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Author Details

Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
1989
343
57
PMIDPaper TitleJournal TitlePublished Year
35981075Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.Hum Mol Genet2023
36333996Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.Ann Neurol2023
35981075Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.Hum Mol Genet2023
37761858Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia.Genes (Basel)2023
36967720Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G &gt; A <i>MT-TS2</i> pathogenic variant in a Japanese family.Mol Genet Metab Rep2023
36896836Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.Eur J Cancer Prev2023
37082626Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by <i>MT-TL1</i> mutation: A case report.Heliyon2023
37081677Reply to the Letter "Reversible Vasoconstriction Syndrome Is a Complication of SARS-CoV-2 Infection/Vaccination Rather than That of Leigh Syndrome".Intern Med2023
37327083Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease.Inflamm Bowel Dis2023
37325944A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.Jpn J Clin Oncol2023
36632326Total and reduced/oxidized forms of coenzyme Q<sub>10</sub> in fibroblasts of patients with mitochondrial disease.Mol Genet Metab Rep2023
37005260Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging.Intern Med2023
36941957Focal segmental glomerulosclerosis with a mutation in the <i>mitochondrially encoded NADH dehydrogenase 5</i> gene: A case report.Mol Genet Metab Rep2023
37246162Novel ITPA variants identified by whole genome sequencing and RNA sequencing.J Hum Genet2023
36546711A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.Jpn J Clin Oncol2023
37055166Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing.J Med Genet2023
37054692Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.Digestion2023
36543208Adult-onset Leigh Syndrome with a m.9176T&gt;C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.Intern Med2023
37113581Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.J Anus Rectum Colon2023
36599151The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.J Pediatr Gastroenterol Nutr2023
37509056<i>PKD1</i> Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.Biomolecules2023
37509056<i>PKD1</i> Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.Biomolecules2023
37761858Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia.Genes (Basel)2023
37325944A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.Jpn J Clin Oncol2023
37055166Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing.J Med Genet2023
37054692Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.Digestion2023
37082626Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by <i>MT-TL1</i> mutation: A case report.Heliyon2023
37081677Reply to the Letter "Reversible Vasoconstriction Syndrome Is a Complication of SARS-CoV-2 Infection/Vaccination Rather than That of Leigh Syndrome".Intern Med2023
37246162Novel ITPA variants identified by whole genome sequencing and RNA sequencing.J Hum Genet2023
37113581Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.J Anus Rectum Colon2023
37005260Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging.Intern Med2023
36967720Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G &gt; A <i>MT-TS2</i> pathogenic variant in a Japanese family.Mol Genet Metab Rep2023
37327083Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease.Inflamm Bowel Dis2023
36546711A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.Jpn J Clin Oncol2023
36543208Adult-onset Leigh Syndrome with a m.9176T&gt;C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.Intern Med2023
36599151The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.J Pediatr Gastroenterol Nutr2023
36941957Focal segmental glomerulosclerosis with a mutation in the <i>mitochondrially encoded NADH dehydrogenase 5</i> gene: A case report.Mol Genet Metab Rep2023
36896836Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.Eur J Cancer Prev2023
36632326Total and reduced/oxidized forms of coenzyme Q<sub>10</sub> in fibroblasts of patients with mitochondrial disease.Mol Genet Metab Rep2023
36333996Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.Ann Neurol2023
34625524Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.Arch Dis Child Fetal Neonatal Ed2022
35841085Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents.BMC Cancer2022
36175418A Japanese patient with neonatal biotin-responsive basal ganglia disease.Hum Genome Var2022
36104228A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis.Int Heart J2022
35949244Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.Case Rep Gastroenterol2022
35379322Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome Med2022
36061954Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletion.Mol Genet Metab Rep2022
36053827Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.J Inherit Metab Dis2022
36733053[Report of Multidisciplinary Treatment for Sisters with Li-Fraumeni Syndrome].Gan To Kagaku Ryoho2022
34928480Correction to: APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.Int J Clin Oncol2022
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Collaborators

Yoshihide Hayashizaki
Center for Integrative Medical Sciences
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Yosuke Mizuno
Yokohama National University
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Hidemasa Bono
Hiroshima University
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Piero Carninci
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Yutaka Nakachi
Kumamoto University
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Mater Research Institute-UQ, Translational Research Institute
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Tokyo University of Technology
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Hideo Matsuda
Osaka University
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Fan Zhang
Institute of High Energy Physics (IHEP), Chinese Academy of Sciences
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Fr??d??ric Dallaire
Centre de recherche du Centre hospitalier universitaire de Sherbrooke
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Kyle Cranmer
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Tony Kwan
Co-authored papers 8
Wolfgang Wagner
Center for Integrated Oncology Aachen Bonn Cologne Dusseldorf (CIO ABCD)
Co-authored papers 8
Hideya Kawaji
RIKEN Center for Integrative Medical Sciences
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Stefano Gustincich
Istituto Italiano di Tecnologia
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Boris Ma??ek
Interfaculty Institute for Cell Biology, University of Tubingen
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Brandi M Wynne
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Release 1.2