| Publication | Publisher | Title | Published |
|---|
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Methods-Based Proficiency Testing in Molecular Genetic Pathology | 2014 |
| Other Publication | Archives of pathology & laboratory medicine | Current landscape and new paradigms of proficiency testing and exterl quality | 2013 |
| Other Publication | CLINICAL GENETICS | Identification of the CFTR p.Phe508Del founder mutation | 2013 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Integration of Genomic Medicine into Pathology Residency Training The Stanford Open Curriculum | 2013 |
| Other Publication | PeerJ | Feasibility of using microbeads with holographic barcodes to track D specimens | 2013 |
| Other Publication | Schrijver, I., Gojenola, L., Merker, J. D., O'Grady, N., Dao, M. H., L | Feasibility of Using Microbeads with Holographic Barcodes to Track D Specimens | 2012 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing A Report of the | 2012 |
| Other Publication | Aziz, N., Lynn, B., Driscoll, D., Gibson, J., Grody, W., Hegde, M., Ho | College of American Pathologists' Laboratory St | 2012 |
| Other Publication | MOLECULAR GENETICS AND METABOLISM | Increased incidence of profound biotinidase deficiency among Hispanic newborns in California | 2012 |
| Other Publication | GENETICS IN MEDICINE | Molecular genetic testing for fraglie X syndrome | 2012 |
| Other Publication | CLEFT PALATE-CRANIOFACIAL JOURL | Alysis of the Altertive Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation | 2012 |
| Other Publication | GENETICS IN MEDICINE | Allelic discrimition of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I | 2011 |
| Other Publication | JOURL OF CLINICAL MICROBIOLOGY | Ultrasensitive Detection of Drug-Resistant Pandemic 2009 | 2011 |
| Other Publication | GENETIC TESTING AND MOLECULAR BIOMARKERS | Cystic Fibrosis Carrier Screening in Obstetric Clinical Practice: Knowledge, Practices | 2011 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Mutation Alysis of SLC26A4 for Pendred Syndrome | 2011 |
| Other Publication | AMERICAN JOURL OF SURGICAL PATHOLOGY | Evaluation of a Gene Expression Microarray | 2011 |
| Other Publication | MODERN PATHOLOGY | A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal | 2011 |
| Other Publication | PLOS ONE | Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854) | 2011 |
| Other Publication | CLINICAL CHEMISTRY | Mutation Distribution in Expanded Screening for Cystic Fibrosis | 2011 |
| Other Publication | OTOLOGY & NEUROTOLOGY | Diagnostic Yield in the Workup of Congenital Sensorineural Hearing Loss Is Dependent on Patient | 2011 |
| Other Publication | NUCLEIC ACIDS RESEARCH | Identification of rare D variants in mitochondrial disorders with improved array-based sequencing | 2011 |
| Other Publication | HUMAN PATHOLOGY | Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation | 2010 |
| Other Publication | PLOS ONE | Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss | 2010 |
| Other Publication | AMERICAN JOURL OF SURGICAL PATHOLOGY | A 30-month-old Child With Acute Rel Failure Due to Primary Rel Cytotoxic T-cell Lymphoma | 2010 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Combined Use of PCR-Based TCRG | 2010 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Rare Sequence Variation in the Genome Flanking a Short T | 2010 |
| Other Publication | AMERICAN JOURL OF CLINICAL PATHOLOGY | Comprehensive and Efficient HBB Mutation Alysis for Detection of beta-Hemoglobinopathies in a Pan | 2010 |
| Other Publication | GENETICS IN MEDICINE | Connexin-26-associated deafness: Phenotypic variability and progression of hearing loss | 2010 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Design and Evaluation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild | 2010 |
| Other Publication | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | The digenic hypothesis unraveled | 2009 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Development and Characterization of Reference Materials for MTHFR | 2009 |
| Other Publication | EXPERIMENTAL CELL RESEARCH | The role of the cytoskeleton in the formation of gap junctions by Connexin 30 | 2009 |
| Other Publication | GENETICS IN MEDICINE | Mitochondrial D alysis by multiplex deturing high-performance liquid chromatography | 2009 |
| Other Publication | Schrijver, I., Rodriguez-Paris, J., Lodahl, M., Khababa, I., PIQUE, L. | Diagnostic Value of a Primer Extension Microarray for Sensorineural Hearing Loss | 2008 |
| Other Publication | Merker, J. D., Jones, C. D., Oh, S. T., Khan, S., Schrijver, I., Gotli | Design and Validation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild | 2008 |
