Barbara Delle Chiaie

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

Normal Individuals, Psychiatry, Syndromic Autism +11

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 · 215 citations

Developmental Biology, Genetic Disorder, Genetics +7

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 178 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +15

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter Krawitz, Yoshiko Murakami, Jochen Hecht et al. · The American Journal of Human Genetics · 2012 · 143 citations · Full text

Cause Hyperphosphatasia, Developmental Biology, Genetic Disorder +7

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster et al. · European Journal of Medical Genetics · 2009 · 138 citations

Medicine, Sample Experience, Pathology +7