Andreas Rump

The DNA sequence of human chromosome 21

Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text

Chromatin, Developmental Biology, Cytogenetics +14

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Ercole Rao, Maki Fukami, Andreas Rump et al. · Nature Genetics · 1997 · 943 citations

Developmental Anomaly, Pseudoautosomal Deletions, Developmental Biology +9

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Philomena Mburu, Mirna Mustapha, Anabel Varela et al. · Nature Genetics · 2003 · 338 citations

Knockout Mouse, Pdz Domain Molecule, Cause Deafness +9

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10