Center for Medical Genetics

Research output

Research output per year 1990 2017 2018 2019 2020 2021 2022 2022

• 310 Article
• 36 Letter
• 16 Review article
• 8 Comment/debate
• 2 More
  • 2 Chapter

Research output per year

Research output per year

Search results

• 2022

  A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

  Nakajima, K., Suzuki, H., Yamamoto, M., Yamamoto, T., Kawai, T., Nakabayashi, K., Hata, K., Kosaki, K., Nakajima, H., Sano, S. & Kubo, A., 2022, (Accepted/In press) In: Journal of Dermatology.

  Research output: Contribution to journal › Article › peer-review

  • Joint Instability 100%
  • Missense Mutation 79%
  • Skin 42%
  • Periodontitis 41%
  • Complement C1 30%

• A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis

  Awazu, M., Yamada, M., Asada, N., Hashiguchi, A., Kosaki, K. & Matsumura, K., 2022 Feb 1, In: CEN case reports. 11, 1, p. 116-119 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Focal Segmental Glomerulosclerosis 100%
  • Losartan 61%
  • Oliver Syndrome 57%
  • Prednisolone 52%
  • Proteinuria 49%

• An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions

  Hayakawa, M., Matsubara, T., Mochizuki, Y., Takeuchi, C., Minamitani, M., Imai, M., Kosaki, K., Arai, T. & Murayama, S., 2022 Dec, In: BMC Neurology. 22, 1, 2.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Paraplegia 100%
  • Corpus Callosum 96%
  • Hereditary Spastic Paraplegia 63%
  • Geniculate Bodies 53%
  • Locus Coeruleus 51%
  1 Citation (Scopus)

• A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders

  Yamada, M., Suzuki, H., Shima, T., Uehara, T. & Kosaki, K., 2022 Feb, In: American Journal of Medical Genetics, Part A. 188, 2, p. 613-617 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Exome 100%
  • Undiagnosed Diseases 51%
  • Cerebellar Hypoplasia 25%
  • Whole Genome Sequencing 19%
  • Family Planning Services 19%

• BCS1L mutations produce Fanconi syndrome with developmental disability

  Kanako, K. I., Sakakibara, N., Murayama, K., Nagatani, K., Murata, S., Otake, A., Koga, Y., Suzuki, H., Uehara, T., Kosaki, K., Yoshiura, K. I., Mishima, H., Ichimiya, Y., Mushimoto, Y., Horinouchi, T., Nagano, C., Yamamura, T., Iijima, K. & Nozu, K., 2022 Mar, In: Journal of Human Genetics. 67, 3, p. 143-148 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Fanconi Syndrome 100%
  • Developmental Disabilities 84%
  • Mutation 37%
  • Electron Transport Complex III 32%
  • Mitochondrial Diseases 28%

• Deciphering 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

  Yamada, M., Suzuki, H., Miya, F., Takenouchi, T. & Kosaki, K., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  • Atrial Heart Septal Defects 100%
  • Syndactyly 58%
  • Chromosomes, Human, Pair 4 56%
  • Cleft Lip 48%
  • Cleft Palate 46%

• Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

  Yamada, M., Suzuki, H., Adachi, H., Noguchi, A., Miya, F., Takahashi, T. & Kosaki, K., 2022 Dec, In: BMC Neurology. 22, 1, 20.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pontocerebellar Hypoplasia 100%
  • Solute Carrier Proteins 20%
  • Whole Genome Sequencing 12%
  • Perinatal Death 12%
  • Genetic Counseling 12%

• Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis

  Yamada, M., Arimitsu, T., Suzuki, H., Miwa, T. & Kosaki, K., 2022 Mar, In: Child's Nervous System. 38, 3, p. 659-663 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Lateral meningocele syndrome 100%
  • Early Diagnosis 38%
  • Meningocele 34%
  • Pathologic Dilatations 20%
  • Joint Instability 20%
  1 Citation (Scopus)

• Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7

  Matsukawa, Y., Sakamoto, K., Ikeda, Y., Taga, T., Kosaki, K. & Maruo, Y., 2022, (Accepted/In press) In: International journal of hematology.

