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Publicações dos pesquisadores do Genoma USP

(Publications by the HUG-CELL researchers)

 

2023	2022	2021	2020	2019	2018	2017
2016	2015	2014	2013	2012	2011
2010	2009	2008	2007	2006	2005
2004	2003	2002

 

 

2023 (primeiro semestre)

1. Alvizi L, Nani D, Brito LA, Kobayashi GS, Passos-Bueno MR, Mayo R. Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction. Nat Commun 14, 2868 (2023). https://doi.org/10.1038/s41467-023-38526-1
   
    

2. Batissoco AC, Cruz DB, Alegria TGP, Kobayashi G, Oiticica J, Netto LES, Maria Rita Passos-Bueno, Haddad LA, Mingroni-Netto RC. GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells. manuscript submitted for publication at Genetics and Molecular Biology.
   
    

3. Bertholim-Nasciben L, Scliar MO, Debortoli G, Thiruvahindrapuram B, Scherer SW, Duarte YAO, Zatz M, Suarez-Kurtz G, Parra EJ, Naslavsky MS. Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data. Front Pharmacol. 2023 May 10;14:1178715. doi: 10.3389/fphar.2023.1178715. eCollection 2023.
   
    

4. Borges JB, Oliveira VF, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, Marçal ESR, Los B, Malaquias VB, Bortolin RH, Freitas RCC, Mori AK, Bastos GM, Gonçalves RM, Araújo DB, Zatz H, Bertolami A, Faludi AA, Bertolami MC, Souza AGMR, França JID, Thurow HS, Hirata TDC, Nakaya HTI, Jannes CE, Pereira AC, Silbiger VN, Luchessi AD, Araújo JNG, Nakazone MA, Carmo TS, Souza DRS, Moriel P, Jaqueline Yu Ting Wang 15, Naslavsky MS, Gorjão R, Pithon-Curi TC, Curi R, Fajardo CM, Hui-Tzu Lin Wang, Garófalo AR, Cerda A, Sampaio MF, Hirata RDC, Hirata MH. Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. Gene. 2023 May 20;875:147501. doi: 10.1016/j.gene.2023.147501. Online ahead of print.
   
    

5. Bucciol G, COVID Human Genetic Effort, Meyts I - (Collaborators, Affiliation - Zatz M) Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children. J Allergy Clin Immunol. 2023 Apr;151(4):832-840. doi: 10.1016/j.jaci.2023.02.003. Epub 2023 Feb 24.
   
    

6. Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, Passos-Bueno MR, Oliveira Mendes TA, Krepischi ACV, Rosenberg C .Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome . Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11.PMID: 37054903
   
    

7. Ceschin II, Ceschin AP, Joya MS, Mitsugi TG, Nishikawa LK, Krepischi AC, Okamoto OK. Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines. Reprod Biomed Online. 2023 Mar;46(3):491-501. doi: 10.1016/j.rbmo.2022.11.020. Epub 2022 Dec 2.PMID: 36737274
   
    

8. Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants . Mol Neurobiol. 2023 Mar 21. doi: 10.1007/s12035-023-03311-0.
   
    

9. Corradi C, Vilar JB, Buzatto VC, de Souza TA, Castro LP, Munford V, De Vecchi R, Galante PAF, Orpinelli F, Miller TLA, Buzzo JL, Sotto MN, Saldiva P, de Oliveira JW, Chaibub SCW, Sarasin A, Menck CFM.) Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors. Carcinogenesis. 17: bgad030. Epub online. 2023
   
    

10. Costa CIS , Campos GS , Montenegro EMS, Wang JIT , Marília Scliar, Frederico Monfardini , Elaine Cristina Zachi, Naila C. V. Lourenço, Ada J S Chan , Sergio L Pereira , Worrawat Engchuan , Bhooma Thiruvahindrapuram , Mehdi Zarrei , Stephen W Scherer, Passos-Bueno MR. Three generation families: analysis of de novo variants in autism.Eur J Hum Genet. 2023 Jun 6. doi: 10.1038/s41431-023-01398-6.
    
     

11. Dangoni GD, Teixeira ACB, Aguiar TF, Sugayama SMM, Filho VO, Bertola DR, Krepischi ACV. A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation. Pediatr Blood Cancer. 2023 Jul;70(7):e30311. doi: 10.1002/pbc.30311. Epub 2023 Mar 25. PMID: 36965188 No abstract available.
    
