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Items: 29

1.

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.

Eur J Med Genet. 2019 Jan 25. pii: S1769-7212(18)30802-4. doi: 10.1016/j.ejmg.2019.01.014. [Epub ahead of print]

PMID:
30690204
2.

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.

PLoS One. 2017 Jan 24;12(1):e0170386. doi: 10.1371/journal.pone.0170386. eCollection 2017.

3.

Analysis of Three Sugarcane Homo/Homeologous Regions Suggests Independent Polyploidization Events of Saccharum officinarum and Saccharum spontaneum.

Vilela MM, Del Bem LE, Van Sluys MA, de Setta N, Kitajima JP, Cruz GM, Sforça DA, de Souza AP, Ferreira PC, Grativol C, Cardoso-Silva CB, Vicentini R, Vincentz M.

Genome Biol Evol. 2017 Feb 1;9(2):266-278. doi: 10.1093/gbe/evw293.

4.

RNAseq Transcriptional Profiling following Whip Development in Sugarcane Smut Disease.

Schaker PD, Palhares AC, Taniguti LM, Peters LP, Creste S, Aitken KS, Van Sluys MA, Kitajima JP, Vieira ML, Monteiro-Vitorello CB.

PLoS One. 2016 Sep 1;11(9):e0162237. doi: 10.1371/journal.pone.0162237. eCollection 2016.

5.

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.

Mol Psychiatry. 2016 Aug;21(8):1125-9. doi: 10.1038/mp.2015.150. Epub 2015 Sep 29.

PMID:
26416544
6.

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.

Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.

7.

Complete Genome Sequence of Sporisorium scitamineum and Biotrophic Interaction Transcriptome with Sugarcane.

Taniguti LM, Schaker PD, Benevenuto J, Peters LP, Carvalho G, Palhares A, Quecine MC, Nunes FR, Kmit MC, Wai A, Hausner G, Aitken KS, Berkman PJ, Fraser JA, Moolhuijzen PM, Coutinho LL, Creste S, Vieira ML, Kitajima JP, Monteiro-Vitorello CB.

PLoS One. 2015 Jun 12;10(6):e0129318. doi: 10.1371/journal.pone.0129318. eCollection 2015.

8.

Whole-Genome Sequence of a Bordetella pertussis Brazilian Vaccine Strain.

Akamatsu MA, Nishiyama MY Jr, Morone M, Oliveira UC, Bezerra MF, Sakauchi MA, Raw I, Junqueira de Azevedo IL, Kitajima JP, Carvalho E, Ho PL.

Genome Announc. 2015 Feb 19;3(1). pii: e01570-14. doi: 10.1128/genomeA.01570-14.

9.

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.

J Med Genet. 2015 Feb;52(2):123-7. doi: 10.1136/jmedgenet-2014-102793. Epub 2014 Dec 19.

PMID:
25527630
10.

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD.

Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar.

11.

Building the sugarcane genome for biotechnology and identifying evolutionary trends.

de Setta N, Monteiro-Vitorello CB, Metcalfe CJ, Cruz GM, Del Bem LE, Vicentini R, Nogueira FT, Campos RA, Nunes SL, Turrini PC, Vieira AP, Ochoa Cruz EA, Corrêa TC, Hotta CT, de Mello Varani A, Vautrin S, da Trindade AS, de Mendonça Vilela M, Lembke CG, Sato PM, de Andrade RF, Nishiyama MY Jr, Cardoso-Silva CB, Scortecci KC, Garcia AA, Carneiro MS, Kim C, Paterson AH, Bergès H, D'Hont A, de Souza AP, Souza GM, Vincentz M, Kitajima JP, Van Sluys MA.

BMC Genomics. 2014 Jun 30;15:540. doi: 10.1186/1471-2164-15-540.

12.

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18.

PMID:
24647604
13.

Combinatory microarray and SuperSAGE analyses identify pairing-dependently transcribed genes in Schistosoma mansoni males, including follistatin.

Leutner S, Oliveira KC, Rotter B, Beckmann S, Buro C, Hahnel S, Kitajima JP, Verjovski-Almeida S, Winter P, Grevelding CG.

PLoS Negl Trop Dis. 2013 Nov 7;7(11):e2532. doi: 10.1371/journal.pntd.0002532. eCollection 2013 Nov.

