Maarit Peippo

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 312 citations · Full text

Clinical Disorders, Psychiatry, Pitt-hopkins Syndrome +6

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Somatic Variant, Autoimmune Disease, Mendelian Disorder +5

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall, Edwin J. Young, Ariel M. Pani et al. · The American Journal of Human Genetics · 2008 · 123 citations · Full text

Developmental Biology, Magi2 Gene, Medicine +6