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Author Details

Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
1991
412
38
PMIDPaper TitleJournal TitlePublished Year
36597280Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.Clin Genet2023
37915370X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to <i>RPGR</i> variant: A case report and literature review.Respirol Case Rep2023
37710961Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.HGG Adv2023
37795857A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant.Pediatr Int2023
37517811Long-term clinical course of Heyn-Sproul-Jackson syndrome.Congenit Anom (Kyoto)2023
37572998BMP2 is a potential causative gene for isolated dextrocardia situs solitus.Eur J Med Genet2023
37817060PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.BMC Genomics2023
37453880Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.Brain Dev2023
36946065Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.Congenit Anom (Kyoto)2023
37315111Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.Sci Transl Med2023
37448313Café-au-lait Spots and Cleft Palate: Not a Chance Association.Cleft Palate Craniofac J2023
37180804A genetic and developmental biological approach for a family with complex congenital heart diseases-evidence of digenic inheritance.Front Cardiovasc Med2023
37308473Oculofaciocardiodental syndrome caused by a novel BCOR variant.Hum Genome Var2023
36974075Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency.Mol Genet Metab Rep2023
37369308Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.Eur J Med Genet2023
37264311Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.BMC Neurol2023
36587803Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.Eur J Med Genet2023
36611008Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA.Hum Mol Genet2023
36513617A novel variant of ARPC4-related neurodevelopmental disorder.Am J Med Genet A2023
36645181Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.Hum Mol Genet2023
36902515Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase.J Clin Med2023
36637081Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.Congenit Anom (Kyoto)2023
36732167Humoral and cellular immune response dynamics in Japanese healthcare workers up to six months after receiving a third dose of BNT162b2 monovalent vaccine.Vaccine2023
36824367miR-514a promotes neuronal development in human iPSC-derived neurons.Front Cell Dev Biol2023
34341476PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.J Hum Genet2022
35680838Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.Hum Genome Var2022
35439611Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.Eur J Med Genet2022
35347493Guidance on the need for contraception related to use of pharmaceuticals: the Japan Agency for Medical Research and Development Study Group for providing information on the proper use of pharmaceuticals in patients with reproductive potential.Int J Clin Oncol2022
35641514Omega-3 fatty acid epoxides produced by PAF-AH2 in mast cells regulate pulmonary vascular remodeling.Nat Commun2022
35532875Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.Int J Hematol2022
35365885A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.J Dermatol2022
35567499Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.Am J Med Genet A2022
35455046<i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.Life (Basel)2022
35363175Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report.Medicine (Baltimore)2022
35861646De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.Hum Mol Genet2022
35717577De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.Hum Mol Genet2022
35625983Mutation of <i>PTPN11</i> (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to <i>BRAP</i> Mutation.Cancers (Basel)2022
35557033<i>TP53</i> variants in p53 signatures and the clonality of STICs in RRSO samples.J Gynecol Oncol2022
35970985Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1.J Hum Genet2022
36062894Elements of morphology: Standard terminology for the trunk and limbs.Am J Med Genet A2022
36116699Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant.Eur J Med Genet2022
35131284Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.J Pediatr2022
35221879Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.Mol Syndromol2022
35185052Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) with Positive Immunohistochemistry for SLCO2A1 Protein.Intern Med2022
35012485Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.BMC Neurol2022
34979968An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.BMC Neurol2022
34916088Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.Brain Dev2022
35183387The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals.Vaccine2022
34914139Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.Congenit Anom (Kyoto)2022
35149236Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant.Eur J Med Genet2022
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Collaborators

Tatsuhiko Tsunoda
The University of Tokyo
Co-authored papers 25
Yutaka Negishi
Gifu Prefectural Tajimi Hospital
Co-authored papers 9
Makoto Suematsu
Keio University School of Medicine
Co-authored papers 8
Domenica Taruscio
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Co-authored papers 4
William A Gahl
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Co-authored papers 4
Gen Nishimura
Co-authored papers 4
Yoshimitsu Fukushima
Nippon Medical School
Co-authored papers 4
Hidewaki Nakagawa
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
Stephen C Groft
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers 4
Tudor Groza
Perth Children's Hospital
Co-authored papers 4
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Gareth Baynam
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Ho Namkoong
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Co-authored papers 3
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Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
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Katsushi Tokunaga
National Center for Global Health and Medicine
Co-authored papers 3
John C Carey
Co-authored papers 3
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 3
Soichi Ogishima
Tohoku University Graduate School of Medicine
Co-authored papers 3
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 2
Petra Kaufmann
Novartis Gene Therapies
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John S Mattick
Australia UNSW RNA Institute
Co-authored papers 2
Tarun Weeramanthri
University of Western Australia
Co-authored papers 2
Yoichiro Kamatani
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Robin D Clark
Loma Linda University Health
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Elaine H Zackai
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Melissa A Haendel
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Release 1.2