| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
22: A case of partial trisomy 13 not detected on prenatal cfDNA screen
|
Bryant, Laura
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|
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3 |
S1 |
p.
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artikel
|
| 2 |
32: A case with germ cell tumor and cutaneous mastocytosis harboring same genomic abnormalities indicating that they arose from a neoplastic progenitor
|
Qi, Zhongxia
|
|
|
3 |
S1 |
p.
|
artikel
|
| 3 |
14: A curated research catalogue of structural variation from 809 postnatal cases detected by optical genome mapping
|
Chun Pang, Andy Wing
|
|
|
3 |
S1 |
p.
|
artikel
|
| 4 |
33: A diagnostic challenge: Can high hyperdiploidy B-lymphoblastic leukemia/lymphoma with double trisomy possibly obscure BCR::ABL1-like fusions
|
Zhao, Kun
|
|
|
3 |
S1 |
p.
|
artikel
|
| 5 |
38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States
|
Williams, Alexis
|
|
|
3 |
S1 |
p.
|
artikel
|
| 6 |
34: A new and efficient analysis and reporting workflow for hematological malignancies
|
Clifford, Benjamin
|
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|
3 |
S1 |
p.
|
artikel
|
| 7 |
26: A novel, atypical ETV6::RUNX1 fusion formed by exonic insertion of ETV6 into RUNX1 in a pediatric patient with precursor B-cell acute lymphoblastic leukemia
|
Zhang, Lei
|
|
|
3 |
S1 |
p.
|
artikel
|
| 8 |
35: A rare mechanism of Russell-Silver syndrome acquired from a maternally derived unbalanced translocation, t(X;11)
|
Smith, Rebecca B.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 9 |
2: Artificial intelligence-assisted conventional chromosome analysis to explore clonal dynamics in chronic lymphocytic leukemia
|
Avenarius, Matthew
|
|
|
3 |
S1 |
p.
|
artikel
|
| 10 |
15: A search for genetic determinants in neural tube defects using optical genome mapping
|
Sahajpal, Nikhil Shri
|
|
|
3 |
S1 |
p.
|
artikel
|
| 11 |
21: Atypical MCC and microarray results from multiple gestation pregnancies
|
Dalivandan, Saeideh Torabi
|
|
|
3 |
S1 |
p.
|
artikel
|
| 12 |
24: Challenges in detection of higher copy sex chromosome aneuploidy by cfDNA screening: the critical role of diagnostic testing
|
Choate, Lauren A.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 13 |
4: Chromosome mosaicism: A new look at an old (and perplexing) problem
|
Schwartz, Stuart
|
|
|
3 |
S1 |
p.
|
artikel
|
| 14 |
8: Chromothripsis is a recurrent genomic event associated with high-risk and high grade meningiomas
|
Nguyen, Ha
|
|
|
3 |
S1 |
p.
|
artikel
|
| 15 |
13: Clinical utility of optical genome mapping as an additional tool to standard cytogenetic workup in hematological malignancies
|
Toruner, Gokce
|
|
|
3 |
S1 |
p.
|
artikel
|
| 16 |
3: Comparing and contrasting karyotype scoring guidelines for evaluating complex karyotype in chronic lymphocytic leukemia
|
Miller, Cecelia R.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 17 |
17: Creation of a successful internal cytogenetics training program for the development of future technologists
|
Manning, Michael Ryan
|
|
|
3 |
S1 |
p.
|
artikel
|
| 18 |
16: Cross-comparison of optical genome mapping and chromosomal microarray data using VIA software
|
Yu, James
|
|
|
3 |
S1 |
p.
|
artikel
|
| 19 |
31: Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution
|
Murry, Jaclyn
|
|
|
3 |
S1 |
p.
|
artikel
|
| 20 |
19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation
|
Herriges, John
|
|
|
3 |
S1 |
p.
|
artikel
|
| 21 |
Editorial Board
|
|
|
|
3 |
S1 |
p.
