| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Comparison of Whole Genome Mate Pair Sequencing (MPseq) with Karyotype and FISH for Breakpoint Detection in Hematologic Cancers
|
Johnson, Sarah H.
|
|
2016
|
209 |
6 |
p. 290-
1 p.
|
artikel
|
| 2 |
A Maternally Inherited 133 kb Deletion of 14q32.2q32.31 Associated with a Paternal Uniparental Disomy 14 Phenotype
|
Vallee, Stephanie E.
|
|
2016
|
209 |
6 |
p. 301-
1 p.
|
artikel
|
| 3 |
An Approach for Estimating Percent Aberrant and Absolute Copy Number per Event from SNP Arrays and NGS Technologies
|
Shams, Soheil
|
|
2016
|
209 |
6 |
p. 293-294
2 p.
|
artikel
|
| 4 |
Anchored Multiplex PCR Enables Comprehensive Profiling of Thyroid and Lung Cancer Mutations by Next Generation Sequencing
|
Haimes, Josh
|
|
2016
|
209 |
6 |
p. 288-
1 p.
|
artikel
|
| 5 |
Anchored Multiplex PCR Enables NGS-Based Detection of FLT3-ITDs
|
Bessette, Marc
|
|
2016
|
209 |
6 |
p. 285-
1 p.
|
artikel
|
| 6 |
A Rare Variant Pediatric Ph+ Acute Lymphoblastic Leukemia with Five Copies of the BCR-ABL1 Fusion Characterized by FISH, Cytogenetics, and SNP Microarray
|
Carstens, Billie J.
|
|
2016
|
209 |
6 |
p. 285-286
2 p.
|
artikel
|
| 7 |
ATRX driver mutation in a composite malignant pheochromocytoma
|
Comino-Méndez, Iñaki
|
|
2016
|
209 |
6 |
p. 272-277
6 p.
|
artikel
|
| 8 |
Beyond HER2: Evaluating the Status of Additional Clinically Relevant Biomarkers in HER2-Positive Breast Cancers
|
Haskell, Gloria T.
|
|
2016
|
209 |
6 |
p. 289-
1 p.
|
artikel
|
| 9 |
Brigham and Women's Hospital's Experience Correlating Cytogenetic and Sequencing Panel Results for Management of Myeloid Disorders
|
McIntyre, Kelsey
|
|
2016
|
209 |
6 |
p. 291-
1 p.
|
artikel
|
| 10 |
Can SNP-Arrays Predict Specific Morphologic and Immunophenotypic Results in Myelodysplastic Syndromes?
|
McElhone, Scott W.
|
|
2016
|
209 |
6 |
p. 291-
1 p.
|
artikel
|
| 11 |
Challenges of Cell Free Fetal DNA Follow-Up Testing for Rare Chromosome Abnormalities: Lessons from Two Recent Cases
|
LeRoux, Jamie
|
|
2016
|
209 |
6 |
p. 298-
1 p.
|
artikel
|
| 12 |
Characterization of a Novel Inverted Tandem Duplication by Mate Pair Sequencing (MPseq)
|
Baughn, Linda
|
|
2016
|
209 |
6 |
p. 296-297
2 p.
|
artikel
|
| 13 |
Chromosomal Microarray in the Era of Next Generation Sequencing: Still Going Strong and Making a Difference in Patient Care. Cases from Medical University of South Carolina
|
Znoyko, Iya
|
|
2016
|
209 |
6 |
p. 296-
1 p.
|
artikel
|
| 14 |
Chromothripsis-Like Pattern in Chromosome 17q12 Is Associated with HER2 Amplification in Breast Cancer
|
Lin, Kevin
|
|
2016
|
209 |
6 |
p. 290-291
2 p.
|
artikel
|
| 15 |
Clinical Utility of Biocartis Idylla in Colorectal Cancer Patients' Tissue and Plasma
|
Patel, Khushali
|
|
2016
|
209 |
6 |
p. 293-
1 p.
|
artikel
|
| 16 |
Commentary regarding Schayek et al., entitled “The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil”
|
Sales Luiz Vianna, Fernanda
|
|
2016
|
209 |
6 |
p. 282-283
2 p.
|
artikel
|
| 17 |
Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors
|
Grafodatskaya, Daria
|
|
2016
|
209 |
6 |
p. 287-
1 p.
|
artikel
|
| 18 |
Copy Number Detection in Exome Sequencing Compared to Chromosomal Microarray in a Clinical Setting
|
Rajagopalan, Ramakrishnan
|
|
2016
|
209 |
6 |
p. 300-
1 p.
|
artikel
|
| 19 |
Cover
|
|
|
2016
|
209 |
6 |
p. CO1-
1 p.
|
artikel
|
| 20 |
Detection of Copy Number Variants by Next Generation Sequencing is Driven by Genomic DNA Integrity
|
Haimes, Josh D.
|
|
2016
|
209 |
6 |
p. 288-
1 p.
|
artikel
|
| 21 |
Detection of Exon-Centric Copy Number Changes and Mutations with Customizable Target Enrichment
|
Jeong, Kyeong Soo
|
|
2016
|
209 |
6 |
p. 298-
1 p.