14.

Complete Genome Sequence of Leifsonia xyli subsp. cynodontis Strain DSM46306, a Gram-Positive Bacterial Pathogen of Grasses.

Monteiro-Vitorello CB, Zerillo MM, Van Sluys MA, Camargo LE, Kitajima JP.

Genome Announc. 2013 Nov 7;1(6). pii: e00915-13. doi: 10.1128/genomeA.00915-13.

15.

Exploring the Schistosoma mansoni adult male transcriptome using RNA-seq.

Almeida GT, Amaral MS, Beckedorff FC, Kitajima JP, DeMarco R, Verjovski-Almeida S.

Exp Parasitol. 2012 Sep;132(1):22-31. doi: 10.1016/j.exppara.2011.06.010. Epub 2011 Jul 2.

16.

Non-coding RNAs in schistosomes: an unexplored world.

Oliveira KC, Carvalho ML, Maracaja-Coutinho V, Kitajima JP, Verjovski-Almeida S.

An Acad Bras Cienc. 2011 Jun;83(2):673-94. Review.

17.

The complete nucleotide sequence and genomic organization of Citrus Leprosis associated Virus, Cytoplasmatic type (CiLV-C).

Pascon RC, Kitajima JP, Breton MC, Assumpção L, Greggio C, Zanca AS, Okura VK, Alegria MC, Camargo ME, Silva GG, Cardozo JC, Vallim MA, Franco SF, Silva VH, Jordão H Jr, Oliveira F, Giachetto PF, Ferrari F, Aguilar-Vildoso CI, Franchiscini FJ, Silva JM, Arruda P, Ferro JA, Reinach F, da Silva AC.

Virus Genes. 2006 Jun;32(3):289-98.

PMID:
16732481
18.

Identification and genomic characterization of a new virus (Tymoviridae family) associated with citrus sudden death disease.

Maccheroni W, Alegria MC, Greggio CC, Piazza JP, Kamla RF, Zacharias PR, Bar-Joseph M, Kitajima EW, Assumpção LC, Camarotte G, Cardozo J, Casagrande EC, Ferrari F, Franco SF, Giachetto PF, Girasol A, Jordão H Jr, Silva VH, Souza LC, Aguilar-Vildoso CI, Zanca AS, Arruda P, Kitajima JP, Reinach FC, Ferro JA, da Silva AC.

J Virol. 2005 Mar;79(5):3028-37.

20.

Structural features and transcript-editing analysis of sugarcane (Saccharum officinarum L.) chloroplast genome.

Calsa Júnior T, Carraro DM, Benatti MR, Barbosa AC, Kitajima JP, Carrer H.

Curr Genet. 2004 Dec;46(6):366-73. Epub 2004 Nov 4.

PMID:
15526204
21.

The genome sequence of the gram-positive sugarcane pathogen Leifsonia xyli subsp. xyli.

Monteiro-Vitorello CB, Camargo LE, Van Sluys MA, Kitajima JP, Truffi D, do Amaral AM, Harakava R, de Oliveira JC, Wood D, de Oliveira MC, Miyaki C, Takita MA, da Silva AC, Furlan LR, Carraro DM, Camarotte G, Almeida NF Jr, Carrer H, Coutinho LL, El-Dorry HA, Ferro MI, Gagliardi PR, Giglioti E, Goldman MH, Goldman GH, Kimura ET, Ferro ES, Kuramae EE, Lemos EG, Lemos MV, Mauro SM, Machado MA, Marino CL, Menck CF, Nunes LR, Oliveira RC, Pereira GG, Siqueira W, de Souza AA, Tsai SM, Zanca AS, Simpson AJ, Brumbley SM, Setúbal JC.

Mol Plant Microbe Interact. 2004 Aug;17(8):827-36.

22.

Comparative genomics of two Leptospira interrogans serovars reveals novel insights into physiology and pathogenesis.