|
artikel
|
| 22 |
12: Enhanced detection of primary oncogenic drivers in pediatric T-lymphoblastic leukemia (T-ALL) by optical genome mapping (OGM)
|
Raca, Gordana
|
|
|
3 |
S1 |
p.
|
artikel
|
| 23 |
6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis?
|
Fee, Timothy
|
|
|
3 |
S1 |
p.
|
artikel
|
| 24 |
37: Expanding the clinical and molecular spectrum of SMARCD1-related neurodevelopmental disorder: A deletion and mosaic missense variant
|
Bilancia, Colleen G.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 25 |
25: Five new cases of dual IGH translocations in patients with multiple myeloma
|
Fulmer, Makenzie L.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 26 |
30: FUS rearrangements/fusions by FISH and RNA-based gene fusion assays in sarcomas
|
Ament, Candice
|
|
|
3 |
S1 |
p.
|
artikel
|
| 27 |
28: Intragenic KMT2A aberrations can be detected by optical genome mapping but require further biologic and clinical characterization
|
Tang, Zhenya
|
|
|
3 |
S1 |
p.
|
artikel
|
| 28 |
39: Isotachophoresis (ITP) for high-throughput isolation of UHMW gDNA suitable for optical genome mapping (OGM)
|
Rose, Klint A.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 29 |
Masthead
|
|
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|
3 |
S1 |
p.
|
artikel
|
| 30 |
40: Mixing ploidies and assays: A case report of perinatal diagnosis and outcome for diploid/triploid mixoploidy
|
Ruggeri, Jeanine M.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 31 |
1: Multicenter evaluation of a new AI-based karyotyping software on bone marrow specimens
|
Burnside, Rachel D.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 32 |
9: Near haploidization is recurrent in central nervous system tumors, not exclusive to giant cell glioblastomas
|
Otsubo, Aiko
|
|
|
3 |
S1 |
p.
|
artikel
|
| 33 |
36: OMKar: Optical map based automated karyotyping of genomes to identify constitutional abnormalities
|
Dehkordi, Siavash Raeisi
|
|
|
3 |
S1 |
p.
|
artikel
|
| 34 |
23: Positive predictive value of low fetal fraction and atypical prenatal cfDNA screening results
|
Ding, Qiliang
|
|
|
3 |
S1 |
p.
|
artikel
|
| 35 |
Prelims
|
|
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3 |
S1 |
p.
|
artikel
|
| 36 |
18: Re-evaluation of genomic CNVs overlapping new dosage sensitive genes at an academic reference laboratory in accordance with ClinGen dosage sensitivity curation
|
Quigley, Denise I.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 37 |
5: Ring chromosomes at the Greenwood Genetic Center- a case series spanning 27 years at a single institution
|
Cooley Coleman, Jessica A.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 38 |
27: Siblings with reciprocal duplication/ deletions of 11p and 20p due to segregation of complex chromosomal rearrangements
|
Beaudry, Sarah
|
|
|
3 |
S1 |
p.
|
artikel
|
| 39 |
20: Think before you toss: Analysis of DNA and RNA from methanol-acetic acid fixed cell pellets
|
Morrison, Monique A.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 40 |
7: Three cases illustrating genomic microarray testing in bone marrow failure syndromes
|
Pizzo, Lucilla
|
|
|
3 |
S1 |
p.
|
artikel
|
| 41 |
11: To remap or not to remap: the relevance of the genome references to resolve rare inversions
|
Carvalho, Claudia M.B.
|
|
|
3 |
S1 |
p.
|
artikel
|
| 42 |
29: Unraveling a complex genetic puzzle: Co-occurrence of Turner and Kabuki features, developmental delay, and autism spectrum disorder
|
Hsiao, Meng-Chang
|
|
|
3 |
S1 |
p.
|
artikel
|
| 43 |
10: Untangling complex 15q rearrangements through long-read whole-genome sequencing
|
Paschal, Cate R.
|
|
|
3 |
S1 |
p.
|
artikel
|
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