Quem Somos

Publicações dos pesquisadores do Genoma USP - 2022

1. Aguiar T, Teixeira A, Scliar MO, Sobral de Barros J, Lemes RB, Souza S, Tolezano G, Santos F, Tojal I, Cypriano M, Caminada de Toledo SR, Valadares E, Borges Pinto R, Pinto Artigalas OA, Caetano de Aguirre Neto J, Novak E, Cristofani LM, Miura Sugayama SM, Odone V, Cunha IW, Lima da Costa CM, Rosenberg C, Krepischi A. Unraveling the Genetic Architecture of Hepatoblastoma Risk: BirthDefects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes. Front Genet. 2022 Apr 12;13:858396. doi: 10.3389/fgene.2022.858396. eCollection 2022. PMID: 35495172 Free PMC article.
    

2. Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Cabral de Menezes Filho H, Kim CA, Bertola DR. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. Am J Med Genet A. 2022 May;188(5):1545-1549. doi: 10.1002/ajmg.a.62651.
    

3. Alves-Paiva RM, do Nascimento S, de Oliveira D, Coa L, Alvarez K, Hamerschlak N, Okamoto OK, Marti LC, Kondo AT, Kutner JM, Bortolini MAT, Castro R, Preto de Godoy JA. Senescence State in Mesenchymal Stem Cells at Low Passages: Implications in Clinical Use. Frontiers in Cell and Developmental Biology, v. 10, p. 1-10, 2022.
    

4. Alvizi L, Brito LA, Kobayashi GS, Bischain B, da Silva CBF, Ramos SLG, Wang J, Passos-Bueno MR. mir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate. Epigenetics. 2022 Dec;17(13):2278-2295. doi: 10.1080/15592294.2022.2115606. Epub 2022 Sep 1. PMID: 36047706
    

5. 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
    

6. Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA.Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1. PMID: 36373817 . Free PMC article.
    

7. Assoni AF, Foijer F, Zatz M. Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects. Stem Cell Rev Rep. 2023 Apr;19(3):625-638. doi: 10.1007/s12015-022-10489-8. Epub 2022 Dec 14.
    

8. Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Gollop T, Zatz M, Passos-Bueno MR , Krepischi A, Okamoto OK. Novel breast cancer predisposing candidate genes identified in Brazilian families with hereditary breast cancer. EJC, GENETICS| Volume 175, supplement 1, S39, 17 november 2022, DOI: https://doi.org/10.1016/S0959-8049(22)01455-1
    

9. Barreiro RAS, Almeida TF, Gomes CS, Monfardini F, Farias AA, Tunes GC, GM Souza, Duim E, Correia JS, Coelho AVC, Caraciolo MP, Duarte YAO, Zatz M, Amaro E, Oliveira JB, Bitarello BD, Brentani H, Naslavsky MS. Assessing the risk stratification of breast cancer polygenic risk scores in two Brazilian samples. medRxiv. doi: https://doi.org/10.1101/2022.09.09.22279721
    

10. Bastos GC, Tolezano GC, Krepischi ACV. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes. Genes (Basel). 2022 Dec 4;13(12):2285. doi: 10.3390/genes13122285. PMID: 36553552 Free PMC article. Review.
     

11. 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.
     

12. Campane LZ, Nucci MP, Nishiyama M, Von Zuben M, Amaro E Jr, da Luz PL. Long term effects of red wine consumption in brain: an MRI, fMRI and neuropsychological evaluation study Nutr Neurosci. 2022 Aug 9:1-12. doi: 10.1080/1028415X.2022.2108258. Online ahead of print
     

13. Castelli EC, de Castro MV, Naslavsky MS, Scliar MO, Silva NSB, Pereira RN, Ciriaco VAO, Castro CFB, Mendes-Junior CT, Silveira ES, de Oliveira IM, Antonio EC, Vieira GF, Meyer D, Nunes K, Matos LRB, Silva MVR, Wang JYT, Esposito J, Cória VR, Magawa JY, Santos KS, Cunha-Neto E, Kalil J, Bortolin RH, Hirata MH, Dell'Aquila LP, Razuk-Filho A, Batista-Júnior PB, Duarte-Neto AN, Dolhnikoff M, Saldiva PHN, Passos-Bueno MR, Zatz M. MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. Front Immunol. 2022 Oct 25;13:975918. doi: 10.3389/fimmu.2022.975918. eCollection 2022. PMID: 36389712
     

