DOI,IST REx ID,Research Group,Title of publication
10.15252/embj.2019103358,7586,GaNo,Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
10.1016/j.celrep.2020.107647,7877,GaNo,MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome
10.1016/j.tins.2020.05.004,7957,GaNo,Neurodevelopmental disorders: From genetics to functional pathways
10.1111/cge.13674,7149,GaNo,Chromatinopathies: A focus on Cornelia de Lange syndrome
10.3390/ijms21031042,7488,GaNo,Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes
10.15479/AT:ISTA:8620,8620,GaNo,Illuminating the role of Cul3 in autism spectrum disorder pathogenesis
10.1101/2020.01.10.902064 ,7800,"JoDa,GaNo,LifeSc",Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
10.1016/j.gde.2020.06.004,8131,GaNo,Molecular mechanisms for targeted ASD treatments
10.15479/AT:ISTA:6074,6074,GaNo,"Supplementary data for the research paper ""Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition"""
10.1021/acs.molpharmaceut.8b01217,6088,GaNo,Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib
10.1038/s41431-018-0231-2,105,GaNo,CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
10.1113/JP277681,6470,GaNo,Improved spike inference accuracy by estimating the peak amplitude of unitary [Ca2+] transients in weakly GCaMP6f-expressing hippocampal pyramidal cells
10.1016/j.brainres.2019.146458,6896,GaNo,Modeling cell-cell interactions in the brain using cerebral organoids
10.1016/j.euroneuro.2019.09.039,7414,GaNo,S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly
10.1016/j.euroneuro.2019.09.040,7415,"GaNo,LifeSc",S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism
10.1126/scitranslmed.aar7514,456,GaNo,Zika-associated microcephaly: Reduce the stress and race for the treatment
10.1016/j.conb.2017.12.005,546,GaNo,Neural stem cells in neuropsychiatric disorders
10.1038/s12276-018-0129-7,5888,GaNo,Genomics in neurodevelopmental disorders: an avenue to personalized medicine
10.1136/jmedgenet-2017-104627,691,GaNo,A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
10.1038/s41593-018-0266-2,3,"GaNo,EdHa",Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition