M.H. Breuning

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Dorien J.M. Peters, Lia Spruit, Jasper J. Saris et al. · Nature Genetics · 1993 · 272 citations

Life Sciences, Genetics, Molecular Genetics +12

Cerebral microbleeds in CADASIL

Saskia A.J. Lesnik Oberstein, Rivka van den Boom, Mark A. van Buchem et al. · Neurology · 2001 · 221 citations

Medicine, Neurology, Radiology +17

Duplications in theDMD gene

Stefan J. White, Annemieke Aartsma‐Rus, Kevin M. Flanigan et al. · Human Mutation · 2006 · 159 citations

Life Sciences, Genetics, Molecular Genetics +17