Papers - Kosaki Kenjiro
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Mitochondrial mutations in maternally inherited hearing loss.
KOSAKI KENJIROMutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T.
BMC Med Genet. 18 ( (1) ) 32 2017
Research paper (scientific journal), Joint Work
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Novel MCA/ID syndrome with ASH1L mutation.
KOSAKI KENJIROOkamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
Am J Med Genet A. 173 ( (6) ) 1644 - 1648 2017
Research paper (scientific journal), Joint Work
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Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
KOSAKI KENJIROTakenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K.
Am J Med Genet A. 173 ( (6) ) 1631 - 1634 2017
Research paper (scientific journal), Joint Work
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Initiating an undiagnosed diseases program in the Western Australian public health system.
KOSAKI KENJIROBaynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.
Orphanet J Rare Dis. 12 ( (1) ) 83 2017
Research paper (scientific journal), Joint Work
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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
KOSAKI KENJIROKato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.
J Hum Genet 2017
Research paper (scientific journal), Joint Work
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
KOSAKI KENJIROGabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.
Am J Hum Genet. 100 ( (6) ) 907 - 925 2017
Research paper (scientific journal), Joint Work
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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
KOSAKI KENJIROHori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S
Sci Rep. 7 ( (1) ) 3552 2017
Research paper (scientific journal), Joint Work
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Siblings with optic neuropathy and RTN4IP1 mutation.
KOSAKI KENJIROOkamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
J Hum Genet 2017
Research paper (scientific journal), Joint Work
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Expansion of the phenotype of Kosaki overgrowth syndrome.
KOSAKI KENJIROMinatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uenara T, Kurosawa K, Kosaki K, Curry CJ.
Am J Med Genet A 173 ( 9 ) 2422 - 2427 2017
Research paper (scientific journal), Joint Work, Accepted
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Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
KOSAKI KENJIROKizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.
Horm Res Paediatr. 88 ( 5 ) 316 - 323 2017
Research paper (scientific journal), Joint Work, Accepted
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Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype:Consideration of the historical aspect.
KOSAKI KENJIROSakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K.
Am J Med Genet A. 173 ( 10 ) 2831 - 2833 2017
Research paper (scientific journal), Joint Work, Accepted
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Preaxial polydactyly in an individual with Wiedemann-Steiner Syndrome caused by a novel nonsense mutation in KMT2A.
KOSAKI KENJIROEnokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K.
Am J Med Genet. 173 ( 10 ) 2821 - 2825 2017
Research paper (scientific journal), Joint Work
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Truncating mutation in CSNK2B and myoclonic epilepsy.
Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T.
Human Mutation 38 ( 11 ) 1611 - 1612 2017
Research paper (scientific journal), Joint Work, Accepted
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A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D.
Am J Med Genet A. 173 ( 10 ) 2690 - 2696 2017
Research paper (scientific journal), Joint Work, Accepted
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A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak
KOSAKI KENJIROOhto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K.
Hum Genome Var. 4 17033 2017
Accepted
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Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.
KOSAKI KENJIROEhara Y, Yamamoto O, Kosaki K, Yoshida Y.
J Dermatol. 44 ( 11 ) 1262 - 1267 2017
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A genome-wide association analysis identifies PDE1A|DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population.
KOSAKI KENJIROKimura M, Tamura Y, Guignabert C, Takei M, Kosaki K, Tanabe N, Tatsumi K, Saji T, Satoh T, Kataoka M, Kamitsuji S, Kamatani N, Thuillet R, Tu L, Humbert M, Fukuda K, Sano M.
Oncotarget. 8 ( 43 ) 74917 - 74926 2017
Research paper (scientific journal)
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Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
KOSAKI KENJIROHasegawa D, Ochiai-Shino H, Onodera S, Nakamura T, Saito A, Onda T, Watanabe K, Nishimura K, Ohtaka M, Nakanishi M, Kosaki K, Yamaguchi A, Shibahara T, Azuma T.
PLoS One. 12 ( 10 ) e0186879 2017
Research paper (scientific journal), Joint Work
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A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay.
KOSAKI KENJIROHosokawa M,Shibata H,Ishii T,Fujino A, Kuroda T,Kameyama K,Hasegawa T.
J Pediatr Endocrinol Metab. 29 ( (6) ) 737 - 739 2016
Research paper (scientific journal), Joint Work
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Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
KOSAKI KENJIROHori I,Miya F,Ohashi K,Negishi Y, Hattori A,Ando N,Okamoto N,Kato M,Tsunoda T,Yamasaki M, Kanemura Y,Saitoh S.
Am J Med Genet. 170 ( (7) ) 1863 - 1867 2016
Research paper (scientific journal)