Human Ring Chromosomes A Practical Guide for Clinicians and Families

Peining Li  is Professor in the Department of Genetics at Yale School of Medicine. He received a Bachelor of Science degree in Biology from Nankai University and a PhD in Medical Genetics from University of Alabama at Birmingham. He was Assistant Professor in the Department of Pediatrics at Washington University School of Medicine in St. Louis until he joined Yale in 2005. He has been the director of Yale Clinical Cytogenetics Laboratory which provides karyotyping, fluorescent in situ hybridization (FISH), and chromosome microarray analysis (CMA) to detect chromosomal abnormalities and pathogenic copy number variants (pCNVs) for prenatal, pediatric, and cancer patients from Yale New Haven Hospital and other affiliated hospitals and clinics. His research activities focus on the characterization of genomic structure and gene function from human chromosome abnormalities to identify disease-causing genes or markers of diagnostic value and mechanistic insights. He has published around 100 peer-reviewed articles, book chapters, and review papers in the fields of clinical cytogenetics and molecular genetics. He has been active members of the American Board of Medical Genetics and Genomics, American College of Medical Genetics and Genomics, and American Society of Human Genetics, and the organizer of the International Consortium for Human Ring Chromosomes (ICHRC).

Prof. Thomas Liehr  is working in human genetics since 1991. He is biologist by education and head of the molecular cytogenetic group in Jena, Germany. Research fields include clinical genetics, leukemia cytogenetics and interphase structure of human chromosomes. The results of his research are published in ~15 books, >110 book chapter, >840 referred papers, and ~900 abstracts. His particular expertise includes small supernumerary marker chromosomes (sSMC), chromosomal heteromorphisms and uniparental disomy – see ChromosOmics databases. He is active member of the European Board of Medical Genetics and received multiple prices, two invited professorships and a Dr.h.c.