14. Castro LP, Batista-Vieira D, de Souza TA, Timoteo ARS, Coutinho JDL, Pinheiro de Almeida IC, Henriques SRM, de Azevedo FM, Rosa RCA, Kannouche PL, Sarasin A, Menck CFM , Petta TB. XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil. Front Genet. 2022 Jan 17;12:784963. doi: 10.3389/fgene.2021.784963.
     

15. Castro MV, Santos KS, Apostolico JS, Fernandes ER, Rafael R Almeida RR, Levin G, Magawa JY, Nunes JPS, Bruni M, Yamamoto MM, Lima AC, Silva MVR, Matos LRB, Coria VR, Castelli EC, Scliar MO, Kuramoto A, Bruno FR, Jacintho LC, Nunes K, Wang JYT, Coelho VP, Mitne-Neto M , Maciel RMB, Naslavsky MS, Passos -Bueno MR, Boscardin SB, Rosa DS, Kalil J, Zatz M, Cunha-Neto E. Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair. Open Biology, 02 Feb 2022, 12(2):210240 DOI: 10.1098/rsob.210240
     

16. Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Junior RJN, Vainzof M, Quevedo. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. J.Neurol Sci. 2022 Feb 19. doi: 10.1007/s10072-022-05928-w. Online ahead of print.
     

17. Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha AJr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M . Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. Genes 2022, 13, 760. https://doi.org/10.3390/genes13050760
     

18. Dangoni GD, Teixeira ACB, Vince CSC, Novak EM, Gimenez TM, Maschietto M, Odone Filho V, Krepischi ACV .LHX6promoter hypermethylation in oncological pediatric patients conceived by IVF . J Dev Orig Health Dis. 2023 Feb;14(1):140-145. doi: 10.1017/S2040174422000526. Epub 2022 Sep 26. PMID: 36154949
     

19. de Castro MV, Santos KS, Apostolico JS, ..., Naslavsky MS , Passos-Bueno MR, Boscardin SB, Rosa DS, Kalil J, Zatz M, Cunha-Neto E. Recurrence of COVID-19associated with reduced T-cell responses in a monozygotic twin pair. Open Biol. 2022 Feb;12(2):210240. doi: 10.1098/rsob.210240. Epub 2022 Feb 2

20. de Castro MV, Silva MVR, Naslavsky MS, Scliar MO, Nunes K, Passos-Bueno MR, Castelli EC, Magawa JY, Adami FL, Moretti AIS, de Oliveira VL, Boscardin SB, Cunha-Neto E, Kalil J, Jouanguy E, Bastard P, Casanova JL, Quiñones-Vega M, Sosa-Acosta P, Guedes JS, de Almeida NP, Nogueira FCS, Domont GB, Santos KS, Zatz M. Correction: The oldest unvaccinated Covid-19 survivors in South America. Immun Ageing. 2022 Dec 7;19(1):61. doi: 10.1186/s12979-022-00319-3. PMID: 36476248
     

21. Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G; Baylor-Hopkins Center for Mendelian Genomics; Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR.Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability HGG Adv. 2022 Aug 4;3(4):100132. doi: 10.1016/j.xhgg.2022.100132. eCollection 2022 Oct 13
     

22. Escher LM, Naslavsky MS, Scliar MO, Duarte YAO, Zatz M, Nunes K, Oliveira SF. Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population. Sci Rep. 2022 Dec 8;12(1):21240. doi: 10.1038/s41598-022-25521-7.
     

23. Feltes BC, Menck CFM. Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations. Mutat Res Rev 790:108436. 2022.
     

24. Fidalgo F, Torrezan GT, Sá BCS, Barros BDF, Moredo LF, Valieris R, de Souza SJ, Duprat JP, Krepischi ACV, Carraro DM. Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PLoS One. 2022 Jan 27;17(1):e0262419. doi: 10.1371/journal.pone.0262419.
     