|
artikel
|
| 22 |
Development and Clinical Validation of Large Fusion Panel for Pediatric and Adult Cancers
|
Chang, Fengqi
|
|
2016
|
209 |
6 |
p. 286-
1 p.
|
artikel
|
| 23 |
Development of a Clinical Grade Interpretive Tool for Neoplastic Genomic Microarray Testing
|
Cao, Yang
|
|
2016
|
209 |
6 |
p. 285-
1 p.
|
artikel
|
| 24 |
Editorial Board
|
|
|
2016
|
209 |
6 |
p. CO2-
1 p.
|
artikel
|
| 25 |
Enabling More Complete Genome Analysis Using 10x Linked-Reads
|
Jabara, Cassandra B.
|
|
2016
|
209 |
6 |
p. 297-
1 p.
|
artikel
|
| 26 |
Establishing a murine xenograft-model for long-term analysis of factors inducing chromosomal instability in myelodysplastic syndrome: Pitfalls and successes
|
Salari, Azam
|
|
2016
|
209 |
6 |
p. 258-266
9 p.
|
artikel
|
| 27 |
Exploring and Mapping the Life Cycle of Precision Medicine Data
|
Quackenbush, John X.
|
|
2016
|
209 |
6 |
p. 293-
1 p.
|
artikel
|
| 28 |
Genomic Profiling of Plasmablastic Lymphoma Reveals Recurrent Copy Number Alterations and MYC Rearrangement as Common Genetic Abnormalities
|
Ji, Jianling
|
|
2016
|
209 |
6 |
p. 290-
1 p.
|
artikel
|
| 29 |
Getting to Know Your LCRs: Recognizing and Interpreting Atypical CNVs in Recurrent Syndromic Microdeletion/Duplication Regions Mediated by Alternative Low Copy Repeat Elements
|
Rowsey, Ross A.
|
|
2016
|
209 |
6 |
p. 300-
1 p.
|
artikel
|
| 30 |
HaloPlexHS Utilizes Molecular Barcodes to Improve Low Frequency Allele Detection
|
Zobeck, Katie L.
|
|
2016
|
209 |
6 |
p. 296-
1 p.
|
artikel
|
| 31 |
HER2 Assessment by MIP Microarray in a Breast Cancer Patient with Equivocal HER2 Status
|
Chen, Hui
|
|
2016
|
209 |
6 |
p. 286-287
2 p.
|
artikel
|
| 32 |
Hyperhaploid uterine mesenchymal tumors—a novel genetic subgroup?
|
Holzmann, Carsten
|
|
2016
|
209 |
6 |
p. 278-281
4 p.
|
artikel
|
| 33 |
Identification of Novel and Recurrent Copy Number Abnormalities (CNAs) in Pediatric High Grade B-Cell Lymphoma by Chromosomal Microarray
|
Hagiya, Ashley S.
|
|
2016
|
209 |
6 |
p. 287-288
2 p.
|
artikel
|
| 34 |
Impact of SNP CMA on Patient Management in 3338 Extensively Followed Individuals at the Greenwood Genetic Center
|
Chaubey, Alka
|
|
2016
|
209 |
6 |
p. 297-
1 p.
|
artikel
|
| 35 |
Implementation of Genomic Assays for Tumor Genome Profiling in a Clinical Laboratory Setting
|
Murray, Sarah S.
|
|
2016
|
209 |
6 |
p. 292-293
2 p.
|
artikel
|
| 36 |
Implementation of Genotyping Cell Free Nucleic Acid in Plasma Using Next Generation Sequencing Platforms in a Clinical Laboratory
|
Mehrotra, Meenakshi
|
|
2016
|
209 |
6 |
p. 291-292
2 p.
|
artikel
|
| 37 |
Lineage switch with t(6;11)(q27;q23) from T-cell lymphoblastic lymphoma to acute monoblastic leukemia at relapse
|
Higuchi, Yusuke
|
|
2016
|
209 |
6 |
p. 267-271
5 p.
|
artikel
|
| 38 |
Liquid Biopsy: Comparison of Mutation Detection Methods for Measurement of RET M918T Circulating Cell-Free DNA in Medullary Thyroid Cancer Patients
|
Evers, Caitlin
|
|
2016
|
209 |
6 |
p. 287-
1 p.
|
artikel
|
| 39 |
Molecular Characterization of Recurrent Partial Gene Duplications by Whole Genome Mate-Pair Sequencing (MPseq) to Improve the Accuracy of Chromosomal Microarray Reporting
|
Porath, Binu
|
|
2016
|
209 |
6 |
p. 299-300
2 p.
|
artikel
|
| 40 |
Molecular Cytogenetics Using Linked-Reads
|
Church, Deanna M.
|
|
2016
|
209 |
6 |
p. 297-
1 p.
|
artikel
|
| 41 |
Summary of 262 Samples from 46 Patients Received for Preimplantation Genetic Screening by Array CGH: Hints at Early Stage Embryo Development
|
Smolarek, Teresa A.
|
|
2016
|
209 |
6 |
p. 300-
1 p.
|
artikel
|
| 42 |
Systematic Mapping of Chromosomal Breakpoints in the Context of Phenotypes and Nuclear Genome Organization
|
Tommerup, Niels
|
|
2016
|
209 |
6 |
p. 301-
1 p.
|
artikel
|
| 43 |
Table of Contents
|
|
|
2016
|
209 |
6 |
p. A1-
1 p.
|
artikel
|
| 44 |
The Clinical Utility of a Combined Approach of CMA and NGS in Melanoma
|
Stokes, Jordan
|
|
2016
|
209 |
6 |
p. 295-
1 p.
|
artikel
|
| 45 |
The Constitutional Microarray Comparative Genomic Hybridization (aCGH) Experience at the Joana de Gusmão Children's Hospital
|
Ocampos, Maristela
|
|
2016
|
209 |
6 |
p. 299-
1 p.
|
artikel
|
| 46 |
The Cytogenomics of Pediatric T-Cell Acute Lymphoblastic Leukemia
|
Meredith, Matthew M.
|
|
2016
|
209 |
6 |
p. 292-
1 p.
|
artikel
|
| 47 |
The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil
|
Schayek, Hagit
|
|
2016
|
209 |
6 |
p. 283-284
2 p.
|
artikel
|
| 48 |
Toward Standardized Reporting and Databasing of Polyploid Tumors
|
Hauenstein, Jennifer E.
|
|
2016
|
209 |
6 |
p. 289-
1 p.
|
artikel
|
| 49 |
Tumor Culture for Chromosome Analysis: Children's Mercy Cytogenetics Laboratory 15-Year Database of Methods
|
Smith, Scott C.
|
|
2016
|
209 |
6 |
p. 294-
1 p.
|
artikel
|
| 50 |
Two DNA Tests Accurately Classify Gliomas into Five Molecular Groups with Prognostic and Predictive Significance
|
Yamada, Seiji
|
|
2016
|
209 |
6 |
p. 295-
1 p.
|
artikel
|
| 51 |
Use of a Next Generation Sequencing (NGS) Panel to Determine Related Donor Eligibility in a Case of Pediatric Myelodysplastic Syndrome (MDS)
|
Harb, Jason
|
|
2016
|
209 |
6 |
p. 288-289
2 p.
|
artikel
|
| 52 |
Utility of Genome-Wide Characterization of B-Cell Acute Lymphoblastic Leukemia Using SNP-Based Microarray
|
Monahan, Christine S.
|
|
2016
|
209 |
6 |
p. 292-
1 p.
|
artikel
|
| 53 |
Utility of Genomic Methylation Microarrays to Measure Spreading of X-Inactivation in Association with X;Autosome Translocations
|
McCready, Elizabeth
|
|
2016
|
209 |
6 |
p. 299-
1 p.
|
artikel
|
| 54 |
Utility of OncoScan Array Testing to Further Characterize Eleven Medulloblastoma Cases
|
Rustin, Jeannette G.
|
|
2016
|
209 |
6 |
p. 293-
1 p.
|
artikel
|
| 55 |
Utility of Whole Genome SNP Microarray and Targeted Somatic Mutations in Evaluation of Melanoma, Histologic Mimics of Melanoma, and Glioblastoma
|
Chaubey, Alka
|
|
2016
|
209 |
6 |
p. 286-
1 p.
|
artikel
|
| 56 |
Validation of a Multiplex Capillary Electrophoresis-Based Assay for Simultaneous Detection of the Common and Uncommon BCR-ABL1 Transcripts
|
Huang, Richard Sheng Poe
|
|
2016
|
209 |
6 |
p. 289-290
2 p.
|
artikel
|
| 57 |
What's Next in Cytogenetics: Molecular Characterization of De Novo Apparently Balanced Chromosomal Rearrangements to Assess Pathogenicity by Whole Genome Mate Pair Sequencing
|
Marcou, Cherisse A.
|
|
2016
|
209 |
6 |
p. 298-
1 p.
|
artikel
|
| 58 |
Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma
|
Melo, Flavia M.
|
|
2016
|
209 |
6 |
p. 251-257
7 p.
|
artikel
|
| 59 |
Whole Exome Sequencing Elucidates Genomic Evolution of Extramedullary Acute Myeloid Leukemia (EM-AML) from Bone Marrow Acute Myeloid Leukemia (BM-AML)
|
Yap, Kai Lee
|
|
2016
|
209 |
6 |
p. 295-296
2 p.
|
artikel
|
| 60 |
Whole-Genome Mate-Pair Sequencing (MPseq) Improves Genomic Characterization of Patients with Hematologic Malignancies
|
Smoley, Stephanie A.
|
|
2016
|
209 |
6 |
p. 294-295
2 p.
|
artikel
|
| 61 |
Whole Genome SNP Array Improves Diagnosis and Therapy in Pediatric Brain Tumors
|
Shao, Lina
|
|
2016
|
209 |
6 |
p. 294-
1 p.
|
artikel
|
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