Gaia Novarino

Affiliations: 
IST Austria, Klosterneuburg, Niederösterreich, Austria 
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"Gaia Novarino"
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Publications

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Marin-Valencia I, Novarino G, Johansen A, et al. (2017) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics
Tărlungeanu DC, Deliu E, Dotter CP, et al. (2016) Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 167: 1481-1494.e18
Kuechler A, Zink AM, Wieland T, et al. (2015) Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics : Ejhg. 23: 753-60
Baek ST, Kerjan G, Bielas SL, et al. (2014) Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 82: 1255-62
Novarino G, Fenstermaker AG, Zaki MS, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11
Novarino G, Baek ST, Gleeson JG. (2013) The sacred disease: the puzzling genetics of epileptic disorders. Neuron. 80: 9-11
Novarino G, El-Fishawy P, Kayserili H, et al. (2012) Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). 338: 394-7
Dixon-Salazar TJ, Silhavy JL, Udpa N, et al. (2012) Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78
Novarino G, Akizu N, Gleeson JG. (2011) Modeling human disease in humans: the ciliopathies. Cell. 147: 70-9
Novarino G, Weinert S, Rickheit G, et al. (2010) Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science (New York, N.Y.). 328: 1398-401
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