Application of Optical Genome Mapping in Complex Structural Chromosomal Rearrangements
Characteristics and mechanisms of X chromosome translocation
Chromosomal Microarray Analysis for Prenatal Diagnosis of Uniparental Disomy: A Retrospective Study
Applications of non-invasive prenatal testing in 91280 spontaneous pregnancies and 3477 pregnant women undergoing in vitro Fertilization
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports
Preimplantation Genetic Testing for Aicardi–Goutières Syndrome Induced by Novel Compound Heterozygous Mutations of TREX1: an unaffected Live Birth
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
A treatment-refractory and aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report
Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.
Frequent copy number variants in a cohort of Mexican-Mestizo individuals