Rolph Pfundt

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 278 citations · Full text

Down Syndrome, Influences Recurrence Risk, Developmental Biology +8

Genomic and Expression Profiling of Human Spermatocytic Seminomas: Primary Spermatocyte as Tumorigenic Precursor and <i>DMRT1</i> as Candidate Chromosome 9 Gene

Leendert H. J. Looijenga, Remko Hersmus, Ad Gillis et al. · Cancer Research · 2006 · 226 citations

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand et al. · Journal of Medical Genetics · 2010 · 164 citations

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper et al. · Journal of Medical Genetics · 2010 · 144 citations · Full text

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

Jayne Y. Hehir‐Kwa, Benjamín Rodríguez‐Santiago, Lisenka E.L.M. Vissers et al. · Journal of Medical Genetics · 2011 · 104 citations