Nathalie Van der Aa

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

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 370 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 218 citations

Life Sciences, Genetics, Molecular Genetics +14