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Page 1
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: kitajima jp. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: kitajima jp. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: kitajima jp. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.
New Insights into the Identity of the DFNA58 Gene.
Nascimento LRD, Vieira-Silva GA, Kitajima JPFW, Batissoco AC, Lezirovitz K. Nascimento LRD, et al. Among authors: kitajima jpfw. Genes (Basel). 2022 Dec 2;13(12):2274. doi: 10.3390/genes13122274. Genes (Basel). 2022. PMID: 36553541 Free PMC article.
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, Cotellessa L, Maddirevula S, Monteiro F, Guardia CM, Kitajima JP, Kok F, Kato M, Hamed AAA, Salih MA, Al Tala S, Hashem MO, Tada H, Saitsu H, Stabile M, Giacobini P, Friant S, Yüksel Z, Nakashima M, Alkuraya FS, Yalcin B, Godin JD. Bayam E, et al. Among authors: kitajima jp. EMBO Mol Med. 2024 Nov 28. doi: 10.1038/s44321-024-00178-z. Online ahead of print. EMBO Mol Med. 2024. PMID: 39609633 Free article.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: kitajima jp. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Towards accurate indel calling for oncopanel sequencing through an international pipeline competition at precisionFDA.
Gong B, Lababidi S, Kusko R, Bouri K, Prezek S, Thovarai V, Prasanna A, Maier EJ, Golkaram M, Sun X, Kyriakidis K, Kitajima JP, Ebrahim Sahraeian SM, Guo Y, Johanson E, Jones W, Tong W, Xu J. Gong B, et al. Among authors: kitajima jp. Sci Rep. 2024 Apr 8;14(1):8165. doi: 10.1038/s41598-024-58573-y. Sci Rep. 2024. PMID: 38589653 Free PMC article.
Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
Kobayashi GS, Vieira-Silva GA, Varella-Branco E, Moreira DP, Kitajima JPFW, Hemza CRML, Mingroni-Netto RC, Lojudice FH, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K. Kobayashi GS, et al. Among authors: kitajima jpfw. Stem Cell Res. 2023 Sep;71:103181. doi: 10.1016/j.scr.2023.103181. Epub 2023 Aug 9. Stem Cell Res. 2023. PMID: 37595341 Free article.
63 results