25. Freire BL, Homma TK, Lerario AM, Seo GH, Han H, de Assis Funari MF, Gomes NL, Rosemberg C, Krepischi ACV, de Andrade Vasques G, Malaquias AC, de Lima Jorge AA. V High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight. Am J Med Genet A. 2022 Sep;188(9):2599-2604. doi: 10.1002/ajmg.a.62892. Epub 2022 Jul 6. PMID: 35792504
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26. Freitas JLGS, Silva JMM, Nóbrega JCL, Simões RFM, Medeiros JB, Alves RO, Santos JLF, Duarte YAO, Zatz M, Matheson D, de Menezes TN, Santos S. Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil. Inquiry. Jan-Dec 2022; 59:469580221086922. doi: 10.1177/00469580221086922.
     

27. 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, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. PMID: 35982160
     

28. Galisa ALG, Jacob PL, de Farias AA, Lemes RB, Alves LU, Nóbrega JCL, Zatz M, Santos S , Mathias Weller. Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil. Genet Mol Biol. 2022 Feb 2;45(1):e20210172. doi: 10.1590/1678-4685-GMB-2021-0172. eCollection 2022.
     

29. Ghirotto B, Oliveira DF, Cipelli M, Basso PJ, de Lima J, Breda CNS, Ribeiro HC, Silva CCC, Hiyane MI, Caldini EG, Sussulini A, Kowaltowski AJ, Oliveira EML, Zatz M, Camara NOS. MS-driven metabolic alterations are recapitulated in iPSC-derived astrocytes. Ann Neurol. 2022 May;91(5):652-669. doi: 10.1002/ana.26336. Epub 2022 Mar 17.
     

30. Godoy JAP, Bonamino M, Melo RAP, Kondo AT, Okamoto OK, Kerbauy LN. CAR-T cell production. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 155, 2022
     

31. Godoy JAP, Kerbauy LN, Paiva RMA, Kondo AT, Okamoto OK, Kutner JM. Advanced Cell Therapy product release containing CAR-T cells. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 156, 2022
     

32. Godoy JAP, Kerbauy LN, Paiva RMA, Kondo AT, Okamoto OK , Bonamino M . Preclinical studies using CAR-T cells. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 154, 2022.
     

33. Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Wilson Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Vilma-Lotta Lehtokari, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995.
     

34. Gomes FC, Santos IBF, Stephani C M, Ferrari MFR, Galvis-Alonso O, Goloni-Bertollo EM, Melo-Neto JS, Pavarino EC. Vitamin D3 supplementation may attenuate morphological and molecular abnormalities of the olfactory bulb in a mouse model of Down syndrome. Tissue & Cell, , https://doi.org/10.1016/j.tice.2022.101898
     

35. Honjo RS, Monteleone VF, Aiello VD, Wagenfuhr J, Issa VS, Pomerantzeff PMA, Furusawa EA, Zanardo EA, Kulikowski LD, Bertola DR, Kim CA. Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases. Am J Med Genet A. 2022 Feb;188(2):676-682. doi: 10.1002/ajmg.a.62542.
     

36. Kajitani GS, Quayle C, Garcia CCM, Fotoran WL, Dos Santos JFR, van der Horst GTJ, Hoeijmakers JHJ, Menck CFM. Photorepair of Either CPD or 4PP DNA Lesionsin Basal Keratinocytes Attenuates Ultraviolet-Induced Skin Effects in Nucleotide Excision Repair Deficient Mice. Front Immunol. 2022 Mar 29;13:800606. doi: 10.3389/fimmu.2022.800606
     

37. Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM , Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6.
     

38. Kowaltowski A, Naslavsky MS, Zatz M. Open access: Brazilian scientists denied waivers and discounts. Nature. 2022 Mar;603(7903):793. doi: 10.1038/d41586-022-00864-3.
     

