Highly Influential Citations14
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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with… Continue Reading
Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system. Recently, truncation of the CNTNAP2 gene coding for… Continue Reading
Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and… Continue Reading
Niels Tommerup , Malene B. Rasmussen , Mana M. Mehrjouy , Iben Bache , Allan Lind-Thomsen , Ana Carolina dos Santos Fonseca , Christina Halgren , Mads Bak , Peter Jacky , The International Breakpoint… Continue Reading
of >4000 reported duplications in an effort to refine our reporting criteria for duplications. Our results suggest limited diagnostic utility for reporting duplications less than 1Mb that do not… Continue Reading