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Metabolic Brain Disease|September 18, 2014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delaySalma Ben-Salem, Joseph G Gleeson, Aisha M Al-Shamsi, et al.Science Translational Medicine|January 1, 2025
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migrationIsaac Tang, Ashna Nisal, Alex Reed, et al.Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.European Journal of Medical Genetics|October 26, 2010
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosumAlice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, et al.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.Nature|May 5, 2006
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkinJeehye Park, Sung Bae Lee, Sungkyu Lee, 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.Pageof 31