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Author Details

Yutaka Negishi
Gifu Prefectural Tajimi Hospital
2010
39
15
PMIDPaper TitleJournal TitlePublished Year
35002068Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.Clin Pediatr Endocrinol2022
36220858A nationwide survey of Schaaf-Yang syndrome in Japan.J Hum Genet2022
34338282Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.Development2021
33827760SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation.Brain Dev2021
33838621Risks of ACTH therapy for West syndrome following BCG vaccination.Epilepsy Behav2021
34046034Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses.Front Immunol2021
32430160Lacosamide for children with paroxysmal kinesigenic dyskinesia.Brain Dev2020
32804975Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.PLoS One2020
32923457Pinpointing Cell Identity in Time and Space.Front Mol Biosci2020
30573562<i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.J Med Genet2019
31645981A novel <i>CUL4B</i> splice site variant in a young male exhibiting less pronounced features.Hum Genome Var2019
31791363Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.Orphanet J Rare Dis2019
31028281Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.J Hum Genet2019
30937176A novel splicing mutation in <i>SLC9A6</i> in a boy with Christianson syndrome.Hum Genome Var2019
30680869A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.Am J Med Genet A2019
28893434Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.Brain Dev2018
29907875A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.J Hum Genet2018
29449050A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.Brain Dev2018
29752200Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.Brain Dev2018
29066118A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.Brain Dev2018
27787898Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.J Neurochem2017
28086757A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.BMC Med Genet2017
28915117Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.J Pediatr Endocrinol Metab2017
28695677Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.Acta Paediatr2017
28615637Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Sci Rep2017
28848059<i>CTCF</i> deletion syndrome: clinical features and epigenetic delineation.J Med Genet2017
28515470A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.J Hum Genet2017
27075689Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Am J Med Genet A2016
26858187Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.J Pediatr2016
25957166Batf2/Irf1 induces inflammatory responses in classically activated macrophages, lipopolysaccharides, and mycobacterial infection.J Immunol2015
26449455Identification of chromatin marks at TERRA promoter and encoding region.Biochem Biophys Res Commun2015
27081522Truncating mutation in NFIA causes brain malformation and urinary tract defects.Hum Genome Var2015
25929611Anti-M Antibody Induced Prolonged Anemia Following Hemolytic Disease of the Newborn Due to Erythropoietic Suppression in 2 Siblings.J Pediatr Hematol Oncol2015
24262303Hemolytic disease of the fetus and newborn with late-onset anemia due to anti-M: a case report and review of the Japanese literature.Transfus Med Rev2014
24830958Homoplasmy of a mitochondrial 3697G&gt;A mutation causes Leigh syndrome.J Hum Genet2014
24670763An atlas of active enhancers across human cell types and tissues.Nature2014
24338516Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions.Neuropediatrics2014
22710472Perinatal cytomegalovirus-associated bullae in an immunocompetent infant.Arch Dermatol2012
20461531Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms.Eur J Pediatr2010
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Collaborators

The University of Tokyo
Co-authored papers 9
Center for Medical Genetics, Keio University School of Medicine
Co-authored papers 9
RIKEN Center for Integrative Medical Sciences
Co-authored papers 2
Center for Integrative Medical Sciences
Co-authored papers 2
RIKEN Center for Integrative Medical Sciences
Co-authored papers 2
International Institute of Molecular and Cell Biology in Warsaw
Co-authored papers 1
Nagoya City University Graduate School of Medical Sciences
Co-authored papers 1
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 1
International Centre for Genetic Engineering and Biotechnology
Co-authored papers 1
Karolinska Institute
Co-authored papers 1
RIKEN Center for Integrative Medical Sciences
Co-authored papers 1
Genome Institute of Singapore (GIS)
Co-authored papers 1
Center for Genomic Medicine, Rigshospitalet Copenhagen University Hospital
Co-authored papers 1
Hospital of Obstetrics and Gynecology, Fudan University
Co-authored papers 1
Leibniz Institute for Immunotherapy, c/o University Hospital Regensburg
Co-authored papers 1
RIKEN Center for Integrative Medical Sciences
Co-authored papers 1
RIKEN Center for Integrative Medical Sciences
Co-authored papers 1
RIKEN Center for Life Science Technologies
Co-authored papers 1
Mater Research Institute-UQ, Translational Research Institute
Co-authored papers 1
RIKEN Center for Integrative Medical Sciences
Co-authored papers 1
University of Copenhagen
Co-authored papers 1
University of Birmingham
Co-authored papers 1
RIKEN Center for Integrative Medical Sciences
Co-authored papers 1
University of Copenhagen
Co-authored papers 1
Max Planck Institute for Molecular Genetics
Co-authored papers 1
Rigshospitalet, University of Copenhagen
Co-authored papers 1
University of Tennessee Health Science Center
Co-authored papers 1
University Hospital Regensburg
Co-authored papers 1
Co-authored papers 1
University of Copenhagen
Co-authored papers 1