Nascimento AL, Ko AI, Martins EA, Monteiro-Vitorello CB, Ho PL, Haake DA, Verjovski-Almeida S, Hartskeerl RA, Marques MV, Oliveira MC, Menck CF, Leite LC, Carrer H, Coutinho LL, Degrave WM, Dellagostin OA, El-Dorry H, Ferro ES, Ferro MI, Furlan LR, Gamberini M, Giglioti EA, Góes-Neto A, Goldman GH, Goldman MH, Harakava R, Jerônimo SM, Junqueira-de-Azevedo IL, Kimura ET, Kuramae EE, Lemos EG, Lemos MV, Marino CL, Nunes LR, de Oliveira RC, Pereira GG, Reis MS, Schriefer A, Siqueira WJ, Sommer P, Tsai SM, Simpson AJ, Ferro JA, Camargo LE, Kitajima JP, Setubal JC, Van Sluys MA.

J Bacteriol. 2004 Apr;186(7):2164-72.

23.

ORESTES are enriched in rare exon usage variants affecting the encoded proteins.

Sakabe NJ, de Souza JE, Galante PA, de Oliveira PS, Passetti F, Brentani H, Osório EC, Zaiats AC, Leerkes MR, Kitajima JP, Brentani RR, Strausberg RL, Simpson AJ, de Souza SJ.

C R Biol. 2003 Oct-Nov;326(10-11):979-85.

PMID:
14744104
24.

Transcriptome analysis of the acoelomate human parasite Schistosoma mansoni.

Verjovski-Almeida S, DeMarco R, Martins EA, Guimarães PE, Ojopi EP, Paquola AC, Piazza JP, Nishiyama MY Jr, Kitajima JP, Adamson RE, Ashton PD, Bonaldo MF, Coulson PS, Dillon GP, Farias LP, Gregorio SP, Ho PL, Leite RA, Malaquias LC, Marques RC, Miyasato PA, Nascimento AL, Ohlweiler FP, Reis EM, Ribeiro MA, Sá RG, Stukart GC, Soares MB, Gargioni C, Kawano T, Rodrigues V, Madeira AM, Wilson RA, Menck CF, Setubal JC, Leite LC, Dias-Neto E.

Nat Genet. 2003 Oct;35(2):148-57. Epub 2003 Sep 14.

PMID:
12973350
25.

Comparative analyses of the complete genome sequences of Pierce's disease and citrus variegated chlorosis strains of Xylella fastidiosa.

Van Sluys MA, de Oliveira MC, Monteiro-Vitorello CB, Miyaki CY, Furlan LR, Camargo LE, da Silva AC, Moon DH, Takita MA, Lemos EG, Machado MA, Ferro MI, da Silva FR, Goldman MH, Goldman GH, Lemos MV, El-Dorry H, Tsai SM, Carrer H, Carraro DM, de Oliveira RC, Nunes LR, Siqueira WJ, Coutinho LL, Kimura ET, Ferro ES, Harakava R, Kuramae EE, Marino CL, Giglioti E, Abreu IL, Alves LM, do Amaral AM, Baia GS, Blanco SR, Brito MS, Cannavan FS, Celestino AV, da Cunha AF, Fenille RC, Ferro JA, Formighieri EF, Kishi LT, Leoni SG, Oliveira AR, Rosa VE Jr, Sassaki FT, Sena JA, de Souza AA, Truffi D, Tsukumo F, Yanai GM, Zaros LG, Civerolo EL, Simpson AJ, Almeida NF Jr, Setubal JC, Kitajima JP.

J Bacteriol. 2003 Feb;185(3):1018-26.

26.

Comparative genomic analysis of plant-associated bacteria.

Van Sluys MA, Monteiro-Vitorello CB, Camargo LE, Menck CF, Da Silva AC, Ferro JA, Oliveira MC, Setubal JC, Kitajima JP, Simpson AJ.

Annu Rev Phytopathol. 2002;40:169-89. Epub 2002 May 13. Review.

PMID:
12147758
27.