39. Latancia MT, Moreno NC, Leandro GS, Ribeiro VC, de Souza I, Vieira WKM, Bastos AU, Hoch NC, Rocha CRR, Menck CFM. DNA polymerase eta protects human cells against DNA damage induced by the tumor chemotherapeutic temozolomide. Mutat Res Genet Toxicol Environ Mutagen 878:503498. 2022
     

40. Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 Mar 28. doi: 10.1002/humu.24375.
     

41. Linnenkamp B, Girardi R, Rocha L, Yamamoto GL , Ceroni JR, Mendes AEC, Honjo R, Oliveira LA, Amemiya RB, Quaio C, de Oliveira Filho JB, Kim CA, Bertola DR. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis. Clin Genet. 2022 Apr;101(4):476-478. doi: 10.1111/cge.14118.
     

42. Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W.Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients . BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w.
     

43. Machado RA, de Andrade RS, Pêgo SPB, Krepischi ACV, Coletta RD, Martelli-Júnior H. New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes. J Periodontol. 2023 Jan;94(1):108-118. doi: 10.1002/JPER.22-0219. Epub 2022 Jul 1. PMID: 35665929
     

44. Machado-Costa MC, Mitne-Neto M, Costa LHD, Alves LM, Oliveira LSB, Zatz M, Silva HCA. Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8. Can J Neurol Sci. 2022 Dec 2;1-6. doi: 10.1017/cjn.2022.331. Online ahead of print.
     

45. Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, et al… … (de Castro MV , Zatz M.) The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119. Epub 2022 May 16.
     

46. Marodin MSJ, Godoy JA, Alves-Paiva RM, Alvarez K, Mitsugi TG, Krepischi ACV, Hamerschlak N, Bortolini MAT, Castro R, Kondo AT, Kutner JM, Okamoto OK. Preclinical Evaluation of the Tumorigenic and Immunomodulatory Properties of Human Bone Marrow Mesenchymal Stromal Cell Populations with Clonal Trisomy 5 . Stem Cells Int. 2022 Aug 19;2022:1613636. doi: 10.1155/2022/1613636. eCollection 2022. PMID: 36035513 Free PMC article.
     

47. Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carrera CS, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Pierre-Emmanuel Morange, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Yu-Lung Lau, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC Covid-19 Biobank; NIAID-USUHS COVID Study Group; Meyts I, Shen-Ying Z, Puel A, Notarangelo LD, Boisson-Dupui S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L, Cobat A. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. medRxiv. 2022 Oct 25;2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. Preprint
     

48. Martins DJ, Tirman S, Quinet A, Menck CFM. Detection of Post-Replicative Gaps Accumulation and Repair in Human Cells using the DNA Fiber Assay. J Vis Exp. 2022 Feb 3;(180). doi: 10.3791/63448.
     

49. Melo TQ, Palma FR, Gomes F, Netto LES, Ferrari MFR. Absence of Gem1 (mammalian Miro/Rhot) mitigates alpha-synuclein toxicity in a yeast model of Parkinson's disease. Molecular And Cellular Neuroscience, doi: 10.1016/j.mcn.2022.103757
     

50. Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR , Weinmann KS, de Lima MA, Nader HB, Sertié A L, Passos-Bueno MR. Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport. Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302.
     

51. Moreira-Neto A, Ugrinowitsch C, Coelho DB, de Lima-Pardini AC, Barbosa ER, Teixeira LA, Amaro E Jr, Horak FB, Mancini M, Nucci MP, Silva-Batista C. Freezing of gait, gait initiation, and gait automaticity share a similar neural substrate in Parkinson's disease. Hum Mov Sci. 2022 Dec;86:103018. doi: 10.1016/j.humov.2022.103018. Epub 2022 Nov.
     

52. Nani DA, Hsia GSP, Passos-Bueno MR, Kobayashi GS. Modeling Early Neural Crest Development via Induction from hiPSC-Derived Neural Plate Border-like Cells. Methods Mol Biol . 2022 Mar 31. doi: 10.1007/7651_2021_454.
     

53. Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Dos Santos Brito Silva N, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M.Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil. Nat Commun. 2022 Mar 4;13(1):1004. doi: 10.1038/s41467-022-28648-3
     

54. Naslavsky MS, Suemoto CK, Brito LA, Scliar MO, Ferretti-Rebustini RE, Rodriguez RD, Leite REP, Araujo NM, Borda V, Tarazona-Santos E, Jacob-Filho W, Pasqualucci C, Nitrini R, Yaffe K, Zatz M, Grinberg LT. Global and local ancestry modulate APOE association with Alzheimer's neuropathology and cognitive outcomes in an admixed sample. Mol Psychiatry. 2022 Nov;27(11):4800-4808. doi: 10.1038/s41380-022-01729-x. Epub 2022 Sep 7.
     

55. Netto LES, Machado LESF. Preferential redox regulation of cysteine-based protein tyrosine phosphatases: structural and biochemical diversity. FEBS J. 2022 Sep;289(18):5480-5504. doi: 10.1111/febs.16466. Epub 2022 May 11.
     

56. Nóbrega JCL, Medeiros JB, Freitas JLGS, Silva JMM, Simões RFM, Olinda R, Santos JLF, Menezes TN, Duarte YAO, Zatz M, Matheson D, Santos S. Psychosocial aspects and support networksassociated with disability in two longevous populations in Brazil: a cross-sectional study. BMC Geriatrics, 1/2, BMC Geriatr. 2022 Feb 9;22(1):110. doi: 10.1186/s12877-022-02810-4.
     

57. Palacios-Muñoz A, de Paula Moreira D, Silva V, García IE, Aboitiz F, Zarrei M, Campos G, Rennie O, Howe JL, Anagnostou E, Ambrozewic P, Scherer SW, Passos-Bueno MR , Ewer J. Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. Mol Psychiatry. 2022 May 2. doi: 10.1038/s41380-022-01555-1. Online ahead of print
     

58. Palmeira O, Larissa RB Matos LRB, Naslavsky MS, Heloisa MS Bueno HMS, Soler JP, Setubal JC, Zatz M . Longitudinal 16S rRNA gut microbiota data of infant triplets show partial susceptibility to host genetics. iScience. 2022 Feb 2;25(3):103861. doi: 10.1016/j.isci.2022.103861.
     

59. Passos-Bueno MR, Costa, CIS, Zatz M. Dystrophin genetic variants and autism. Discover Mental Health, volume 2, Article number: 4 (2022)
     

60. Quintero-Ruiz N, Corradi C, Moreno NC, de Souza TA, Pereira Castro L, Rocha CRR, Menck CFM. Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells†. Photochem Photobiol. 2022 98(3):713-731.
     

61. Reis EP, de Paiva JPQ, da Silva MCB, Ribeiro GAS, Paiva VF, Bulgarelli L, Lee HMH, Santos V, Brito VM, Amaral LTW, Beraldo GL, Haidar Filho JN, Teles GBS, Szarf G, Pollard T, Johnson AEW, Celi LA, Amaro E Jr. BRAX, Brazilian labeled chest x-ray dataset. Sci Data. 2022 Aug 10;9(1):487. doi: 10.1038/s41597-022-01608-8.PMID: 35948551
     

62. Rezende RC, Noronha RM, Keselman A, Quedas EPS, Dantas NCB, Andrade NLM, Bertola DR, Malaquias AC, Jorge AAL. Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys. Horm Res Paediatr. 2022;95(1):51-61. doi: 10.1159/000522670.
     

63. Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome. Genomics. 2022 Sep;114(5):110468. doi: 10.1016/j.ygeno.2022.110468.
     

64. Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscul Disord. 2022 Oct;32(10):836-841. doi: 10.1016/j.nmd.2022.08.001. Epub 2022 Aug 6.
     

65. Silva MVR, de Castro MV, Passos-Bueno MR, Otto PA, Naslavsky MS, Zatz M. Men are the main COVID-19 transmitters: behavior or biology? Discov Ment Health. 2022;2(1):1. doi: 10.1007/s44192-022-00004-3. Epub 2022 Jan 24
     

66. Silva JMM, Freitas JLGS, Nóbrega JCL, Medeiros JB, Simões RFM, Olinda R, Santos JLF, Duarte YAO, Zatz M, Matheson D, Santos S, Menezes TN. Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people. BMC Geriatr. 2022 Dec 2;22(1):931. doi: 10.1186/s12877-022-03630-2.
     

