Han G. Brunner

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 174 citations · Full text

Medicine, Neurology, Neuropathology +2

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange et al. · The American Journal of Human Genetics · 2012 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7