Iris Schrijver

Professor of Pathology and, by courtesy, of Pediatrics (Genetics) at the Stanford University Medical Center

Professional Education

Medical Education: University of Utrecht (1994) Netherlands

Residency: Stanford University School of Medicine (2002) CA

Internship: Stanford University School of Medicine (2000) CA

Board Certification: Clinical Pathology, American Board of Pathology (2002)

Board Certification: Clinical Molecular Genetics, American Board of Medical Genetics (1999)

MD, Utrecht University, Medicine (1994)

Honors & Awards

Lifetime Achievement Award, College of American Pathologists (2013)

Young Clinical Scientist Award Association of Clinical Scientists, Association of Clinical Scientists (2007)

Sheard Sanford Pathology Resident Award, American Society for Clinical Pathology (2001)

Administrative Appointments

Director, Molecular Pathology laboratory, Stanford University (2003 - Present)

Director, Molecular Genetic Pathology fellowship program, Stanford University (2003 - Present)

Associate Program Director for Clinical Pathology residency training, Stanford University (2008 - Present)

Medical Director (license holder), Stanford Clinical Laboratory at North Campus, Stanford University (2013 - Present)

Medical Director (license holder), Point-of-Care testing (Stanford North Campus), Stanford University (2013 - Present)

Methods-Based Proficiency Testing in Molecular Genetic Pathology
Schrijver, I., Aziz, N., Jennings, L. J., Richards, C. S., Voelkerding, K. V., & Weck, K. E. (2014). Methods-Based Proficiency Testing in Molecular Genetic Pathology. JOURNAL OF MOLECULAR DIAGNOSTICS, 16(3), 283-287.

Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics
Kalman, L. V., Lubin, I. M., Barker, S., Du Sart, D., Elles, R., & Zehnbauer, B. (2013). Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 137(7), 983-998.

Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient
Dharajiya, N., Chisholm, K. M., Dietz, L., Richards, C. S., Kharrazi, M., & Schrijver, I. (2013). Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient. CLINICAL GENETICS, 83(6), 598-599.

Integration of Genomic Medicine into Pathology Residency Training The Stanford Open Curriculum
Schrijver, I., Natkunam, Y., Galli, S., & Boyd, S. D. (2013). Integration of Genomic Medicine into Pathology Residency Training The Stanford Open Curriculum. JOURNAL OF MOLECULAR DIAGNOSTICS, 15(2), 141-148.

Feasibility of using microbeads with holographic barcodes to track DNA specimens in the clinical molecular laboratory.
Merker, J. D., O'Grady, N., Gojenola, L., Dao, M., Lenta, R., & Schrijver, I. (2013). Feasibility of using microbeads with holographic barcodes to track DNA specimens in the clinical molecular laboratory. PeerJ, 1.

Feasibility of Using Microbeads with Holographic Barcodes to Track DNA Specimens in the Molecular Pathology Laboratory
Schrijver, I., Gojenola, L., Merker, J. D., O'Grady, N., Dao, M. H., & Yeakley, J. M. (2012). Feasibility of Using Microbeads with Holographic Barcodes to Track DNA Specimens in the Molecular Pathology Laboratory. JOURNAL OF MOLECULAR DIAGNOSTICS, 14(6), 735-735.

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing A Report of the Association for Molecular Pathology
Schrijver, I., Aziz, N., Farkas, D. H., Furtado, M., Gonzalez, A. F., & Gibson, J. S. (2012). Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing A Report of the Association for Molecular Pathology. JOURNAL OF MOLECULAR DIAGNOSTICS, 14(6), 525-540.

College of American Pathologists' Laboratory Standards for Next Generation Sequence Clinical Testing
Aziz, N., Lynn, B., Driscoll, D., Gibson, J., Grody, W., & Voelkerding, K. V. (2012). College of American Pathologists' Laboratory Standards for Next Generation Sequence Clinical Testing. JOURNAL OF MOLECULAR DIAGNOSTICS, 14(6), 742-742.