67. Silva MVR, Mateus V de Castro, Maria Rita Passos-Bueno, Paulo A Otto, Michel S Naslavsky, Mayana Zatz. Men are the main COVID-19 transmitters: behavior or biology? Discov Ment Health. 2022;2(1):1. doi: 10.1007/s44192-022-00004-3. Epub 2022 Jan 24
     

68. Souza BTBA, Nóbrega JCL, Simões RRF, Barbosa J, Olinda RA, Duarte YAO, Zatz M , Santos S. A Comparative Study of Prevalence and Risk Factors Associated with Depressive Symptoms in Two Long-Lived Elderly Populations in Brazil. Global Journal of Health Science.1-16, 14/1/2022
     

69. Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA. Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II. Clinics (Sao Paulo). 2022 Jul 23;77:100082. doi: 10.1016/j.clinsp.2022.100082. eCollection 2022.
     

70. Tangye SG, COVID Human Genetic Effort consortium. (Collaborators, Affiliation - Zatz M  Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity. J Allergy Clin Immunol. 2023 Apr;151(4):818-831. doi: 10.1016/j.jaci.2022.11.010. Epub 2022 Dec 13.
     

71. Tasic L, Avramović N, Jadranin M, Quintero M, Stanisic D, Martins LG, Costa TBBC, Novak E, Odone V, Rivas M, Aguiar T, Carraro DM, Werneck da Cunha I, Lima da Costa CM, Maschietto M, Krepischi A. High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks . Biomedicines. 2022 Dec 1;10(12):3091. doi: 10.3390/biomedicines10123091

72. Tavares DL, Manoel A, Donato THR, Cesena F, Minanni CA, Kashiwagi NM, da Silva LP, Amaro E Jr, Szlejf C. Prediction of metabolic syndrome: A machine learning approach to help primary prevention. Diabetes Res Clin Pract. 2022 Sep;191:110047. doi: 10.1016/j.diabres.2022.110047. Epub 2022 Aug
     

73. Telles-Silva KA, Pacheco L, Komatsu S, Chianca F, Caires-Júnior LC, Araujo BHS, Goulart E, Zat z M. Applied Hepatic Bioengineering: Modeling the Human Liver Using Organoid and Liver-on-a-Chip Technologies. Front Bioeng Biotechnol. 2022 Feb 14;10:845360. doi: 10.3389/fbioe.2022.845360
     

74. Teles e Silva AL, Glaser T, Griesi-Oliveira K, Corrêa-Velloso J, Wang JYT, da Silva Campos G, Ulrich H, Balan A, Zarrei M, Higginbotham EJ, Scherer SW, Passos-Bueno MR , Sertié AL. Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Transl Psychiatry. 2022 Jun 6;12(1):234. doi: 10.1038/s41398-022-01997-9. PMID: 35668055
     

75. Vasconcelos, FTGR, Carvalho, LML, Souza LS, Barbosa IN, Dávila CK, Zatz M, Vainzof M . Modelos animais no estudo de doenças genéticas humanas. Genetica na Escola 17 (1), pag 26, 2022.
     

76. Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Futher delineation of auriculocondylar syndrome based on 14 novel cases and reassessement of 25 published cases. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7.
     

77. Zatz M, Silva MVR, Castro MV, Naslavsky MS . The 90 plus: longevity and COVID-19 survival. Mol Psychiatry. 2022 Apr;27(4):1936-1944. doi: 10.1038/s41380-022-01461-6. Epub 2022 Feb 8
     

78. Zhang Q, Matuosso D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Monca-Velez M, Kendir-Demirkol Y, Jing H,, Bizienl L, Marchal A, Abolhassani H, Delafontaine S, Buccioli G, Covid Human Genetic Effort, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Chien Lye D, Young BE, Yee-Sin Leo, Dalgard CL, Lifton RF, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan- Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Shen-Ying Zhang, Cobat A, Casanova JL. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med (2022) 219(8):20220131 https://doi.org/10.1084/jem. 20220131