  Research output: Contribution to journal › Article › peer-review

  • Lysinuric Protein Intolerance 100%
  • Hemophagocytic Lymphohistiocytosis 73%
  • Inborn Errors Metabolism 14%
  • Human Milk 12%
  • Weaning 11%

• Four pedigrees with aminoacyl-tRNA synthetase abnormalities

  Okamoto, N., Miya, F., Tsunoda, T., Kanemura, Y., Saitoh, S., Kato, M., Yanagi, K., Kaname, T. & Kosaki, K., 2022 Apr, In: Neurological Sciences. 43, 4, p. 2765-2774 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Amino Acyl-tRNA Synthetases 100%
  • Pedigree 79%
  • Whole Exome Sequencing 28%
  • Charcot-Marie-Tooth Disease 10%
  • Epileptic Syndromes 10%
  1 Citation (Scopus)

• Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

  Suzuki, H., Nozaki, M., Yoshihashi, H., Imagawa, K., Kajikawa, D., Yamada, M., Yamaguchi, Y., Morisada, N., Eguchi, M., Ohashi, S., Ninomiya, S., Seto, T., Tokutomi, T., Hida, M., Toyoshima, K., Kondo, M., Inui, A., Kurosawa, K., Kosaki, R., Ito, Y. & 3 others, Okamoto, N., Kosaki, K. & Takenouchi, T., 2022 May, In: Journal of Pediatrics. 244, p. 38-48.e1

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Newborn Infant 100%
  • Genome 88%
  • Phenotype 78%
  • Exome 78%
  • Whole Genome Sequencing 75%

• Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study

  Abe, K., Kitago, M., Kosaki, K., Yamada, M., Iwasaki, E., Kawasaki, S., Mizukami, K., Momozawa, Y., Terao, C., Yagi, H., Abe, Y., Hasegawa, Y., Hori, S., Tanaka, M., Nakano, Y. & Kitagawa, Y., 2022, (Accepted/In press) In: Cancer science.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pancreatic Intraductal Neoplasms 100%
  • Pancreatic Neoplasms 61%
  • Cross-Sectional Studies 42%
  • Neoplasms 16%
  • Whole Exome Sequencing 8%

• Guidance 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

  Suzuki, N., Takai, Y., Yonemura, M., Negoro, H., Motonaga, S., Fujishiro, N., Nakamura, E., Takae, S., Yoshida, S., Uesugi, K., Ohira, T., Katsura, A., Fujiwara, M., Horiguchi, I., Kosaki, K., Onodera, H. & Nishiyama, H., 2022 May, In: International Journal of Clinical Oncology. 27, 5, p. 829-839 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Contraception 100%
  • Biomedical Research 97%
  • Japan 79%
  • Guidelines 49%
  • Pharmaceutical Preparations 39%

• Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A

  Isobe, K., Ieda, D., Miya, F., Miyachi, R., Otsuji, S., Asai, M., Tsunoda, T., Kosaki, K., Hattori, A., Saitoh, S. & Mizuno, M., 2022 Mar, In: Brain and Development. 44, 3, p. 249-253 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Hemorrhagic shock and encephalopathy syndrome 100%
  • Brain Diseases 48%
  • Atrophy 44%
  • Gastrostomy 30%
  • Exome 30%

• Immune subtypes and neoantigen-related immune evasion in advanced colorectal cancer

  Sugawara, T., Miya, F., Ishikawa, T., Lysenko, A., Nishino, J., Kamatani, T., Takemoto, A., Boroevich, K. A., Kakimi, K., Kinugasa, Y., Tanabe, M. & Tsunoda, T., 2022 Feb 18, In: iScience. 25, 2, 103740.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • immune evasion 100%
  • colorectal neoplasms 82%
  • neoplasms 51%
  • chromosomal instability 33%
  • immune system 21%

• Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy

  Murofushi, Y., Hayakawa, I., Abe, Y., Ohto, T., Murayama, K., Suzuki, H., Takenouchi, T., Kosaki, K. & Kubota, M., 2022 Feb 1, In: Neuropediatrics. 53, 1, p. 65-68 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Ketogenic Diet 100%
  • Lysine-tRNA Ligase 41%
  • Premature Mortality 27%
  • Mitochondrial Proteins 27%
  • Deafness 26%

• Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation

  Harigai, R., Sato, R., Hirose, C., Takenouchi, T., Kosaki, K., Hirose, T., Saya, H. & Arima, Y., 2022 May 1, In: Cancers. 14, 10, 2377.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurofibromin 1 100%
  • Neurofibromatosis 1 79%
  • Mitogen-Activated Protein Kinase Kinases 70%
  • Mutation 36%
  • Neurofibrosarcoma 21%

• PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome

  Ohkawa, T., Nishimura, A., Kosaki, K., Aoki-Nogami, Y., Tomizawa, D., Kashimada, K., Morio, T., Kato, M., Mizutani, S. & Takagi, M., 2022 Jan, In: Journal of Human Genetics. 67, 1, p. 51-54 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Alveolar Rhabdomyosarcoma 100%
  • Intellectual Disability 31%
  • Carcinogenesis 25%
  • Whole Exome Sequencing 19%
  • Mutation 18%
  1 Citation (Scopus)

• Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome

  Murakami, H., Uehara, T., Enomoto, Y., Nishimura, N., Kumaki, T., Kuroda, Y., Asano, M., Aida, N., Kosaki, K. & Kurosawa, K., 2022 Feb 1, In: Molecular Syndromology. 13, 1, p. 75-79 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Persistent Hyperplastic Primary Vitreous 100%
  • Coloboma 84%
  • Microphthalmos 83%
  • Casein Kinase II 20%
  • Eye Manifestations 19%

• Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome

  Yamada, M., Suzuki, H., Futagawa, H., Takenouchi, T., Miya, F., Yoshihashi, H. & Kosaki, K., 2022 Jun, In: European Journal of Medical Genetics. 65, 6, 104512.

  Research output: Contribution to journal › Article › peer-review

  • Orofaciodigital Syndromes 100%
  • Postaxial Polydactyly 54%
  • Inheritance Patterns 32%
  • Atrioventricular Septal Defect 24%
  • Genetic Counseling 18%

• Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report

  Umehara, T., Arita, H., Miya, F., Achiha, T., Shofuda, T., Yoshioka, E., Kanematsu, D., Nakagawa, T., Kinoshita, M., Kagawa, N., Fujimoto, Y., Hashimoto, N., Kiyokawa, H., Morii, E., Tsunoda, T., Kanemura, Y. & Kishima, H., 2022, (Accepted/In press) In: Brain tumor pathology.

  Research output: Contribution to journal › Article › peer-review

  • Glioma 100%
  • Recurrence 62%
  • Neoplasms 34%
  • Mutation 13%
  • Clone Cells 13%

• Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report

  Tsuchida, Y., Nagafuchi, Y., Uehara, T., Suzuki, H., Yamada, M., Kono, M., Hatano, H., Shoda, H., Fujio, K. & Kosaki, K., 2022 Feb 18, In: Medicine (United States). 101, 7, p. E28828

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Collagen Type XI 100%
  • Hearing Loss 56%
  • Rheumatoid Arthritis 48%
  • Genes 23%
  • Osteoarthritis 22%

• The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals

  Uwamino, Y., Yokoyama, T., Shimura, T., Nishimura, T., Sato, Y., Wakui, M., Kosaki, K., Hasegawa, N. & Murata, M., 2022 Mar 18, In: Vaccine. 40, 13, p. 1928-1931 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • SARS Virus 100%
  • neutralization 89%
  • Neutralizing Antibodies 67%
  • mutation 46%
  • antibodies 44%

• The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

  Nishi, E., Takenouchi, T., Miya, F., Uehara, T., Yanagi, K., Hasegawa, Y., Ueda, K., Mizuno, S., Kaname, T., Kosaki, K. & Okamoto, N., 2022 Feb, In: American Journal of Medical Genetics, Part A. 188, 2, p. 446-453 8 p.

  Research output: Contribution to journal › Article › peer-review

  • CREB-Binding Protein 100%
  • Exons 57%
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10%
  • Microcephaly 10%
  • Hearing Loss 8%
  1 Citation (Scopus)

• The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant

  Ogura, Y., Uehara, T., Ujibe, K., Yoshihashi, H., Yamada, M., Suzuki, H., Takenouchi, T., Kosaki, K. & Hirata, H., 2022 Apr, In: American Journal of Medical Genetics, Part A. 188, 4, p. 1184-1192 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Zebrafish 100%
  • Intellectual Disability 92%
  • Alleles 47%
  • Haploinsufficiency 42%
  • Aortic Coarctation 40%

• Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant

  Ikura, H., Kitakata, H., Endo, J., Moriyama, H., Sano, M., Tsujikawa, H., Sawano, M., Masuda, T., Ohki, T., Ueda, M., Kosaki, K. & Fukuda, K., 2022 Mar, In: European Journal of Medical Genetics. 65, 3, 104451.