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California
Cowan, T. M., Kazerouni, N. N., Dharajiya, N., Lorey, F., Roberson, M., & Schrijver, I. (2012). Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. MOLECULAR GENETICS AND METABOLISM, 106(4), 485-487.

Molecular genetic testing for fraglie X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)
Weck, K. E., Zehnbauer, B., Datto, M., & Schrijver, I. (2012). Molecular genetic testing for fraglie X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). GENETICS IN MEDICINE, 14(3), 306-312.

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report
Traynis, I., Bernstein, J. A., Gardner, P., & Schrijver, I. (2012). Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report. CLEFT PALATE-CRANIOFACIAL JOURNAL, 49(1), 104-108.

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. (2011). Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T). GENETICS IN MEDICINE, 13(12), 1025-1031.

Ultrasensitive Detection of Drug-Resistant Pandemic 2009 (H1N1) Influenza A Virus by Rare-Variant-Sensitive High-Resolution Melting-Curve Analysis
Chen, N., Pinsky, B. A., Lee, B. P., Lin, M., & Schrijver, I. (2011). Ultrasensitive Detection of Drug-Resistant Pandemic 2009 (H1N1) Influenza A Virus by Rare-Variant-Sensitive High-Resolution Melting-Curve Analysis. JOURNAL OF CLINICAL MICROBIOLOGY, 49(7), 2602-2609.

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. (2011). Cystic Fibrosis Carrier Screening in Obstetric Clinical Practice: Knowledge, Practices, and Barriers, a Decade After Publication of Screening Guidelines. GENETIC TESTING AND MOLECULAR BIOMARKERS, 15(7-8), 517-523.

Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting
Chen, N., Tranebjaerg, L., Rendtorff, N. D., & Schrijver, I. (2011). Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting. JOURNAL OF MOLECULAR DIAGNOSTICS, 13(4), 416-426.

Evaluation of a Gene Expression Microarray-based Assay to Determine Tissue Type of Origin on a Diverse Set of 49 Malignancies
Beck, A. H., Rodriguez-Paris, J., Zehnder, J., & Schrijver, I. (2011). Evaluation of a Gene Expression Microarray-based Assay to Determine Tissue Type of Origin on a Diverse Set of 49 Malignancies. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 35(7), 1030-1037.

A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas
Mojtahed, A., Schrijver, I., Ford, J. M., Longacre, T. A., & Pai, R. K. (2011). A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. MODERN PATHOLOGY, 24(7), 1004-1014.

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)
Rodriguez-Paris, J., Tamayo, M. L., Gelvez, N., & Schrijver, I. (2011). Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854). PLOS ONE.

Mutation Distribution in Expanded Screening for Cystic Fibrosis: Making Up the Balance in a Context of Ethnic Diversity
Schrijver, I. (2011). Mutation Distribution in Expanded Screening for Cystic Fibrosis: Making Up the Balance in a Context of Ethnic Diversity. CLINICAL CHEMISTRY, 57(6), 799-801.

Diagnostic Yield in the Workup of Congenital Sensorineural Hearing Loss Is Dependent on Patient Ethnicity
Chan, D. K., Schrijver, I., & Chang, K. W. (2011). Diagnostic Yield in the Workup of Congenital Sensorineural Hearing Loss Is Dependent on Patient Ethnicity. OTOLOGY & NEUROTOLOGY, 32(1), 81-87.

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
Wang, W., Shen, P., Thiyagarajan, S., Lin, S., Palm, C., & Scharfe, C. (2011). Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. NUCLEIC ACIDS RESEARCH, 39(1), 44-58.

Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation
Matsukuma, K. E., Mullins, F. M., Dietz, L., Zehnder, J. L., Ford, J. M., & Schrijver, I. (2010). Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. HUMAN PATHOLOGY, 41(8), 1200-1203.

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. (2010). Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice. PLOS ONE, 5(7).