Comparison of the genomes of two Xanthomonas pathogens with differing host specificities.

da Silva AC, Ferro JA, Reinach FC, Farah CS, Furlan LR, Quaggio RB, Monteiro-Vitorello CB, Van Sluys MA, Almeida NF, Alves LM, do Amaral AM, Bertolini MC, Camargo LE, Camarotte G, Cannavan F, Cardozo J, Chambergo F, Ciapina LP, Cicarelli RM, Coutinho LL, Cursino-Santos JR, El-Dorry H, Faria JB, Ferreira AJ, Ferreira RC, Ferro MI, Formighieri EF, Franco MC, Greggio CC, Gruber A, Katsuyama AM, Kishi LT, Leite RP, Lemos EG, Lemos MV, Locali EC, Machado MA, Madeira AM, Martinez-Rossi NM, Martins EC, Meidanis J, Menck CF, Miyaki CY, Moon DH, Moreira LM, Novo MT, Okura VK, Oliveira MC, Oliveira VR, Pereira HA, Rossi A, Sena JA, Silva C, de Souza RF, Spinola LA, Takita MA, Tamura RE, Teixeira EC, Tezza RI, Trindade dos Santos M, Truffi D, Tsai SM, White FF, Setubal JC, Kitajima JP.

Nature. 2002 May 23;417(6887):459-63.

PMID:
12024217
28.

The genome of the natural genetic engineer Agrobacterium tumefaciens C58.

Wood DW, Setubal JC, Kaul R, Monks DE, Kitajima JP, Okura VK, Zhou Y, Chen L, Wood GE, Almeida NF Jr, Woo L, Chen Y, Paulsen IT, Eisen JA, Karp PD, Bovee D Sr, Chapman P, Clendenning J, Deatherage G, Gillet W, Grant C, Kutyavin T, Levy R, Li MJ, McClelland E, Palmieri A, Raymond C, Rouse G, Saenphimmachak C, Wu Z, Romero P, Gordon D, Zhang S, Yoo H, Tao Y, Biddle P, Jung M, Krespan W, Perry M, Gordon-Kamm B, Liao L, Kim S, Hendrick C, Zhao ZY, Dolan M, Chumley F, Tingey SV, Tomb JF, Gordon MP, Olson MV, Nester EW.

Science. 2001 Dec 14;294(5550):2317-23.

29.

The genome sequence of the plant pathogen Xylella fastidiosa. The Xylella fastidiosa Consortium of the Organization for Nucleotide Sequencing and Analysis.

Simpson AJ, Reinach FC, Arruda P, Abreu FA, Acencio M, Alvarenga R, Alves LM, Araya JE, Baia GS, Baptista CS, Barros MH, Bonaccorsi ED, Bordin S, Bové JM, Briones MR, Bueno MR, Camargo AA, Camargo LE, Carraro DM, Carrer H, Colauto NB, Colombo C, Costa FF, Costa MC, Costa-Neto CM, Coutinho LL, Cristofani M, Dias-Neto E, Docena C, El-Dorry H, Facincani AP, Ferreira AJ, Ferreira VC, Ferro JA, Fraga JS, França SC, Franco MC, Frohme M, Furlan LR, Garnier M, Goldman GH, Goldman MH, Gomes SL, Gruber A, Ho PL, Hoheisel JD, Junqueira ML, Kemper EL, Kitajima JP, Krieger JE, Kuramae EE, Laigret F, Lambais MR, Leite LC, Lemos EG, Lemos MV, Lopes SA, Lopes CR, Machado JA, Machado MA, Madeira AM, Madeira HM, Marino CL, Marques MV, Martins EA, Martins EM, Matsukuma AY, Menck CF, Miracca EC, Miyaki CY, Monteriro-Vitorello CB, Moon DH, Nagai MA, Nascimento AL, Netto LE, Nhani A Jr, Nobrega FG, Nunes LR, Oliveira MA, de Oliveira MC, de Oliveira RC, Palmieri DA, Paris A, Peixoto BR, Pereira GA, Pereira HA Jr, Pesquero JB, Quaggio RB, Roberto PG, Rodrigues V, de M Rosa AJ, de Rosa VE Jr, de Sá RG, Santelli RV, Sawasaki HE, da Silva AC, da Silva AM, da Silva FR, da Silva WA Jr, da Silveira JF, Silvestri ML, Siqueira WJ, de Souza AA, de Souza AP, Terenzi MF, Truffi D, Tsai SM, Tsuhako MH, Vallada H, Van Sluys MA, Verjovski-Almeida S, Vettore AL, Zago MA, Zatz M, Meidanis J, Setubal JC.

Nature. 2000 Jul 13;406(6792):151-9.

PMID:
10910347

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