Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice

Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice

Saved in:

Bibliographic Details
Main Authors:	Chunxiang Zhou, Honglei Duan, Linlin He, Huijun Li, Yiyan Shi, Jie Li, Yang Pan, Jue Li
Format:	Article
Language:	English
Published:	Wolters Kluwer Health 2024-04-01
Series:	Maternal-Fetal Medicine
Online Access:	http://journals.lww.com/10.1097/FM9.0000000000000219
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements
by: Xiaohang Hu, et al.
Published: (2025-05-01)

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
by: Yunting Ma, et al.
Published: (2024-09-01)

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
by: Qinxin Zhang, et al.
Published: (2023-08-01)

The genomic structure of complex chromosomal rearrangement at the Fm locus in black-bone Silkie chicken
by: Ashutosh Sharma, et al.
Published: (2025-04-01)

Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia
by: Meng-Ju Melody Tsai, et al.
Published: (2025-04-01)

Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping
by: Xiaoxi Zhu, et al.
Published: (2025-08-01)

Exceptional Complex Chromosomal Rearrangements in Three Generations
by: Hannie Kartapradja, et al.
Published: (2015-01-01)

Reply to: The genomic structure of complex chromosomal rearrangement at the Fm locus in black-bone Silkie chicken
by: Qiang-sen Zhao, et al.
Published: (2025-04-01)

How repeats rearrange chromosomes: The molecular basis of chromosomal inversions in deer mice
by: Landen Gozashti, et al.
Published: (2025-05-01)

Genetic Evaluation of Early Pregnancy Loss by Chromosomal Microarray Analysis: A Retrospective Analysis
by: Hu Ding, et al.
Published: (2025-07-01)

Chromosomal rearrangements drive diversity in arboreal rodents of the genus Oecomys
by: Vergiana dos Santos Paixão, et al.
Published: (2025-02-01)

P782: A complex structural rearrangement resulting in recurrent SCN1A deletion identified by optical genome mapping
by: Kameryn Butler, et al.
Published: (2025-01-01)

16: Cross-comparison of optical genome mapping and chromosomal microarray data using VIA software
by: James Yu, et al.
Published: (2025-01-01)

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype
by: Shengfang Qin, et al.
Published: (2025-05-01)

Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements
by: А. N. Volkov, et al.
Published: (2022-03-01)

P395: Chromosomal rearrangements resulting in Beckwith-Wiedemann syndrome and beyond
by: Riley Carroll, et al.
Published: (2025-01-01)

Chromosome fragile sites in Arabidopsis harbor matrix attachment regions that may be associated with ancestral chromosome rearrangement events.
by: Joelle S dela Paz, et al.
Published: (2012-01-01)

Dynamics of genome rearrangement in bacterial populations.
by: Aaron E Darling, et al.
Published: (2008-07-01)

Reconstructing rearrangement phylogenies of natural genomes
by: Leonard Bohnenkämper, et al.
Published: (2025-06-01)

Rearrangement of 11q23 Chromosome Region in Acute Myeloid Leukemias in Children
by: EV Fleishman, et al.
Published: (2016-10-01)

Atypical down syndrome features with an atypical chromosomal rearrangement: a case report
by: Hiba Abu Khalil, et al.
Published: (2024-02-01)

A linkage map of Aegilops biuncialis reveals significant genomic rearrangements compared to bread wheat
by: Adam Lampar, et al.
Published: (2025-03-01)

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
by: Birsen Karaman, et al.
Published: (2009-12-01)

Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation
by: María del Mar del Águila, et al.
Published: (2025-05-01)

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies
by: He Fang, et al.
Published: (2025-01-01)

Genetic Determination of a Cryptic Species in the Littoraria Genus With Whole‐Genome Molecular Resolution
by: Jia‐Wei Xu, et al.
Published: (2024-12-01)

Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report
by: Divyesh Upadhyay, B.S., et al.
Published: (2024-12-01)

Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies
by: Ercan Mihçi, et al.
Published: (2009-10-01)

Spt2p defines a new transcription-dependent gross chromosomal rearrangement pathway.
by: Nilabja Sikdar, et al.
Published: (2008-12-01)

The role of chromosomal rearrangements, polyploidy, and genome size variation in the diversity and ecological distribution of Asparagus L. species: a landscape cytogenetics meta-analysis approach
by: Parisa Fouroutan, et al.
Published: (2024-11-01)

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.
by: Qiong Pan, et al.
Published: (2016-01-01)

Identification and removal of a cryptic impurity in pomalidomide-PEG based PROTAC
by: Bingnan Wang, et al.
Published: (2025-02-01)

Chromosome-Level Genome and Variation Map of Eri Silkworm <i>Samia cynthia ricini</i>
by: Kunpeng Lu, et al.
Published: (2025-06-01)

Chromosome-level genome assembly from a single green slender planthopper Saccharosydne procerus
by: Xin-Yang Liu, et al.
Published: (2025-07-01)

Mapping chromosome neighborhoods
by: Jeffrey Perkel
Published: (2015-06-01)

Still waters run deep in large-scale genome rearrangements of morphologically conservative Polyplacophora
by: Julia D Sigwart, et al.
Published: (2025-04-01)

Chromosome-level genome assembly of Qihe gibel carp
by: Kaiqi Lian, et al.
Published: (2025-07-01)

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
by: Iftekhar A. Showpnil, et al.
Published: (2024-12-01)

27: Siblings with reciprocal duplication/ deletions of 11p and 20p due to segregation of complex chromosomal rearrangements
by: Sarah Beaudry, et al.
Published: (2025-01-01)

Enhancing recombinant protein production through Cre-loxP mediated chromosomal rearrangement evolution in Kluyveromyces marxianus
by: Haiyan Ren, et al.
Published: (2025-04-01)