     

12. de Castro MV, Silva MVR, Oliveira LM, Gozzi-Silva SC, Naslavsky MS, Scliar MO, Magalhães ML, da Rocha KM, Nunes K, Castelli EC, Magawa JY, Santos KS, Cunha-Neto E, Sato MN, Zatz M. Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19. Int J Infect Dis. 2023 Apr;129:207-215. doi: 10.1016/j.ijid.2023.01.042. Epub 2023 Feb 8.
    
     

13. de Mello JM, Andrade PV, Santos JM, Oliveira ASB, Vainzof M, do Amaral JLG, Almeida da Silva HC. Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study. Braz J Anesthesiol. 2023 Mar-Apr;73(2):145-152. doi: 10.1016/j.bjane.2022.06.010. Epub 2022 Jul 11.PMID: 35835312 Free PMC article.
    
     

14. Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. J Med Genet. 2023 Apr 13:jmg-2022-109119. doi: 10.1136/jmg-2022-109119. Online ahead of print. PMID: 37055165
    
     

15. Félix TM, de Souza CFM, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. Int J Equity Health. 2023; 22: 11. Published online 2023 Jan 13. doi: 10.1186/s12939-022-01809-y, PMCID: PMC9837951
    
     

16. Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A,
    
     

17. Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296.
    
     

18. Lopes VG, de Oliveira VF, Dati LMM, Naslavsky MS, Ferreira GM, Hirata MH. Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil. J Biomol Struct Dyn. 2023 Apr 3;1-9. doi: 10.1080/07391102.2023.2191140. Online ahead of print.
    
     

19. Magrino J, Munford V, Martins DJ, Homma TK, Page B, Gaubitz C, Freire BL, Lerario AM, Vilar JB, Amorin A, Leão EKE, Kok F, Menck CF, Jorge AA, Kelch BA. A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder. J Biol Chem. 2023 May;299(5):104656. doi: 10.1016/j.jbc.2023.104656. Epub 2023 Mar 27.
     

20. Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3.PMID: 36737246 No abstract available.
    
     

21. Pires SF, de Barros JS, da Costa SS, de Oliveira Scliar M, Van Helvoort Lengert A, Boldrini É, da Silva SRM, Tasic L, Vidal DO, Krepischi ACV, Maschietto M. DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development. Mol Genet Genomics. 2023 May;298(3):721-733. doi: 10.1007/s00438-023-02010-8. Epub 2023 Apr 5. PMID: 37020053
    
     

22. Sadok SH, Borges-Medeiros RL, de Oliveira DF, Zatz M, Mendes de Oliveira JR. Report of a young patient with brain calcifications with a novel homozygous MYORG variant. Gene. 2023 Apr 5;859:147213. doi: 10.1016/j.gene.2023.147213. Epub 2023 Jan 20.
    
     

23. Serigatto HR, Kokitsu-Nakata NM, Moura PP, Vendramini-Pittoli S, Virmond LA, Peixoto AP, Tonello C, Brito LA, Passos-Bueno MR, Zechi-Ceide RM. Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome. Clin Dysmorphol. 2023 Jan 1;32(1):21-24. doi: 10.1097/MCD.0000000000000434. Epub 2022 Sep 12. PMID: 36503920
    
     

24. Schnöll C, Krepischi ACV, Renck AC, Lima Amato LG, Kulikowski LD, Dantas NCB, Costa EMF, Mendonça BB, Latronico AC, Jorge AAL, Gontijo Silveira LF. SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome. Neuroendocrinology. 2023 Feb 9. doi: 10.1159/000529615. Online ahead of print. PMID: 36758531.
    
     

25. Silva NSB, Souza AS, Andrade HS, Pereira RN, Castro CFB, Vince N, Sophie Limou S, Naslavsky MS, Zatz M, Duarte YAO, Mendes-Junior CT, Castelli EC. Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds. HLA. 2023 Jun;101(6):634-646. doi: 10.1111/tan.15043. Epub 2023 Apr 2.
    
     

26. Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014.
    
     

27. Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132.
    
     

28. Welsh H, Batalha CMPF, W Li, K L Mpye, Souza-Pinto NC, Naslavsky MS, E J Parra. A systematic evaluation of normalization methods and probe replicability using infinium EPIC methylation data. Clin Epigenetics. 2023 Mar 11;15(1):41. doi: 10.1186/s13148-023-01459-z.
    
     

29. Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI (2023) Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients. Nat Commun. 14(1):2561. 2023