192 related articles for article (PubMed ID: 37239376)
1. The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.
Ke X; Yang H; Pan H; Jiang Y; Li M; Zhang H; Hao N; Zhu H
Genes (Basel); 2023 Apr; 14(5):. PubMed ID: 37239376
[TBL] [Abstract][Full Text] [Related]
2. 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.
Zhang Q; Wang Y; Zhou J; Zhou R; Liu A; Meng L; Ji X; Hu P; Xu Z
Mol Genet Genomic Med; 2023 Oct; 11(10):e2248. PubMed ID: 37475652
[TBL] [Abstract][Full Text] [Related]
3. Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T; Neveling K; Pebrel-Richard C; Benoist M; van der Zande G; Kater-Baats E; Baatout I; van Beek R; Yammine T; Oorsprong M; Hsoumi F; Olde-Weghuis D; Majdali W; Vermeulen S; Pauper M; Lebbar A; Stevens-Kroef M; Sanlaville D; Dupont JM; Smeets D; Hoischen A; Schluth-Bolard C; El Khattabi L
Am J Hum Genet; 2021 Aug; 108(8):1409-1422. PubMed ID: 34237280
[TBL] [Abstract][Full Text] [Related]
4. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Neveling K; Mantere T; Vermeulen S; Oorsprong M; van Beek R; Kater-Baats E; Pauper M; van der Zande G; Smeets D; Weghuis DO; Stevens-Kroef MJPL; Hoischen A
Am J Hum Genet; 2021 Aug; 108(8):1423-1435. PubMed ID: 34237281
[TBL] [Abstract][Full Text] [Related]
5. Optical Genome Mapping Reveals Novel Structural Variants in Lymphoblastic Lymphoma.
Xu H; Gao H; Wang C; Cheng X; Li Z; Lei C; Huang X; Li W; Yue Z; Tian S; Zhao X; Xue T; Xing T; Li J; Wang Y; Duan Y; Wang T; Zhang R
J Pediatr Hematol Oncol; 2024 Jan; 46(1):e71-e82. PubMed ID: 38018972
[TBL] [Abstract][Full Text] [Related]
6. Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Rao H; Zhang H; Zou Y; Ma P; Huang T; Yuan H; Zhou J; Lu W; Li Q; Huang S; Liu Y; Yang B
Front Genet; 2023; 14():1248755. PubMed ID: 37732322
[No Abstract] [Full Text] [Related]
7. Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.
Shim Y; Koo YK; Shin S; Lee ST; Lee KA; Choi JR
Ann Lab Med; 2024 Jul; 44(4):324-334. PubMed ID: 38433573
[TBL] [Abstract][Full Text] [Related]
8. Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.
Xie M; Xue J; Zhang Y; Zhou Y; Yu Q; Li H; Li Q
Front Genet; 2023; 14():1248544. PubMed ID: 37745854
[No Abstract] [Full Text] [Related]
9. Detection of complex chromosome rearrangements using optical genome mapping.
Qu J; Li S; Yu D
Gene; 2023 Oct; 884():147688. PubMed ID: 37543218
[TBL] [Abstract][Full Text] [Related]
10. Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma.
Barford RG; Whittle E; Weir L; Fong FC; Goodman A; Hartley HE; Allinson LM; Tweddle DA
Cancers (Basel); 2023 Oct; 15(21):. PubMed ID: 37958407
[TBL] [Abstract][Full Text] [Related]
11. Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.
She Q; Tang E; Peng C; Wang L; Wang D; Tan W
J Clin Lab Anal; 2021 Nov; 35(11):e23971. PubMed ID: 34569664
[TBL] [Abstract][Full Text] [Related]
12. Analytic Validation of Optical Genome Mapping in Hematological Malignancies.
Pang AWC; Kosco K; Sahajpal NS; Sridhar A; Hauenstein J; Clifford B; Estabrook J; Chitsazan AD; Sahoo T; Iqbal A; Kolhe R; Raca G; Hastie AR; Chaubey A
Biomedicines; 2023 Dec; 11(12):. PubMed ID: 38137484
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.
Dai P; Zhu X; Pei Y; Chen P; Li J; Gao Z; Liang Y; Kong X
Mol Genet Genomic Med; 2022 Jun; 10(6):e1936. PubMed ID: 35384386
[TBL] [Abstract][Full Text] [Related]
14. Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.
Wang Y; Bi S; Shi X; Dai L
Appl Clin Genet; 2024; 17():63-69. PubMed ID: 38828444
[TBL] [Abstract][Full Text] [Related]
15. Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.
Dremsek P; Schwarz T; Weil B; Malashka A; Laccone F; Neesen J
Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946907
[TBL] [Abstract][Full Text] [Related]
16. [Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations].
Hao N; Zhou J; Li MM; Luo WW; Zhang HZ; Qi QW; Jiang YL; Zhou XY; Yang K; Chen H; Pan HJ; Zhu JT; Liu J
Zhonghua Yu Fang Yi Xue Za Zhi; 2022 May; 56(5):632-639. PubMed ID: 35644979
[TBL] [Abstract][Full Text] [Related]
17. Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.
Zhang S; Xu Y; Lu D; Fu D; Zhao Y
PeerJ; 2022; 10():e14400. PubMed ID: 36523456
[TBL] [Abstract][Full Text] [Related]
18. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Schrauwen I; Rajendran Y; Acharya A; Öhman S; Arvio M; Paetau R; Siren A; Avela K; Granvik J; Leal SM; Määttä T; Kokkonen H; Järvelä I
Sci Rep; 2024 May; 14(1):11239. PubMed ID: 38755281
[TBL] [Abstract][Full Text] [Related]
19. Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.
Xu Y; Zhang Q; Wang Y; Zhou R; Ji X; Meng L; Luo C; Liu A; Jiao J; Chen H; Zeng H; Hu P; Xu Z
Diagnostics (Basel); 2024 Jan; 14(2):. PubMed ID: 38248042
[TBL] [Abstract][Full Text] [Related]
20. [Clinical and genetic characteristic in patients with disorders of sex development caused by Y chromosome copy number variant].
Xia JK; Tian FY; Hou YQ; Zhao YJ; Kong XD
Zhonghua Er Ke Za Zhi; 2023 May; 61(5):459-463. PubMed ID: 37096267
[No Abstract] [Full Text] [Related]
[Next] [New Search]