| Other Publication | ANLS OF CLINICAL AND LABORATORY SCIENCE | Genetic Alysis of Presbycusis by Arrayed Primer Extension | 2008 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Multiplex ligation-dependent probe amplification identification of whole exon | 2008 |
| Other Publication | AMERICAN JOURL OF SURGICAL PATHOLOGY | Microsatellite instability | 2008 |
| Other Publication | PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AM | Profound functiol and sigling changes in viable inflammatory neutrophils homing to cystic fibrosis | 2008 |
| Other Publication | Expert opinion on medical diagnostics | Inherited hearing loss: molecular genetics and diagnostic testing. | 2008 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Interlaboratory performance of a microarray | 2008 |
| Other Publication | GENETICS IN MEDICINE | Identification of an intronic single nucleotide polymorphism leading to allele dropout during | 2007 |
| Other Publication | JOURL OF THE AMERICAN ACADEMY OF DERMATOLOGY | T-cell clolity alysis in biopsy specimens from two different skin sites shows high specificity in | 2007 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Testing for materl cell contamition in pretal samples | 2007 |
| Other Publication | GENETICS IN MEDICINE | A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations | 2007 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Comprehensive arrayed primer extension array for the detection of 59 sequence variants | 2007 |
| Other Publication | Schrijver, I., Rodriguez-Paris, J., Zehnder, J. L., Pollack, J. R. | Clinical evaluation of a novel oncologic tissue of origin assay based on gene expression microarray | 2007 |
| Other Publication | INTERTIOL JOURL OF PEDIATRIC OTORHINOLARYNGOLOGY | Two patients with the V371/235delC genotype | 2006 |
| Other Publication | PEDIATRICS | Simultaneous multigene mutation detection | 2006 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation alysis | 2006 |
| Other Publication | EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | Hereditary sensorineural hearing loss: advances in molecular genetics and mutation alysis | 2006 |
| Other Publication | Schrijver, I., Rodriguez-Paris, J., Gardner, P. | Advanced mutation detection for hereditary sensorineural hearing loss through a comprehensive | 2006 |
| Other Publication | AMERICAN JOURL OF HUMAN GENETICS | GJB2 mutations and degree of hearing loss: A multicenter study | 2005 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Genotyping microarray for the detection of more than 200 CFTR mutations | 2005 |
| Other Publication | INTERTIOL JOURL OF SURGICAL PATHOLOGY | Identification of mislabeled specimen by molecular methods: Case report and review | 2005 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Diagnostic testing by CFTR gene mutation alysis in a large group of Hispanics novel mutations | 2005 |
| Other Publication | THROMBOSIS AND HAEMOSTASIS | High frequency of premature termition mutations in the factor V gene | 2005 |
| Other Publication | SCIENCE | Gender differences and performance in science | 2005 |
| Other Publication | Am J Med Genet. | Novel Contributions to the Asian CFTR mutation spectrum | 2005 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Hereditary non-syndromic sensorineural hearing loss - Transforming silence to sound | 2004 |
| Other Publication | GENETIC TESTING | Rapid combined genotyping assay for four achondroplasia | 2004 |
| Other Publication | JOURL OF MOLECULAR DIAGNOSTICS | Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation | 2003 |
| Other Publication | AMERICAN JOURL OF CLINICAL PATHOLOGY | Diagnostic single nucleotide polymorphism alysis of factor V Leiden | 2003 |
| Other Publication | JOURL OF CLINICAL MICROBIOLOGY | Labor and cost requirements of two commercial assays for qualitative molecular detection of | 2002 |
| Other Publication | AMERICAN JOURL OF HUMAN GENETICS | Premature termition mutations in FBN1 | 2002 |
| Other Publication | BLOOD | Homozygous factor V splice site mutation associated with severe factor V deficiency | 2002 |
| Other Publication | JOURL OF NEUROSURGERY | Spontaneous spil cerebrospil fluid leaks and minor skeletal features of Marfan syndrome | 2002 |
| Other Publication | THROMBOSIS AND HAEMOSTASIS | Novel factor VC2-domain mutation (R2074H) in two families with factor V deficiency and bleeding | 2002 |
| Other Publication | BMC medical genetics | Multi-exon deletions of the FBN1 gene in Marfan syndrome. | 2001 |
| Other Publication | AMERICAN JOURL OF HUMAN GENETICS | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1 | 1999 |
| Other Publication | HUMAN GENETICS | The pathogenicity of the Pro1148Ala substitution in the FBN1 gene | 1997 |
| Other Publication | Br J Opthalmol | Retil dystrophy in long-chain 3-hydroxy-acyl-CoA dehydrogese deficiency | 1997 |
