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American Journal of Human Genetics|March 21, 2003
Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree seriesEiji Hattori, Chunyu Liu, Judith A Badner, et al.European Journal of Human Genetics : EJHG|September 19, 2013
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformationAlex R Paciorkowski, Judy Weisenberg, Joshua B Kelley, et al.Brain : a Journal of Neurology|May 15, 2009
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous femalesEric Marsh, Carl Fulp, Ernest Gomez, et al.Journal of Medical Genetics|June 24, 2009
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autismRavinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, et al.European Journal of Pediatrics|October 20, 2009
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7qPiero Pavone, Martino Ruggieri, Ilaria Lombardo, et al.American Journal of Medical Genetics. Part A|May 25, 2013
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruptionAlex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, et al.Journal of Child Neurology|September 23, 2015
The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription ProfilesMary Kusenda, Vladimir Vacic, Dheeraj Malhotra, et al.Human Molecular Genetics|December 25, 2007
Recurrent 16p11.2 microdeletions in autismRavinesh A Kumar, Samer KaraMohamed, Jyotsna Sudi, et al.American Journal of Human Genetics|April 8, 2014
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsyThomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, et al.Nature Genetics|January 24, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm, Denise Horn, Isabella Wimplinger, et al.Pageof 3