011 Jul-Aug; (7-8): 517-23
- A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. Mod Pathol. 2011; (7): 1004-14
- Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). PLoS One. 2011; (6): e21665
- Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T). Genet Med. 2011; (12): 1025-31
- Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity. Otol Neurotol. 2011; (1): 81-7
- Evaluation of a gene expression microarray-based assay to determine tissue type of origin on a diverse set of 49 malignancies. Am J Surg Pathol. 2011; (7): 1030-7
- Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Res. 2011; (1): 44-58
- Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. J Mol Diagn. 2011; (4): 416-26
- Mutation distribution in expanded screening for cystic fibrosis: making up the balance in a context of ethnic diversity. Clin Chem. 2011; (6): 799-801
- Ultrasensitive detection of drug-resistant pandemic 2009 (H1N1) influenza A virus by rare-variant-sensitive high-resolution melting-curve analysis. J Clin Microbiol. 2011; (7): 2602-9
- A 30-month-old child with acute renal failure due to primary renal cytotoxic T-cell lymphoma. Am J Surg Pathol. 2010; (7): 1066-70
- Combined use of PCR-based TCRG and TCRB clonality tests on paraffin-embedded skin tissue in the differential diagnosis of mycosis fungoides and inflammatory dermatoses. J Mol Diagn. 2010; (3): 320-7
- Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. Am J Clin Pathol. 2010; (5): 700-7
- Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. Genet Med. 2010; (3): 174-81
- Design and evaluation of a real-time PCR assay for quantification of JAK2 V617F and wild-type JAK2 transcript levels in the clinical laboratory. J Mol Diagn. 2010; (1): 58-64
- Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. PLoS One. 2010; (7): e11804
- Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Hum Pathol. 2010; (8): 1200-3
- Rare sequence variation in the genome flanking a short tandem repeat locus can lead to a question of "nonmaternity". J Mol Diagn. 2010; (3): 384-9
- Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn. 2009; (6): 553-61
- Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genet Med. 2009; (2): 118-26
- The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun. 2009; (2): 354-9
- The role of the cytoskeleton in the formation of gap junctions by Connexin 30. Exp Cell Res. 2009; (10): 1683-92
- Genetic analysis of presbycusis by arrayed primer extension. Ann Clin Lab Sci. 2008; (4): 352-60
- Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers. J Mol Diagn. 2008; (1): 67-77
- Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger. Am J Surg Pathol. 2008; (7): 1029-37
- Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn. 2008; (4): 368-75
- Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways. Proc Natl Acad Sci U S A. 2008; (11): 4335-9
- A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007; (7): 413-26
- Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. J Mol Diagn. 2007; (2): 228-36
- Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays. Genet Med. 2007; (11): 752-60
- T-cell clonality analysis in biopsy specimens from two different skin sites shows high specificity in the diagnosis of patients with suggested mycosis fungoides. J Am Acad Dermatol. 2007; (5): 782-90
- Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn. 2007; (3): 394-400
- Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis. J Mol Diagn. 2006; (3): 330-4
- Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis. Expert Rev Mol Diagn. 2006; (3): 375-86
- Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics. 2006; (3): 985-94
- Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype? Int J Pediatr Otorhinolaryngol. 2006; (12): 2109-13
- Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005; (2): 289-99
- GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005; (6): 945-57
- Gender differences and performance in science. Science. 2005; (5712): 1043
- Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J Mol Diagn. 2005; (3): 375-87
- High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. Thromb Haemost. 2005; (3): 610-1
- Identification of mislabeled specimen by molecular methods: case report and review. Int J Surg Pathol. 2005; (3): 253-8
- Novel Contributions to the Asian CFTR mutation spectrum: genotype and phenotype in Thai patients with cystic fibrosis. Am J Med Genet.. 2005: 103-5
- Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn. 2004; (4): 275-84
- Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. Genet Test. 2004; (2): 185-9
- Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler. Am J Clin Pathol. 2003; (4): 490-6
- Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation. J Mol Diagn. 2003; (4): 250-3
- Homozygous factor V splice site mutation associated with severe factor V deficiency. Blood. 2002; (8): 3063-5
- Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus. J Clin Microbiol. 2002; (9): 3476-7
- Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. Thromb Haemost. 2002; (2): 294-9
- Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet. 2002; (2): 223-37
- Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. J Neurosurg. 2002; (3): 483-9
- Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med Genet. 2001: 11
- Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet. 1999; (4): 1007-20
- Retinal dystrophy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency Br J Opthalmol. 1997: 291-4
- The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Hum Genet. 1997; (5): 607-11
Help
Trial Administration