Thomas Liehr

Research interests

Publications

• Recommendations for whole genome sequencing in diagnostics for rare diseases

  European Journal of Human Genetics · 2022 · 10.1038/s41431-022-01113-x

• PDE3A mutations cause autosomal dominant hypertension with brachydactyly

  Nature Genetics · 2015 · 10.1038/ng.3302

• Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish

  Cell · 2015 · https://doi.org/10.1016/j.cell.2015.10.071

• X chromosome aneuploidy in the Alzheimer’s disease brain

  Molecular Cytogenetics · 2014 · 10.1186/1755-8166-7-20

• Microdeletion and Microduplication Syndromes

  Journal of Histochemistry & Cytochemistry · 2012 · 10.1369/0022155412440001

• Complex chromosomal rearrangements: origin and meiotic behavior

  Human Reproduction Update · 2011 · 10.1093/humupd/dmr010

• Cytogenetic contribution to uniparental disomy (UPD)

  Molecular Cytogenetics · 2010 · 10.1186/1755-8166-3-8

• Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

  The American Journal of Human Genetics · 2010 · 10.1016/j.ajhg.2010.04.002

• Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

  Human Molecular Genetics · 2009 · 10.1093/hmg/ddp207

• Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

  Neurobiology of Disease · 2009 · 10.1016/j.nbd.2009.01.003

• Hepatocyte differentiation of mesenchymal stem cells from human adipose tissue in vitro promotes hepatic integration in vivo

  Gut · 2008 · https://doi.org/10.1136/gut.2008.154880

• Fluorescence In Situ Hybridization (FISH) — Application Guide

  · 2008 · 10.1007/978-3-540-70581-9

• Aneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain

  PLoS ONE · 2007 · 10.1371/journal.pone.0000558

• Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics

  International Journal of Molecular Medicine · 2007 · 10.3892/ijmm.19.5.719

• Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

  American Journal of Medical Genetics Part A · 2006 · 10.1002/ajmg.a.31414

• Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure

  Human Reproduction · 2005 · 10.1093/humrep/deh654

• Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

  Cytogenetic and Genome Research · 2005 · 10.1159/000087510

• Human Male Recombination Maps for Individual Chromosomes

  The American Journal of Human Genetics · 2004 · 10.1086/382138

• Small supernumerary marker chromosomes (sSMC) in humans

  Cytogenetic and Genome Research · 2004 · https://doi.org/10.1159/000079572

• Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

  Human Genetics · 2003 · 10.1007/s00439-003-1016-3

• Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

  European Journal of Human Genetics · 2002 · 10.1038/sj.ejhg.5200889

• Microdissection based high resolution multicolor banding for all 24 human chromosomes

  International Journal of Molecular Medicine · 2002 · 10.3892/ijmm.9.4.335

• Genome‐wide analysis of sixteen chordomas by comparative genomic hybridization and cytogenetics of the first human chordoma cell line, U‐CH1

  Genes Chromosomes and Cancer · 2001 · 10.1002/gcc.1184

• A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH)

  Human Genetics · 2001 · 10.1007/s004390100459

• Localization of the Human β-Catenin Gene (CTNNB1) to 3p21: A Region Implicated in Tumor Development

  Genomics · 1994 · 10.1006/geno.1994.1493

Current projects

No projects listed.