Iris Schrijver

Publications

• Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient. Dharajiya N, Chisholm K, Dietz L, Sue Richards C, Kharrazi M, Schrijver I. Clin Genet. 2013; 83 (6): 598-9
• Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Cowan TM, Kazerouni NN, Dharajiya N, Lorey F, Roberson M, Hodgkinson C, Schrijver I. Mol Genet Metab. 2012; 106 (4): 485-7
• Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS. J Mol Diagn. 2012; 14 (6): 525-40
• Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Darcy D, Tian L, Taylor J, Schrijver I. Genet Test Mol Biomarkers. 2011 Jul-Aug; 15 (7-8): 517-23
• A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. Mojtahed A, Schrijver I, Ford JM, Longacre TA, Pai RK. Mod Pathol. 2011; 24 (7): 1004-14
• Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I. PLoS One. 2011; 6 (6): e21665
• Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T). Chen N, Schrijver I. Genet Med. 2011; 13 (12): 1025-31
• Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity. Chan DK, Schrijver I, Chang KW. Otol Neurotol. 2011; 32 (1): 81-7
• Evaluation of a gene expression microarray-based assay to determine tissue type of origin on a diverse set of 49 malignancies. Beck AH, Rodriguez-Paris J, Zehnder J, Schrijver I. Am J Surg Pathol. 2011; 35 (7): 1030-7
• Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Nucleic Acids Res. 2011; 39 (1): 44-58
• Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. Chen N, Tranebjærg L, Rendtorff ND, Schrijver I. J Mol Diagn. 2011; 13 (4): 416-26
• Mutation distribution in expanded screening for cystic fibrosis: making up the balance in a context of ethnic diversity. Schrijver I, Clin Chem. 2011; 57 (6): 799-801
• Ultrasensitive detection of drug-resistant pandemic 2009 (H1N1) influenza A virus by rare-variant-sensitive high-resolution melting-curve analysis. Chen N, Pinsky BA, Lee BP, Lin M, Schrijver I. J Clin Microbiol. 2011; 49 (7): 2602-9
• A 30-month-old child with acute renal failure due to primary renal cytotoxic T-cell lymphoma. Paladugu S, Garro R, Schrijver I, Kambham N, Higgins JP. Am J Surg Pathol. 2010; 34 (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. Zhang B, Beck AH, Taube JM, Kohler S, Seo K, Zwerner J, Viakhereva N, Sundram U, Kim YH, Schrijver I, Arber DA, Zehnder JL. J Mol Diagn. 2010; 12 (3): 320-7
• Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. Chan OT, Westover KD, Dietz L, Zehnder JL, Schrijver I. Am J Clin Pathol. 2010; 133 (5): 700-7
• Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. Chan DK, Schrijver I, Chang KW. Genet Med. 2010; 12 (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. Merker JD, Jones CD, Oh ST, Schrijver I, Gotlib J, Zehnder JL. J Mol Diagn. 2010; 12 (1): 58-64
• Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. Rodriguez-Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I. PLoS One. 2010; 5 (7): e11804
• Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Matsukuma KE, Mullins FM, Dietz L, Zehnder JL, Ford JM, Chun NM, Schrijver I. Hum Pathol. 2010; 41 (8): 1200-3
• Rare sequence variation in the genome flanking a short tandem repeat locus can lead to a question of "nonmaternity". Deucher A, Chiang T, Schrijver I. J Mol Diagn. 2010; 12 (3): 384-9
• Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. J Mol Diagn. 2009; 11 (6): 553-61
• Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Genet Med. 2009; 11 (2): 118-26
• The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Rodriguez-Paris J, Schrijver I. Biochem Biophys Res Commun. 2009; 389 (2): 354-9
• The role of the cytoskeleton in the formation of gap junctions by Connexin 30. Qu C, Gardner P, Schrijver I. Exp Cell Res. 2009; 315 (10): 1683-92
• Genetic analysis of presbycusis by arrayed primer extension. Rodriguez-Paris J, Ballay C, Inserra M, Stidham K, Colen T, Roberson J, Gardner P, Schrijver I. Ann Clin Lab Sci. 2008; 38 (4): 352-60
• Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers. Dumur CI, Lyons-Weiler M, Sciulli C, Garrett CT, Schrijver I, Holley TK, Rodriguez-Paris J, Pollack JR, Zehnder JL, Price M, Hagenkord JM, Rigl CT, Buturovic LJ, Anderson GG, Monzon FA. J Mol Diagn. 2008; 10 (1): 67-77
• Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger. Jensen KC, Mariappan MR, Putcha GV, Husain A, Chun N, Ford JM, Schrijver I, Longacre TA. Am J Surg Pathol. 2008; 32 (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. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. J Mol Diagn. 2008; 10 (4): 368-75
• Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways. Tirouvanziam R, Gernez Y, Conrad CK, Moss RB, Schrijver I, Dunn CE, Davies ZA, Herzenberg LA, Herzenberg LA. Proc Natl Acad Sci U S A. 2008; 105 (11): 4335-9
• A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Genet Med. 2007; 9 (7): 413-26
• Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. Schrijver I, Külm M, Gardner PI, Pergament EP, Fiddler MB. J Mol Diagn. 2007; 9 (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. Mullins FM, Dietz L, Lay M, Zehnder JL, Ford J, Chun N, Schrijver I. Genet Med. 2007; 9 (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. Thurber SE, Zhang B, Kim YH, Schrijver I, Zehnder J, Kohler S. J Am Acad Dermatol. 2007; 57 (5): 782-90
• Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. Schrijver I, Cherny SC, Zehnder JL. J Mol Diagn. 2007; 9 (3): 394-400
• Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis. Lay M, Mariappan R, Gotlib J, Dietz L, Sebastian S, Schrijver I, Zehnder JL. J Mol Diagn. 2006; 8 (3): 330-4
• Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis. Schrijver I, Gardner P. Expert Rev Mol Diagn. 2006; 6 (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. Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I. Pediatrics. 2006; 118 (3): 985-94
• Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype? Schrijver I, Chang KW. Int J Pediatr Otorhinolaryngol. 2006; 70 (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. Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A. J Mol Diagn. 2005; 7 (2): 289-99
• GJB2 mutations and degree of hearing loss: a multicenter study. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Am J Hum Genet. 2005; 77 (6): 945-57
• Gender differences and performance in science. Muller CB, Ride SM, Fouke J, Whitney T, Denton DD, Cantor N, Nelson DJ, Plummer J, Busch-Vishniac I, Meyers C, Rosser SV, Schiebinger L, Roberts E, Burgess D, Beeson C, Metz SS, Sanders L, Watford BA, Ivey ES, Frank Fox M, Wettack S, Klawe M, Wulf WA, Girgus J, Leboy PS, Babco EL, Shanahan B, Didion C, Chubin DE, Frize M, Ganter SL, Nalley EA, Franz J, Abruña HD, Strober MH, Zimmer Daniels J, Carter EA, Rhodes JH, Schrijver I, Zakian VA, Simons B, Martin U, Boaler J, Jolluck KR, Mankekar P, Gray RM, Conkey MW, Stansky P, Xie A, Martin P, Katehi LP, Miller JA, Tess Thornton A, Lapaugh A, Rhode DL, Gelpi BC, Harrold MJ, Spencer CM, Schlatter Ellis C, Lord S, Quinn H, Murnane M, Jones PP, Hellman F, Wight G, O'hara R, Pickering M, Sheppard S, Leith D, Paytan A, Sommer MH, Shafer A, Grusky D, Yennello S, Madan A, Johnson DL, Yanagisako S, Chou-Green JM, Robinson S. Science. 2005; 307 (5712): 1043
• Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. Schrijver I, Oitmaa E, Metspalu A, Gardner P. J Mol Diagn. 2005; 7 (3): 375-87
• High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. Schrijver I, Hong DW, Mandle L, Jones CD, DiMichele D, Monahan PE, Zehnder JL. Thromb Haemost. 2005; 93 (3): 610-1
• Identification of mislabeled specimen by molecular methods: case report and review. Mariappan MR, Zehnder J, Arber DA, Lay M, Fadare O, Schrijver I. Int J Surg Pathol. 2005; 13 (3): 253-8
• Novel Contributions to the Asian CFTR mutation spectrum: genotype and phenotype in Thai patients with cystic fibrosis. Schrijver, I, Karnsakul, W., Ramalingam, S., Sankaran, R., Limwongse, C., Moss, R., Gardner, P. Am J Med Genet.. 2005: 133A 103-5
• Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. Schrijver I, J Mol Diagn. 2004; 6 (4): 275-84
• Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. Schrijver I, Lay MJ, Zehnder JL. Genet Test. 2004; 8 (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. Schrijver I, Lay MJ, Zehnder JL. Am J Clin Pathol. 2003; 119 (4): 490-6
• Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation. Schrijver I, Lenzi TJ, Jones CD, Lay MJ, Druzin ML, Zehnder JL. J Mol Diagn. 2003; 5 (4): 250-3
• Homozygous factor V splice site mutation associated with severe factor V deficiency. Schrijver I, Koerper MA, Jones CD, Zehnder JL. Blood. 2002; 99 (8): 3063-5
• Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus. Schrijver I, Baron EJ. J Clin Microbiol. 2002; 40 (9): 3476-7
• Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. Schrijver I, Houissa-Kastally R, Jones CD, Garcia KC, Zehnder JL. Thromb Haemost. 2002; 87 (2): 294-9
• Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. Am J Hum Genet. 2002; 71 (2): 223-37
• Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U. J Neurosurg. 2002; 96 (3): 483-9
• Multi-exon deletions of the FBN1 gene in Marfan syndrome. Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. BMC Med Genet. 2001: 2 11
• Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Am J Hum Genet. 1999; 65 (4): 1007-20
• Retinal dystrophy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency Schrijver-Wieling, I, Van Rens, G.H.M.N., Wittebol-Post, D., et al.. Br J Opthalmol. 1997: 81 291-4
• The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Schrijver I, Liu W, Francke U. Hum Genet. 1997; 99 (5): 607-11