A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

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

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

George H. Perry, Amir Ben‐Dor, Anya Tsalenko et al. · The American Journal of Human Genetics · 2008 · 342 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Statistical methods for efficiency adjusted real‐time PCR quantification

Joshua S. Yuan, Donglin Wang, C. Neal Stewart · Biotechnology Journal · 2007 · 246 citations

Life Sciences, Biostatistics, Molecular Biology +14

Chromosome Preparation From Cultured Cells

Bradley Howe, Ayesha Umrigar, Fern Tsien · Journal of Visualized Experiments · 2014 · 144 citations · Full text

Life Sciences, Cell Biology, Genetics +17

The transcriptional regulator<i>ADNP</i>links the BAF (SWI/SNF) complexes with autism

Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2014 · 83 citations · Full text

Medicine, Genetics, Molecular Genetics +17