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, J. Pt. (2010). A 30-month-old Child With Acute Renal Failure Due to Primary Renal Cytotoxic T-cell Lymphoma. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 34(7), 1066-1070.

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, A. H., Taube, J. M., Kohler, S., Seo, K., & Zehnder, J. L. (2010). 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. JOURNAL OF MOLECULAR DIAGNOSTICS, 12(3), 320-327.

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. (2010). Rare Sequence Variation in the Genome Flanking a Short Tandem Repeat Locus Can Lead to a Question of "Nonmaternity". JOURNAL OF MOLECULAR DIAGNOSTICS, 12(3), 384-389.

Comprehensive and Efficient HBB Mutation Analysis for Detection of beta-Hemoglobinopathies in a Pan-Ethnic Population
Chan, O. Tm., Westover, K. D., Dietz, L., Zehnder, J. L., & Schrijver, I. (2010). Comprehensive and Efficient HBB Mutation Analysis for Detection of beta-Hemoglobinopathies in a Pan-Ethnic Population. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 133(5), 700-707.

Connexin-26-associated deafness: Phenotypic variability and progression of hearing loss
Chan, D. K., Schrijver, I., & Chang, K. W. (2010). Connexin-26-associated deafness: Phenotypic variability and progression of hearing loss. GENETICS IN MEDICINE, 12(3), 174-181.

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, J. D., Jones, C. D., Oh, S. T., Schrijver, I., Gotlib, J., & Zehnder, J. L. (2010). Design and Evaluation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild-Type JAK2 Transcript Levels in the Clinical Laboratory. JOURNAL OF MOLECULAR DIAGNOSTICS, 12(1), 58-64.

The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
Rodriguez-Paris, J., & Schrijver, I. (2009). The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 389(2), 354-359.

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing
Barker, S. D., Bale, S., Booker, J., Buller, A., Das, S., & Kalman, L. V. (2009). Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing. JOURNAL OF MOLECULAR DIAGNOSTICS, 11(6), 553-561.

The role of the cytoskeleton in the formation of gap junctions by Connexin 30
Qu, C., Gardner, P., & Schrijver, I. (2009). The role of the cytoskeleton in the formation of gap junctions by Connexin 30. EXPERIMENTAL CELL RESEARCH, 315(10), 1683-1692.

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
Schrijver, I., Pique, L. M., Traynis, I., Scharfe, C., & Sehnert, A. J. (2009). Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. GENETICS IN MEDICINE, 11(2), 118-126.

Diagnostic Value of a Primer Extension Microarray for Sensorineural Hearing Loss: A Study of Danish Individuals
Schrijver, I., Rodriguez-Paris, J., Lodahl, M., Khababa, I., PIQUE, L., & Tranebjaerg, L. (2008). Diagnostic Value of a Primer Extension Microarray for Sensorineural Hearing Loss: A Study of Danish Individuals. JOURNAL OF MOLECULAR DIAGNOSTICS, 10(6), 571-571.

Design and Validation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild-type JAK2 Transcript Levels
Merker, J. D., Jones, C. D., Oh, S. T., Khan, S., Schrijver, I., & Zehnder, J. L. (2008). Design and Validation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild-type JAK2 Transcript Levels. JOURNAL OF MOLECULAR DIAGNOSTICS, 10(6), 581-581.

Genetic Analysis of Presbycusis by Arrayed Primer Extension
Rodriguez-Paris, J., Ballay, C., Inserra, M., Stidham, K., Colen, T., & Schrijver, I. (2008). Genetic Analysis of Presbycusis by Arrayed Primer Extension. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 38(4), 352-360.

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, L.-J. (2008). Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. JOURNAL OF MOLECULAR DIAGNOSTICS, 10(4), 368-375.

Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger
Jensen, K. C., Mariappan, M. R., Putcha, G. V., Husain, A., Chun, N., & Longacre, T. A. (2008). Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 32(7), 1029-1037.

Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways
Tirouvanziam, R., Gernez, Y., Conrad, C. K., Moss, R. B., Schrijver, I., & Herzenberg, L. A. (2008). Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 105(11), 4335-4339.

Inherited hearing loss: molecular genetics and diagnostic testing.
Vele, O., & Schrijver, I. (2008). Inherited hearing loss: molecular genetics and diagnostic testing. Expert opinion on medical diagnostics, 2(3), 231-248.

Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers
Dumur, C. I., Lyons-Weiler, M., Sciulli, C., Garrett, C. T., Schrijver, I., & Monzon, F. A. (2008). Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers. JOURNAL OF MOLECULAR DIAGNOSTICS, 10(1), 67-77.

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, F. M., Dietz, L., Lay, M., Zehnder, J. L., Ford, J., & Schrijver, I. (2007). 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. GENETICS IN MEDICINE, 9(11), 752-760.

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, S. E., Zhang, B., Kim, Y. H., Schrijver, I., Zehnder, J., & Kohler, S. (2007). T-cell clonality analysis in biopsy specimens from two different skin sites shows high specificity in the diagnosis of patients with suggested mycosis fungoides. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 57(5), 782-790.

Testing for maternal cell contamination in prenatal samples - A comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories
Schrijver, I., Cherny, S. C., & Zehnder, J. L. (2007). Testing for maternal cell contamination in prenatal samples - A comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. JOURNAL OF MOLECULAR DIAGNOSTICS, 9(3), 394-400.

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Putcha, G. V., Bejjani, B. A., Bleoo, S., Booker, J. K., Carey, J. C., & Schrijver, I. (2007). A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. GENETICS IN MEDICINE, 9(7), 413-426.

Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population
Schrijver, I., Kulm, M., Gardner, P. I., Pergament, E. P., & Fiddler, M. B. (2007). Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. JOURNAL OF MOLECULAR DIAGNOSTICS, 9(2), 228-236.

Clinical evaluation of a novel oncologic tissue of origin assay based on gene expression microarray.
Schrijver, I., Rodriguez-Paris, J., Zehnder, J. L., & Pollack, J. R. (2007). Clinical evaluation of a novel oncologic tissue of origin assay based on gene expression microarray. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 37(2), 197-197.

Two patients with the V371/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?
Schrijver, I., & Chang, K. W. (2006). Two patients with the V371/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 70(12), 2109-2113.

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. (2006). Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up. PEDIATRICS, 118(3), 985-994.

Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis
Lay, M., Mariappan, R., Gotlib, J., Dietz, L., Sebastian, S., & Zehnder, J. L. (2006). Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis. JOURNAL OF MOLECULAR DIAGNOSTICS, 8(3), 330-334.

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis
Schrijver, I., & Gardner, P. (2006). Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 6(3), 375-386.

Advanced mutation detection for hereditary sensorineural hearing loss through a comprehensive microarray.
Schrijver, I., Rodriguez-Paris, J., & Gardner, P. (2006). Advanced mutation detection for hereditary sensorineural hearing loss through a comprehensive microarray. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 36(2), 227-227.

GJB2 mutations and degree of hearing loss: A multicenter study
Snoeckx, R. L., Huygen, P. Lm., Feldmann, D., Marlin, S., Denoyelle, F., & Van Camp, G. (2005). GJB2 mutations and degree of hearing loss: A multicenter study. AMERICAN JOURNAL OF HUMAN GENETICS, 77(6), 945-957.

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
Schrijver, I., Oitmaa, E., Metspalu, A., & Gardner, P. (2005). Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. JOURNAL OF MOLECULAR DIAGNOSTICS, 7(3), 375-387.

Identification of mislabeled specimen by molecular methods: Case report and review
Mariappan, M. R., Zehnder, J., Arber, D. A., Lay, M., Fadare, O., & Schrijver, R. (2005). Identification of mislabeled specimen by molecular methods: Case report and review. INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 13(3), 253-258.

