Brian D. Kuchinka
University of British Columbia(CA)Children's & Women's Health Centre of British Columbia(CA)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Chromosomal and Genetic Variations, Folate and B Vitamins Research
Most-Cited Works
- → Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15(2000)105 cited
- → Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism(2002)92 cited
- → Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis(1993)83 cited
- → Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?(2010)72 cited
- → The utilization of interphase cytogenetic analysis for the detection of mosaicism(1994)50 cited
- → Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line(2000)46 cited
- → Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy(2001)34 cited
- Interphase cytogenetic analysis of single cell suspensions prepared from previously formalin-fixed and paraffin-embedded tissues.(1995)
- → Sanger sequencing solved a cryptic case of severe alpha1-antitrypsin deficiency(2012)7 cited
- Molecular approaches to identification of intraspecific differences within two Bursaphelenchus species(1992)