INCT

Publicações dos pesquisadores do INCT Envelhecimento e Doenças Genéticas

• Julho 2022 – Junho 2023 

• Julho 2021 – Junho 2022 

• Julho 2020 – Junho 2021

• Julho 2019 – Junho 2020

• Julho 2018 – Junho 2019

• Julho 2017 – Junho 2018

 

 

Julho de 2022 a junho de 2023

Publicações em periódicos:

1. 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
    

2. 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
    

3. Amgarten D, Vázquez Iha BK, Piroupo CM, da Silva AM, J Setubal JC. vHULK, a New Tool for Bacteriophage Host Prediction Based on Annotated Genomic Features and Neural Networks. Phage (New Rochelle). 2022 Dec 1;3(4):204-212. doi: 10.1089/phage.2021.0016. Epub 2022 Dec 19.
    

4. Anderson JT, Cowan J, Condino-Neto A , Levy D, Prusty S. Health-related quality of life in primary immunodeficiencies: Impact of delayed diagnosis and treatment burden. Clin Immunol. 2022 Mar;236:108931. doi: 10.1016/j.clim.2022.108931. Epub 2022 Jan 19.
    

5. 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.
    

6. 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
    

7. 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
    

8. Barreiro RAS, Guardia GDA, Meliso FM, Lei X, Li WQ, Savio A, Fellermeyer M, Conceição HB, Mercuri RLV, Landry T, Qiao M, Blazquez L, Ule J, Penalva LOF, Galante PAF . The paralogues MAGOH and MAGOHB are oncogenic factors in high-grade gliomas and safeguard the splicing of cell division and cell cycle genes. RNA Biol. 2023 Jan;20(1):311-322. doi: 10.1080/15476286.2023.2221511.
    

9. Batissoco AC, Cruz DB, Alegria TGP, Kobayashi G, Oiticica J, Netto LES, Passos-Bueno MR, 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.
    

10. Bertholim-Nasciben gene sequencing. Gene. 2023 May 20;875:147501. doi: 10.1016/j.gene.2023.147501. Online ahead of print.
     

11. Bucciol G, COVID Human Genetic Effort, Meyts I - (Collaborators, Affiliation - Zatz M, Condino-Neto A ) 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.
     

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. Carrau A, Josefina Tano J, Moyano L, Ripa MB, Silvana Petrocelli S, Piskulic L, Moreira LM, Patané JSL, Setubal JC , Orellano EG. A novel BLUF photoreceptor modulates the Xanthomonas citri subsp. citri-host plant interaction. Photochem Photobiol Sci. 2023 May 20. doi: 10.1007/s43630-023-00420-6. Online ahead of print.
     

14. 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
     

15. Casotti MC, Meira DD, Alves LNR,Bessa BGO, Campanharo CV, Vicente CR, Aguiar CC, Duque DA, Barbosa DG, dos Santos EVW,Fernanda Mariano Garcia,de Paula F, Santana GM, Pavan IP, Louro LS, Braga RFR, Trabach RSR, Louro TS, de Carvalho FC, Louro ID. Translational Bioinformatics Applied to the Study of Complex Diseases. Genes, v. 14, p. 419, 2023.
     

16. Casotti MC, Meira DD, Zetum ASS, de Araújo BC, da Silva DRC, Dos Santos EVW, Garcia FM, de Paula F , Santana GM, Louro LS, Alves LNR, Braga RFR, Trabach RSR, Bernardes SS, Louro TES, Chiela ECF, Lenz G, de Carvalho EF, Louro ID. Computational Biology Helps Understand How Polyploid Giant Cancer Cells Drive Tumor Success. Genes (Basel). 2023 Mar 26;14(4):801. doi: 10.3390/genes14040801
     

17. 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
     

18. 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
     

19. 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.
     

20. 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. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May
     

21. 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.
     

22. 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 J. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. Neurol Sci. 2022 Jul;43(7):4493-4502. doi: 10.1007/s10072-022-05928-w. Epub 2022 Feb 19.PMID: 35182274
     

23. 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.manuscript submitted for publication at European Journal of Human Genetics
     

24. Cruz RH, de Pontes LG, Condino-Neto A . Allergy, asthma, and proteomics: opportunities with immediate impact. Allergol Immunopathol (Madr). 2023 Jan 1;51(1):16-21. doi: 10.15586/aei.v51i1.567. eCollection 2023.
     