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, C. Lm., & Kammesheidt, A. (2005). Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics novel mutations and assessment of a population-specific mutation spectrum. JOURNAL OF MOLECULAR DIAGNOSTICS, 7(2), 289-299.

High frequency of premature termination mutations in the factor V gene: Three factor V deficiency case reports and a mutation review
Schrijver, I., Hong, D. W., Mandle, L., Jones, C. D., DiMichele, D., & Zehnder, J. L. (2005). High frequency of premature termination mutations in the factor V gene: Three factor V deficiency case reports and a mutation review. THROMBOSIS AND HAEMOSTASIS, 93(3), 610-611.

Gender differences and performance in science
Muller, C. B., Ride, S. M., Fouke, J., Whitney, F., Denton, D. D., & Robinson, S. (2005). Gender differences and performance in science. SCIENCE, 307(5712), 1043-1043.

Novel Contributions to the Asian CFTR mutation spectrum: genotype and phenotype in Thai patients with cystic fibrosis.
Schrijver, I., Karnsakul, W., Ramalingam, S., & P. (2005). Novel Contributions to the Asian CFTR mutation spectrum: genotype and phenotype in Thai patients with cystic fibrosis. Am J Med Genet., 133A.

Hereditary non-syndromic sensorineural hearing loss - Transforming silence to sound
Schrijver, I. (2004). Hereditary non-syndromic sensorineural hearing loss - Transforming silence to sound. JOURNAL OF MOLECULAR DIAGNOSTICS, 6(4), 275-284.

Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes
Schrijver, I., Lay, M. J., & Zehnder, J. L. (2004). Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. GENETIC TESTING, 8(2), 185-189.

Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation
Schrijver, I., Lenzi, T. J., Jones, C. D., Lay, M. J., Druzin, M. L., & Zehnder, J. L. (2003). Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation. JOURNAL OF MOLECULAR DIAGNOSTICS, 5(4), 250-253.

Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A - A comparison of the nanogen electronic microarray with restriction enzyme digestion and the Roche LightCycler
Schrijver, I., Lay, M. J., & Zehnder, J. L. (2003). Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A - A comparison of the nanogen electronic microarray with restriction enzyme digestion and the Roche LightCycler. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 119(4), 490-496.

Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus
Schrijver, I., & Baron, E. J. (2002). Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus. JOURNAL OF CLINICAL MICROBIOLOGY, 40(9), 3476-3477.

Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes
Schrijver, I., Liu, W. G., Odom, R., Brenn, T., Oefner, P., & Francke, U. (2002). Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes. AMERICAN JOURNAL OF HUMAN GENETICS, 71(2), 223-237.

Homozygous factor V splice site mutation associated with severe factor V deficiency
Schrijver, I., Koerper, M. A., Jones, C. D., & Zehnder, J. L. (2002). Homozygous factor V splice site mutation associated with severe factor V deficiency. BLOOD, 99(8), 3063-3065.

Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy
Schrijver, I., Schievink, W. I., Godfrey, M., Meyer, F. B., & FRANCKE, U. (2002). Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. JOURNAL OF NEUROSURGERY, 96(3), 483-489.

Novel factor VC2-domain mutation (R2074H) in two families with factor V deficiency and bleeding
Schrijver, I., Houissa-Kastally, R., Jones, C. D., Garcia, K. C., & Zehnder, J. L. (2002). Novel factor VC2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. THROMBOSIS AND HAEMOSTASIS, 87(2), 294-299.

Multi-exon deletions of the FBN1 gene in Marfan syndrome.
Liu, W., Schrijver, I., Brenn, T., FURTHMAYR, H., & FRANCKE, U. (2001). Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC medical genetics, 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. (1999). Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes. AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), 1007-1020.

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. G., & FRANCKE, U. (1997). The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: Causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?. HUMAN GENETICS, 99(5), 607-611.

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. (1997). Retinal dystrophy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Br J Opthalmol, 81.