August 2018

Editorial Board

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent

• Zöe Powis,
• Carin R. Espenschied,
• Holly LaDuca,
• ...
• James Knost,
• Elizabeth C. Chao,
• Sha Tang

EGFL7 and RASSF1 promoter hypermethylation in epithelial ovarian cancer

• Yanisa Rattanapan,
• Veerawat Korkiatsakul,
• Adcharee Kongruang,
• ...
• Budsaba Rerkamnuaychoke,
• Anna Wongkularb,
• Sarikapan Wilailak

1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experience

• Laura K. Conlin,
• Brooke Weckselblatt,
• Jinbo Fan,
• ...
• Matthew C. Dulik,
• Nancy B. Spinner,
• Minjie Luo

2. Two patients demonstrating the rare phenomenon of rod/ring mosaicism

• Natasha T. Strande,
• Melissa A. Hayden,
• Alexis F. Poss,
• ...
• Arthur S. Aylsworth,
• Kathleen W. Rao,
• Kathleen Kaiser-Rogers

3. Unusual case of mosaic Robertsonian Down syndrome with three cell lines and review of history of Robertsonian translocations at Greenwood Genetic Center

• Barbara DuPont,
• Frank Bartel,
• Alka Chaubey

4. Non-invasive prenatal screening: Understanding the underlying mechanisms for discordance

• Rupa Udani,
• Kim Oxendine,
• Jennifer Laffin,
• Vanessa Horner

5. Modeling Synovial Sarcoma from initiation through metastasis

• Mario Capecchi

6. An algorithm to maximize detection of double/triple hit diffuse large B-cell lymphomas while reducing workload for the cytogenetic laboratory

• Hana Aviv,
• Ivana Maxwell,
• Lauri Goodell,
• James Van Gurp

7. Clinical implications of cytogenetic heterogeneities in BCR-ABL1 fusion positive adult B cell acute lymphoblastic leukemia

• Xinyan Lu

8. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasms

• Jodi Zockle,
• Brandon Chandler,
• Karen Delgado,
• Denise Quigley,
• Reha Toydemir,
• Erica Andersen

9. Detection of fusion genes from complex rearrangements reported by genome-wide mate-pair sequencing (MPseq)

• Sarah H Johnson,
• James Smadbeck,
• Faye Harris,
• ...
• Athanasios Gaitatzes,
• Stephen Murphy,
• George Vasmatzis

10. Improved detection of karyotype abnormalities in mature B-cell neoplasms through the utilization of CpG-oligonucleoties and interleukin-2 for B-lymphocyte stimulation

• Angela M. Lager,
• Sara Morrison- Delap,
• Randee Blumer,
• ...
• Lisa Leverton,
• Eric Johnson,
• Vanessa L. Horner

11. Thermo Fisher Scientific – Vendor presentation

12. Mate pair sequencing: Unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogenetics

• Nicole Hoppman,
• Stephanie Smoley,
• Beth Pitel,
• ...
• Ross Rowsey,
• Bill Sukov,
• Erik Thorland

13. Clinical utility of mate pair sequencing to detect diagnostic and prognostic chromosomal rearrangements and copy number changes in patients with acute myeloid leukemia

• Linda B. Baughn,
• Stephanie A. Smoley,
• Umut Aypar,
• ...
• Nicole L. Hoppman,
• Hutton M. Kearney,
• Patricia T. Greipp

14. Clinical mate-pair sequencing reveals complex genomic rearrangements in B-lymphoblastic leukemia/lymphoma (B-ALL)

• Cinthya J. Zepeda Mendoza,
• Stephanie A. Smoley,
• Sarah H. Johnson,
• ...
• George Vasmatzis,
• Nicole L. Hoppman,
• Rhett P. Ketterling

15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data

• Alka Chaubey,
• C. Alexander Valencia,
• Zeqiang Ma,
• ...
• Alice Tanner,
• Christin Collins,
• Madhuri Hegde

16. The evolutionary conserved developmental regulome define high risk regions for long range position effects

• Mana M Mehrjouy,
• Mads Bak,
• Peter Jacky,
• Niels Tommerup

17. CytoGPS: A novel bioinformatics approach for high-throughput karyotype analysis

• Zachary B. Abrams,
• Elvin Chu,
• Laura Z. Rassenti,
• ...
• Nyla A. Heerema,
• Adrian Dubuc,
• Paola Dal Cin

18. Identification of a cryptic PAX7-FOXO1 rearrangement and characterization of subsequent amplification using genomic microarray in a case of alveolar rhabdomyosarcoma

• Benjamin Hilton,
• Bo Hong,
• David Scharnhorst,
• Maria Longhurst,
• Kathryn O'Brien,
• Suying Xu

19. Targeted FISH in multiple myeloma – Experiences with different plasma cell enrichment techniques

• Leena Gole,
• Constance Chua,
• Yvoonne Tan,
• ...
• Lip Kun Tan,
• Wee Joo Chng,
• Xiaoli Sun

20. Two cases of acute myelogenous leukemia with positive FLT3- internal tandem duplication (ITD): Follow up and enrolment in clinical trials

