Dunja Niedrist

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 467 citations · Full text

Rubinstein-taybi Syndrome, Mendelian Disorder, Genetic Disorder +10

Survival with trisomy 18—data from Switzerland

Dunja Niedrist, Mariluce Riegel, Josef Achermann et al. · American Journal of Medical Genetics Part A · 2006 · 117 citations

Fertility, Genetics, Reproductive Health +17

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Paranchai Boonsawat, Pascal Joset, Katharina Steindl et al. · Genetics in Medicine · 2019 · 82 citations · Full text

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies

Bernhard Steiner, Rahim Masood, Kaspar Rufibach et al. · European Journal of Human Genetics · 2014 · 62 citations · Full text

Higher Risk, Developmental Biology, Fertility +13

High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power

Beatrice Oneda, Rosa Baldinger, Regina Reissmann et al. · Prenatal Diagnosis · 2014 · 52 citations