Published papers
Kosaki Kenjiro
101-120 items (total 326)
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
- Author
- Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D.
- Publication Title
- Magazine name Am J Med Genet A. Volume 173(Issue 10) Start Page 2690 - End Page 2696 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Truncating mutation in CSNK2B and myoclonic epilepsy.
- Author
- Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T.
- Publication Title
- Magazine name Human Mutation Volume 38(Issue 11) Start Page 1611 - End Page 1612 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Preaxial polydactyly in an individual with Wiedemann-Steiner Syndrome caused by a novel nonsense mutation in KMT2A.
- Author
- 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.
- Publication Title
- Magazine name Am J Med Genet. Volume 173(Issue 10) Start Page 2821 - End Page 2825 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype:Consideration of the historical aspect.
- Author
- KOSAKI KENJIROSakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A. Volume 173(Issue 10) Start Page 2831 - End Page 2833 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
- Author
- KOSAKI KENJIROKizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.
- Publication Title
- Magazine name Horm Res Paediatr. Volume 88(Issue 5) Start Page 316 - End Page 323 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Expansion of the phenotype of Kosaki overgrowth syndrome.
- Author
- KOSAKI KENJIROMinatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uenara T, Kurosawa K, Kosaki K, Curry CJ.
- Publication Title
- Magazine name Am J Med Genet A Volume 173(Issue 9) Start Page 2422 - End Page 2427 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Siblings with optic neuropathy and RTN4IP1 mutation.
- Author
- 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.
- Publication Title
- Magazine name J Hum Genet (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
- Author
- 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
- Publication Title
- Magazine name Sci Rep. Volume 7(Issue (1)) Start Page 3552 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
- Author
- 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.
- Publication Title
- Magazine name Am J Hum Genet. Volume 100(Issue (6)) Start Page 907 - End Page 925 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
- Author
- 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.
- Publication Title
- Magazine name J Hum Genet (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Initiating an undiagnosed diseases program in the Western Australian public health system.
- Author
- 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.
- Publication Title
- Magazine name Orphanet J Rare Dis. Volume 12(Issue (1)) Start Page 83 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
- Author
- KOSAKI KENJIROTakenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A. Volume 173(Issue (6)) Start Page 1631 - End Page 1634 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Novel MCA/ID syndrome with ASH1L mutation.
- Author
- KOSAKI KENJIROOkamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A. Volume 173(Issue (6)) Start Page 1644 - End Page 1648 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Mitochondrial mutations in maternally inherited hearing loss.
- Author
- KOSAKI KENJIROMutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T.
- Publication Title
- Magazine name BMC Med Genet. Volume 18(Issue (1)) Start Page 32 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Diagnostic Use of Computational Retrotransposon Detection: Successful Definition of Pathogenetic Mechanism in Ciliopathy Phenotype
- Author
- KOSAKI KENJIROTakenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 173(Issue (5)) Start Page 1353 - End Page 1357 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
- Author
- KOSAKI KENJIRONegishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
- Publication Title
- Magazine name BMC Med Genet. Volume 18(Issue (1)) Start Page 4 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction
- Author
- KOSAKI KENJIROKimura M, Kohno T, Aizawa Y, Inohara T, Shiraishi Y, Katsumata Y, Egashira T, Fukushima H, Kosaki K, Fukuda K.
- Publication Title
- Magazine name Can J Cardiol. Volume 33(Issue (4)) Start Page 554 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome.
- Author
- KOSAKI KENJIROOkuno H, Nakabayashi K, Abe K, Ando T, Sanosaka T, Kohyama J, Akamatsu W, Ohyama M, Takahashi T, Kosaki K, Okano H.
- Publication Title
- Magazine name Congenit Anom (Kyoto). Volume 57(Issue (4)) Start Page 96 - End Page 103 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
- Author
- KOSAKI KENJIROKosaki R, Terashima H, Kubota M, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A. Volume 173(Issue (1)) Start Page 250 - End Page 253 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes.
- Author
- KOSAKI KENJIROKimura M, Fujisawa T, Aizawa Y, Matsuhashi N, Ito S, Nakajima K, Kashimura S, Kunitomi A, Katsumata Y, Nishiyama T, Kimura T, Nishiyama N, Yuasa S, Takatsuki S, Kosaki K, Fukuda K.
- Publication Title
- Magazine name Int J Cardiol. Start Page 367 - End Page 369 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)