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American Journal of Medical Genetics. Part A|October 18, 2016
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changesFarah R Zahir, Tracy Tucker, Sonia Mayo, et al.American Journal of Human Genetics|April 25, 2017
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and EpilepsyMyriam Srour, Noriaki Shimokawa, Fadi F Hamdan, et al.American Journal of Medical Genetics. Part A|January 21, 2016
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature reviewNancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, et al.Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.Science Advances|May 12, 2023
Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor controlSabrina Schlienger, Patricia T Yam, Nursen Balekoglu, et al.European Journal of Human Genetics : EJHG|October 29, 2015
De novo variants in sporadic cases of childhood onset schizophreniaAmirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 11, 2008
Novel de novo SHANK3 mutation in autistic patientsJulie Gauthier, Dan Spiegelman, Amélie Piton, et al.Proceedings of the National Academy of Sciences of the United States of America|November 17, 2010
M3-muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1Kok Choi Kong, Adrian J Butcher, Phillip McWilliams, et al.Pageof 10