Michael L. Raff

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Frank J. Kaiser, Paola Brega, Michael L. Raff et al. · European Journal of Human Genetics · 2003 · 58 citations · Full text

Transcriptional Regulation, Molecular Physiology, Medicine +11

Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia

Robyn C. Reed, Linda Beischel, Jonathan Schoof et al. · Pediatric and Developmental Pathology · 2008 · 54 citations

Cytogenetics, Genetics, Human Polymorphism +16

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Karen D. Tsuchiya, Kent E. Opheim, Mark Hannibal et al. · Molecular Cytogenetics · 2008 · 37 citations · Full text

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

Swati Khare, Jerelyn Nick, Yalan Zhang et al. · PLoS ONE · 2017 · 32 citations · Full text

Neurological Disorder, Genetics, Human Kcnc3r423h +20

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements

Vivienne Souter, Ian A. Glass, Daniel Chapman et al. · Ultrasound in Obstetrics and Gynecology · 2003 · 29 citations · Full text