• Matthew Tedder,
• Alka Chaubey,
• Brittany Hennigan,
• Ravindra B Kolhe

21. Clinical utility of comprehensive genomic profiling in pediatric acute leukemias

• Gordana Raca,
• Jianling Ji,
• Matthew Oberley,
• Deepa Bhojwani,
• Jaclyn Biegel,
• Matthew Hiemenz

22. Detection and characterization of disease-defining gene fusions in bone and soft tissue neoplasms by RNA-Seq

• Yajuan Liu

23. Prevalence of KANK1-NTRK3 fusion in renal metanephric adenomas that lack BRAF mutations

• Aida Catic,
• Amina Kurtovic-Kozaric,
• Ardis Sophian,
• ...
• Dinesh Rakheja,
• Jillene Kogan,
• Michael R Pins

24. Abbott Vysis IntelliFISH Hybridization Buffer evaluation on hematological specimens

• Cecelia R. Miller,
• Jadwiga Labanowska,
• Carly Tiefenthaeler,
• ...
• Herbert A. Marble,
• Nyla A. Heerema,
• Lynne V. Abruzzo

25. Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 loci

• Hussam Al-Kateb,
• Thomas Adams,
• Deborah Fuchs,
• ...
• Branden M Lau,
• Lee McGhan,
• Faiz Anwer

26. Correlation between bone marrow morphology, conventional cytogenetics and FISH in Myelodysplastic Syndrome: The legacy health experience

• Nisha Mathew,
• Jacob Smith,
• Emma Weirich,
• Donna Blackwell,
• Yassmine Akkari

27. Treating patients with lymphoma as a paradigm for “personalized medicine”

• James Armitage

28. Dosage sensitivity curation of recurrent copy number variant regions

• Erica Andersen,
• Rachel Burnside,
• Bradley Coe,
• ...
• Lei Zhang,
• Christa Lese Martin
• on behalf of the Clinical Genome Resource (ClinGen)

29. Development and validation of 15-min FISH hybridization technology for interphase and metaphase cytogenetic samples

• Ramesh Babu,
• Daniel L. Van Dyke,
• Stephen L. Papa,
• ...
• Stuart Schwartz,
• Peter Papenhausen,
• Prasad Koduru

30. Dynamic mosaicism of ring chromosomes as characterized by multiple cytogenetic methods: a ring 13 and ring 21 with discordant results between microarray, karyotype, and FISH

• T. Niroshi Senaratne,
• Sung-Hae L. Kang

31. Assessing telomere length and chromosome aberrations in twin and unrelated astronauts

• Susan M. Bailey,
• Miles J. McKenna,
• Lynn Taylor,
• Kerry A. George

32. Jumping genes in frogs; cytogenetic evidence that additional ribosomal gene locations in Hyla chrysoscelis (Cope's gray treefrog) are associated with mobile genetic elements

• John E. Wiley

33. SNP microarray autozygosity-directed mutation assessment of children and families with heritable retinal dystrophies in Costa Rica; identification of autosomal recessive mutations and one copy number variant

• Daynna J. Wolff,
• Iya Znoyko,
• W. Bailey Glen,
• Joaquin Martinez Arguedas,
• Rames Badilla Porras,
• Mae Millicent Peterseim

34. Meiotic recombination and chromosomal defects in hybrid beefalo and ruminant livestock spermatocytes

• Brenda M. Murdoch

35. Runs of homozygosity (ROH) reveal that segmental-UPD is associated with the repair of genomic imbalance

• Andrea Penton,
• Peter Papenhausen,
• Stuart Schwartz,
• James Tepperberg

36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysis

• Frank Bartel,
• Timothy Fee,
• Barbara DuPont

37. Microdeletions Including the RYR2 Gene Are Not Associated with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) in Four Unrelated Families

• Matthew Thomas,
• George McDaniel,
• Kaitlyn Amos,
• Eli Williams

38. Clinical cytogenetics training in a genomics world – Adapting to the laboratory genetics and genomics paradigm

• Ruthann B. Pfau,
• Yassmine Akkari

39. Lessons learned from supplementary testing in constitutional and hematologic cases

• Teresa A. Smolarek,
• Kristen Sund,
• Nicki Smith,
• ...
• Christine Phillips,
• K. Nicole Weaver,
• Lisa Dyer

40. Aneuploidy in humans: New insights into an age-old problem

• Terry Hassold

41. Feasibility of integrated testing for sequence and structural variants in the clinical setting

• Soheil Shams,
• Shalini Verma,
• Gordana Raca

42. Measuring and monitoring CRISPR-Cas9 off-target effects with directional genomic hybridization (dGH)

• Christopher Tompkins,
• Stephen Hughes,
• Molishree Joshi,
• Erin Robinson

43. Using directional genomic hybridization to discover and detect structural variation

• Miles McKenna,
• Erin Robinson,
• Susan Bailey,
• ...
• Michael Cornforth,
• Joel Bedford,
• Ed Goodwin

44. Ring chromosome 7 in patients with dysplastic features in bone marrow

• Prabakaran Paulraj,
• Srinivas Tantravahi,
• Anurag Reddy,
• ...
• Josef Prchal,
• Reha M. Toydemir,
• Bo Hong