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The EMBO Journal|July 27, 2014
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disordersSandra Blanco, Sabine Dietmann, Joana V Flores, et al.
Human Molecular Genetics|September 20, 2015
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndromeUirá S Melo, Lucia I Macedo-Souza, Thalita Figueiredo, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
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