selected publications
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academic article
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A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.
Neuroendocrinology.
107.
2018
Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1+/− mice.
Scientific Reports.
8.
2018
Determination of the renal concentration capacity following intravenous administration of dDAVP in healthy humans.
Scandinavian Journal of Clinical and Laboratory Investigation.
78.
2018
Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium.
Biological Psychiatry.
84.
2018
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Nature Genetics.
50.
2018
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
European Journal of Pediatrics.
177.
2018
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
Neuroendocrinology.
106.
2018
The importance of data structure in statistical analysis of dendritic spine morphology.
Journal of Neuroscience Methods.
296.
2018
Voluntary Physical Exercise Induces Expression and Epigenetic Remodeling of VegfA in the Rat Hippocampus.
Molecular Neurobiology.
55.
2018
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.
Acta Paediatrica.
106.
2017
DNA Methylation Analysis of BRD1 Promoter Regions and the Schizophrenia rs138880 Risk Allele.
PLoS ONE.
12.
2017
Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.
Stem Cell Research.
19.
2017
Mice heterozygous for an inactivated allele of the schizophrenia associated Brd1 gene display selective cognitive deficits with translational relevance to schizophrenia.
Neurobiology of Learning and Memory.
141.
2017
Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus.
Case Reports in Nephrology and Dialysis.
7.
2017
The Effects of Voluntary Physical Exercise-Activated Neurotrophic Signaling in Rat Hippocampus on mRNA Levels of Downstream Signaling Molecules.
Journal of Molecular Neuroscience.
62.
2017
The Schizophrenia-Associated BRD1 Gene Regulates Behavior, Neurotransmission, and Expression of Schizophrenia Risk Enriched Gene Sets in Mice.
Biological Psychiatry.
82.
2017
Identification of the BRD1 interaction network and its impact on mental disorder risk.
Genome Medicine.
8.
2016
Quantitative assessment of methyl‐esterification and other side reactions in a standard propionylation protocol for detection of histone modifications.
Proteomics.
16.
2016
Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.
Bipolar Disorders.
17.
2015
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.
BMC Genomics.
16.
2015
Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
BMC Nephrology.
16.
2015
The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function.
Free Radical Research.
48.
2014
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chapter
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Chapter 5 Diabetes Insipidus.
Elsevier.
2016
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dataset
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DNA Methylation Analysis of BRD1 Promoter Regions and the Schizophrenia rs138880 Risk Allele.
public-library-of-science.
2017
Additional file 12: of Identification of the BRD1 interaction network and its impact on mental disorder risk.
springer-nature.
2016
Additional file 14: of Identification of the BRD1 interaction network and its impact on mental disorder risk.
springer-nature.
2016
Additional file 16: of Identification of the BRD1 interaction network and its impact on mental disorder risk.
springer-nature.
2016
Additional file 9: of Identification of the BRD1 interaction network and its impact on mental disorder risk.
springer-nature.
2016
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hide from search
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A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus.
Clinical Genetics.
2013
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.
Pituitary.
2013
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.
Neurobiology of Disease.
2013
Leptin regulation of Hsp60 impacts hypothalamic insulin signaling.
Journal of Clinical Investigation.
2013
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preprint