  Research output: Contribution to journal › Article › peer-review

  • Amyloidosis, Hereditary, Transthyretin-Related 100%
  • Prealbumin 79%
  • Amyloid 22%
  • Genes 16%
  • Biopsy 14%

• Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2

  Maruwaka, K., Nakajima, Y., Yamada, T., Tanaka, T., Kosaki, R., Inagaki, H., Kosaki, K. & Kurahashi, H., 2022 Jul, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2246-2250 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Noonan-Like Syndrome With Loose Anagen Hair 100%
  • Noonan Syndrome 55%
  • Growth Hormone 36%
  • Human Growth Hormone 35%
  • Megalencephaly 26%

• Vanishing basal ganglia in ATP1A3-related polymicrogyria

  Ogawa, E., Sakaguchi, Y., Enokizono, M., Yoshihashi, H., Yamada, M., Suzuki, H., Kosaki, K., Miyama, S. & Takenouchi, T., 2022 Feb, In: American Journal of Medical Genetics, Part A. 188, 2, p. 665-667 3 p.

  Research output: Contribution to journal › Letter › peer-review
• 2021

  A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty

  Saito, M., Hirano, D., Kobayashi, H., Kosaki, K. & Miyata, I., 2021 Mar, In: Pediatrics International. 63, 3, p. 338-339 2 p.

  Research output: Contribution to journal › Article › peer-review

• A dyadic approach to the delineation of diagnostic entities in clinical genomics

  Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, Haldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., 2021 Jan 7, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genomics 100%
  • Inborn Genetic Diseases 61%
  • Phenotype 59%
  • Cystic Fibrosis 32%
  • Genes 26%
  28 Citations (Scopus)

• A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

  Ueda, K., Araki, A., Fujita, A., Matsumoto, N., Uehara, T., Suzuki, H., Takenouchi, T., Kosaki, K. & Okamoto, N., 2021 Dec, In: Human Genome Variation. 8, 1, 24.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Joint Instability 100%
  • Muscle Hypotonia 92%
  • Neurodevelopmental Disorders 90%
  • Disorder 65%
  • Language 60%

• A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

  Takahashi, Y., Kubota, M., Kosaki, R., Kosaki, K. & Ishiguro, A., 2021 Mar, In: Brain and Development. 43, 3, p. 464-469 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Autosomal Recessive 2 Spinocerebellar Ataxia 100%
  • Spinocerebellar Ataxias 58%
  • Neurodegeneration with brain iron accumulation (NBIA) 37%
  • Iron 27%
  • frataxin 16%
  3 Citations (Scopus)

• ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

  Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2021 Jan, In: Developmental Medicine and Child Neurology. 63, 1, p. 111-115 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cerebellar Ataxia 100%
  • Atrophy 34%
  • Child 34%
  • Whole Exome Sequencing 23%
  • Mutation 22%
  8 Citations (Scopus)

• Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

  Nishina, S., Hosono, K., Ishitani, S., Kosaki, K., Yokoi, T., Yoshida, T., Tomita, K., Fukami, M., Saitsu, H., Ogata, T., Ishitani, T., Hotta, Y. & Azuma, N., 2021 Oct, In: Journal of Human Genetics. 66, 10, p. 1021-1027 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • CHARGE Syndrome 100%
  • Retinal Dystrophies 89%
  • Blepharophimosis 53%
  • Duane Retraction Syndrome 49%
  • Congenital Microtia 47%

• Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

  Suzuki, H., Inaba, M., Yamada, M., Uehara, T., Takenouchi, T., Mizuno, S., Kosaki, K. & Doi, M., 2021 Apr, In: American Journal of Medical Genetics, Part A. 185, 4, p. 1182-1186 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Muscle Hypotonia 100%
  • Intellectual Disability 78%
  • Seizures 64%
  • Learning Disabilities 34%
  • Phenotype 33%
  7 Citations (Scopus)

• Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

  Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P., Matera, I. & 47 others, Ceccherini, I., Fato, R., Raiola, G., Arrigo, S., Signa, S., Sementa, A. R., Severino, M., Striano, P., Fiorillo, C., Goto, T., Uchino, S., Oyazato, Y., Nakamura, H., Mishra, S. K., Yeh, Y. S., Kato, T., Nozu, K., Tanboon, J., Morioka, I., Nishino, I., Toda, T., Goto, Y. I., Ohtake, A., Kosaki, K., Yamaguchi, Y., Nonaka, I., Iijima, K., Mimaki, M., Kurahashi, H., Raams, A., Macinnes, A., Alders, M., Engelen, M., Linthorst, G., De Koning, T., Den Dunnen, W., Dijkstra, G., Van Spaendonck, K., Van Gent, D. C., Aronica, E. M., Picco, P., Carelli, V., Seri, M., Katsanis, N., Duijkers, F. A. M., Taniguchi-Ikeda, M. & De Giorgio, R., 2021 May 1, In: Brain. 144, 5, p. 1451-1466 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mitochondrial Encephalomyopathies 100%
  • Mitochondrial DNA 54%
  • DNA Ligases 38%
  • Mitochondrial Diseases 32%
  • Ligases 28%
  10 Citations (Scopus)

• Clinical spectrum of individuals with de novo EBF3 variants or deletions

  Nishi, E., Uehara, T., Yanagi, K., Hasegawa, Y., Ueda, K., Kaname, T., Yamamoto, T., Kosaki, K. & Okamoto, N., 2021 Oct, In: American Journal of Medical Genetics, Part A. 185, 10, p. 2913-2921 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Muscle Hypotonia 100%
  • Ataxia 87%
  • Haploinsufficiency 45%
  • Neurogenic Urinary Bladder 30%
  • Motor Skills 27%
  2 Citations (Scopus)

• Clinical utility of SARS-CoV-2 whole genome sequencing in deciphering source of infection

  Keio Donner Project, 2021 Jan, In: Journal of Hospital Infection. 107, p. 40-44 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Severe Acute Respiratory Syndrome 100%
  • Coronavirus 97%
  • Whole Genome Sequencing 90%
  • Infections 37%
  • Viral Genome 29%
  12 Citations (Scopus)

• Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis

  Sakaguchi, Y., Yoshihashi, H., Uehara, T., Miyama, S., Kosaki, K. & Takenouchi, T., 2021 Mar, In: American Journal of Medical Genetics, Part A. 185, 3, p. 884-888 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Coloboma 100%
  • Intellectual Disability 39%
  • Mutation 39%
  • iridal 25%
  • Epilepsy 23%
  3 Citations (Scopus)

• Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

  Tozawa, T., Nishimura, A., Ueno, T., Shikata, A., Taura, Y., Yoshida, T., Nakagawa, N., Wada, T., Kosugi, S., Uehara, T., Takenouchi, T., Kosaki, K. & Chiyonobu, T., 2021 Dec, In: Human Genome Variation. 8, 1, 4.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hereditary Spastic Paraplegia 100%
  • Retinal Degeneration 41%
  • Muscle Hypotonia 40%
  • Fever 25%
  • Phenotype 20%

• Corrigendum to: HECW2-related disorder in four Japanese patients (American Journal of Medical Genetics Part A, (2021), 10.1002/ajmg.a.62363)

  Yanagishita, T., Hirade, T., Yamamoto, K. S., Funatsuka, M., Miyamoto, Y., Maeda, M., Yanagi, K., Kaname, T., Nagata, S., Nagata, M., Ishihara, Y., Miyashita, Y., Asano, Y., Sakata, Y., Kosaki, K. & Yamamoto, T., 2021 Dec, In: American Journal of Medical Genetics, Part A. 185, 12, p. 3926-3927 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Medical Genetics 100%
  • Viverridae 35%
  • Manuscripts 28%
  • Guidelines 15%

• Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks

  Yamada, M., Arimitsu, T., Osada, A. & Kosaki, K., 2021 Sep, In: American Journal of Medical Genetics, Part A. 185, 9, p. 2821-2823 3 p.

