Yueh‐Chun Li

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Cancer Genomics and Diagnostics

Most-Cited Works

• → Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype(2009)85 cited
• → Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype(2006)78 cited
• → Prenatal diagnosis of low‐level mosaicism for a small XIST‐negative supernumerary ring X chromosome in a nondysmorphic male fetus(2006)71 cited
• → Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q(2006)48 cited
• → A paternally derived inverted duplication of distal 14q with a terminal 14q deletion(2005)31 cited
• → Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter)(2006)12 cited
• → Rare rearrangements: A “jumping satellite” in one family and autosomal location of the SRY gene in an XX male(2009)11 cited
• → A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate(2010)10 cited
• → Novel point mutation within intron 10 of FMR1 gene causing fragile X syndrome(1997)4 cited
• → Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→ter→qter)(2006)2 cited