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Genome Biology|August 31, 2013
Virmid: accurate detection of somatic mutations with sample impurity inferenceSangwoo Kim, Kyowon Jeong, Kunal Bhutani, et al.Human Molecular Genetics|September 11, 2008
Association of common variants in the Joubert syndrome gene (AHI1) with autismAna I Alvarez Retuerto, Rita M Cantor, Joseph G Gleeson, et al.American Journal of Human Genetics|August 15, 2003
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3Lesley C Keeler, Sarah E Marsh, Esther P Leeflang, et al.Nature|April 16, 2010
Functional genomic screen for modulators of ciliogenesis and cilium lengthJoon Kim, Ji Eun Lee, Susanne Heynen-Genel, et al.American Journal of Medical Genetics. Part A|October 18, 2011
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defectMaha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, et al.Cell|May 8, 2007
Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wristStephanie L Bielas, Finley F Serneo, Magdalena Chechlacz, et al.Journal of Medical Genetics|May 12, 2012
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeFernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, et al.Human Genetics|April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGhayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.American Journal of Medical Genetics. Part A|September 20, 2012
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al.Cell Stem Cell|August 23, 2016
Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters ProliferationHongda Li, Laura Saucedo-Cuevas, Jose A Regla-Nava, et al.Pageof 34