  Research output: Contribution to journal › Letter › peer-review

• Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

  Yamada, M., Ono, M., Ishii, T., Suzuki, H., Uehara, T., Takenouchi, T. & Kosaki, K., 2021 Jun, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1836-1840 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Intellectual Disability 100%
  • Spliceosomes 58%
  • U11-U12 small nuclear ribonucleoprotein 45%
  • Introns 40%
  • RNA Recognition Motif Proteins 35%
  1 Citation (Scopus)

• Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

  Abe, K., Ueki, A., Urakawa, Y., Kitago, M., Yoshihama, T., Nanki, Y., Kitagawa, Y., Aoki, D., Kosaki, K. & Hirasawa, A., 2021 Dec, In: Hereditary Cancer in Clinical Practice. 19, 1, 5.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pancreatic Neoplasms 100%
  • Fathers 29%
  • Watchful Waiting 17%
  • Nuclear Family 16%
  • Genetic Testing 15%
  3 Citations (Scopus)

• Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder

  Yamada, M., Kubota, K., Uchida, A., Yagihashi, T., Kawasaki, M., Suzuki, H., Uehara, T., Takenouchi, T., Kurosaka, H. & Kosaki, K., 2021 May, In: American Journal of Medical Genetics, Part A. 185, 5, p. 1544-1549 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Incisor 100%
  • Phenotype 57%
  • Tooth 51%
  • Bone Density 43%
  • Taurodontism 41%
  1 Citation (Scopus)

• Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons

  Aoki, S., Hirata, Y., Kawai, T., Nakabayashi, K., Hata, K., Suzuki, H., Kosaki, K., Amagai, M. & Kubo, A., 2021 Nov, In: Journal of Investigative Dermatology. 141, 11, p. 2756-2760.e8

  Research output: Contribution to journal › Article › peer-review

• Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease

  Nontuberculous Mycobacteriosis and Bronchiectasis – Japan Research Consortium (NTM-JRC), 2021 Aug 1, In: European Respiratory Journal. 58, 2, 1902269.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mycobacterium avium Complex 100%
  • Genome-Wide Association Study 79%
  • EF Hand Motifs 61%
  • Calcineurin 53%
  • Lung 40%

• Germline whole-gene deletion of fh diagnosed from tumor profiling

  Ueki, A., Sugano, K., Misu, K., Aimono, E., Nakamura, K., Tanishima, S., Tanaka, N., Mikami, S., Hirasawa, A., Ando, M., Yoshida, T., Oya, M., Nishihara, H. & Kosaki, K., 2021 Aug 1, In: International journal of molecular sciences. 22, 15, 7962.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fumarate Hydratase 100%
  • deletion 87%
  • genes 73%
  • Gene Deletion 68%
  • Tumors 64%

• GNAO1 mutation-related severe involuntary movements treated with gabapentin

  Akasaka, M., Kamei, A., Tanifuji, S., Asami, M., Ito, J., Mizuma, K., Oyama, K., Tokutomi, T., Yamamoto, K., Fukushima, A., Takenouchi, T., Uehara, T., Suzuki, H. & Kosaki, K., 2021 Apr, In: Brain and Development. 43, 4, p. 576-579 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Gabapentin 100%
  • Dyskinesias 87%
  • Mutation 44%
  • Dantrolene 22%
  • Rhabdomyolysis 19%
  1 Citation (Scopus)

• Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

  Chowdhury, F., Wang, L., Al-Raqad, M., Amor, D. J., Baxová, A., Bendová, Š., Biamino, E., Brusco, A., Caluseriu, O., Cox, N. J., Froukh, T., Gunay-Aygun, M., Hančárová, M., Haynes, D., Heide, S., Hoganson, G., Kaname, T., Keren, B., Kosaki, K., Kubota, K. & 24 others, Lemons, J. M., Magriña, M. A., Mark, P. R., McDonald, M. T., Montgomery, S., Morley, G. M., Ohnishi, H., Okamoto, N., Rodriguez-Buritica, D., Rump, P., Sedláček, Z., Schatz, K., Streff, H., Uehara, T., Walia, J. S., Wheeler, P. G., Wiesener, A., Zweier, C., Kawakami, K., Wentzensen, I. M., Lalani, S. R., Siu, V. M., Bi, W. & Balci, T. B., 2021 Jul, In: Genetics in Medicine. 23, 7, p. 1234-1245 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Eye Abnormalities 100%
  • Haploinsufficiency 96%
  • Proline 80%
  • Iris 27%
  • Wet Macular Degeneration 24%
  1 Citation (Scopus)