25. Carrau A, Tano J, Moyano L, Ripa MB, Petrocelli S, Piskulic L, Moreira LM, Patané JSL, Setubal JC , Orellano EG. A novel BLUF photoreceptor modulates the Xanthomonas citri subsp. citri-host plant interaction. Photochem Photobiol Sci. 2023 May 20. doi: 10.1007/s43630-023-00420-6. Online ahead of print.
     

26. Daniel Tavares L, Manoel A, Henrique Rizzi Donato T, Cesena F, André Minanni C, Miwa Kashiwagi N, Paiva da Silva L, 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 24.
     

27. 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.
     

28. 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
     

29. 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.
     

30. de Castro MV, Silva MVR, Soares FB, Cória VR, Naslavsky MS , Scliar MO, Castelli EC, de Oliveira JR, de Medeiros GX, Sasahara GL, Santos KS, Cunha-Neto E, Jorge Kalil J, Zatz M. Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report. Frontiers in Medicine (Impact Factor 5.05), 2022. Doi: 10.3389/fmed.2022.1008585
     

31. da Costa EG, Fernandes ID, Albino, VA ; Smania-Marques R, Olinda R, da Silva LF, de Lima AK, Barbosa L, Eli M, Galisa SS, Albuquerque EOME, Smith M, Traxler J, Santos S. Development and Validation of An Evaluation Scale for Audiovisual Production for Health Interventions - ZIKAMOB. Global Journal of Health Science, v. 14, p. 1-15, 2022.
     

32. 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.
     

33. de Mello LEB, Carneiro TNR, Araujo AN, Alves CX, Galante PAF , Buzatto VC, das Graças de Almeida M, Vermeulen-Serpa KM, de Lima Vale SH, José de Pinto Paiva F, Brandão-Neto J, Cerutti JM. Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing. Endocr Connect. 2022 Jan 31;11(1):e210406. doi: 10.1530/EC-21-0406
     

34. de Souza BTBA, Nóbrega JCL, Simões RRF, Barbosa J , Olinda, 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, v. 14, p. 16-29, 2022.
     

35. de Souza AS, de Freitas Amorim VM, Guardia GDA, Dos Santos FF, Ulrich H, Galante PAF, de Souza RF, Guzzo CR. Severe Acute Respiratory Syndrome Coronavirus 2 Variants of Concern: A Perspective for Emerging More Transmissible and Vaccine-Resistant Strains.Viruses. 2022 Apr 16;14(4):827. doi: 10.3390/v14040827.
     

36. 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
     

37. 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
     

38. 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.
     

39. 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
     

40. 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. Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil. Inquiry. 2022 Jan-Dec; 59: 00469580221086922.Published online 2022 Mar 26. doi: 10.1177/00469580221086922
     

41. 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
     

42. 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.
     

43. Giolito MV, La Rosa T, Farhat D, Bodoirat S, Guardia GDA, Domon-Dell C, Galante PAF, Freund JN, Plateroti M. Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRα1, in intestinal lesions. Mol Oncol. 2022 Dec;16(22):3975-3993. doi: 10.1002/1878-0261.13298. Epub 2022 Oct 10.
     

44. 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
     

45. 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.
     

46. 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.
     

47. Inague A, Alecrim LC, Monteiro JS, Yoshinaga MY, Setubal JC , Miyamoto S, Giordano RJ. Oxygen-induced pathological angiogenesis promotes intense lipid synthesis and remodeling in the retina.iScience. 2023 May 4;26(6):106777. doi: 10.1016/j.isci.2023.106777. eCollection 2023 Jun 16.
     

48. Kosti A, Chiou J, Guardia GDA, Lei X, Balinda H, Landry T, Lu X, Qiao M, Gilbert A, Brenner A, Galante PAF , Tiziani S, Penalva LOF. ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics. Neuro Oncol. 2023 Mar 14;25(3):459-470. doi: 10.1093/neuonc/noac179.
     

49. 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.
     

50. 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 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10.
     

51. 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.
     

52. 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.
     

53. 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.
     

54. 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
     

55. Marques JH, Talib LL, Hortêncio L, Andrade JC, Alves TM, Serpa MH, Yamamoto GL, van de Bilt MT, Rössler W, Gattaz WF, Loch AA. Dopamine receptor D2 genetic polymorphism associated with transition to mental disorders in a cohort of individuals with at-risk mental state for psychosis. Braz J Psychiatry. 2023 Apr 4;45(3):268-73. doi: 10.47626/1516-4446-2023-3044. Online ahead of print.
     

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69. 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.
     

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