Bernt Schulze

Trio exome sequencing is highly relevant in prenatal diagnostics

Heinz Gabriel, Dirk Korinth, M Ritthaler et al. · Prenatal Diagnosis · 2021 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Marina Manvelyan, Mariluce Riegel, Mònica Santos et al. · International Journal of Molecular Medicine · 2008 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

Markus Stümm, Michael Entezami, Karsten Haug et al. · Prenatal Diagnosis · 2013 · 42 citations

Life Sciences, Genetics, Molecular Genetics +17

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Franco Laccone, Katharina Schoner, Birgit Krabichler et al. · European Journal of Human Genetics · 2011 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Alice Krebsová, Wolfgang Küster, Gilles G. Lestringant et al. · The American Journal of Human Genetics · 2001 · 41 citations

Life Sciences, Genetics, Molecular Genetics +15