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Publicações dos pesquisadores do Genoma USP - 2021

1. Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec;64(12):104367. doi: 10.1016/j.ejmg.2021.104367. Epub 2021 Oct 19. PMID: 34678473

2. Almeida CF, Bitoun M, Vainzof, M. Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy. Faseb Journal, 2021. Faseb J 2021 Apr;35(4):e21346. doi: 10.1096/fj.202001313RRR.

3. Andrade PV, Souza LS, Santos JM, Alves JFF, Lutke C, Amaral JLG, Vainzof M, Silva HCA. Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis. A Case Report. Can J Anaesth. 2021 Dec 13. doi: 10.1007/s12630-021-02170-4. Online ahead of print.

4. Antunes LN, Kimura L, Lemes RB, Mingroni-Netto RC, Batissoco AC. O gene GJB2: da audição ao silêncio. Genética na Escola (on line). , v.16, p.156 - 165, 2021.

5. Asano T, Boisson B and consortium (Collaborators: Zatz M, Passos-Bueno MR et al) X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348

6. Bandeira G , Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, 2021, Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1.

7. Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Werneck da Cunha I, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways. Front Oncol. 2021 Dec 8;11:741526. doi: 10.3389/fonc.2021.741526. eCollection 2021. PMID: 34956867 Free PMC article.

8. Bastard P, et al. Vidigal M, Zatz M, et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340

9. Batissoco AC, Lezirovitz K, Zanata DB, Hemza CRML, Vasques LR, Strauss BE, Mingroni-Netto RC, Haddad LA, Bento RF, Oiticica J. Cochlea cell-specific marker expression upon in vitro Hes1 knockdown. Brazilian Journal of Medical and Biological Research (on line)., v.54, p.e10579, 2021.

10. Bride L, Naslavsky M, Yamamoto GL, Scliar M, Pimassoni LH, Sossai Aguiar P, de Paula F, Wang J, Duarte YAO, Passos-Bueno MR, Zatz M, Imbroisi Valle Errera F. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil. PeerJ. 2021 May 5;9:e11349. doi: 10.7717/peerj.11349. eCollection 2021.PMID: 33996288

11. Bueno ASB, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, SMITS J, Yntema HG, Meyer D; Lezirovitz K, Mingroni-Netto RC. Frequency and origin of the c.2090T>C p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss. European Journal of Human Genetics., v.6may, p.s41431-021-0089 - , 2021.

12. Caires-Junior C, Goulart E, Zatz M. Host genetic susceptibility to ZIKV congenital syndrome: A tale of twins. In: Hollins-Martin C, Preedy V, Rajendram R. Zika Virus Biology, Transmission and Pathways. The Neuroscience of Zika Virus. Cambridge: Academic Press, v1. 2021, 576 p.

13. Caires-Júnior LC, Goulart E, Telles-Silva KA, Silva Araujo BH, Musso CM, Kobayashi G, Oliveira D, Assoni A, Carvalho VM, Ribeiro-Jr AF, Ishiba R, Braga KAO, Nepomuceno N, Caldini E, Rangel T, Raia S, Lelkes PI, Zatz M. Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization. Materials Science and Engineering: C, January 17, 2021doi: 10.1016/j.msec.2020.111862. Epub 2021 Jan 7.

14. Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Med Genet. 2021 Jan 12:jmedgenet-2020-107459. doi: 10.1136/jmedgenet-2020-107459

15. Campos AE, Rosenberg C, Krepischi ACV, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E. An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. PMID: 34602959 Free PMC article.

16. Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Hum Reprod. 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306

17. Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case. Intellect Disabil Res. 2021 Dec;65(12):1049-1057. doi: 10.1111/jir.12891.

18. Carvalho LML, Dangelo CS, Mustacchi Z, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review. Obes Res Clin Pract 15(2):124-132. doi: 10.1016/j. orcp. 2021.01.001. Epub 2021 Feb 20.

19. Castelli EC, de Almeida BS, Muniz YCN, Silva NSB, Passos MRS, Souza AS, Page AE, Dyble M, Smith D, Aguileta G, Bertranpetit J, Migliano AB, Duarte YAO, Scliar MO, Wang J,Passos-Bueno MR, Naslavsky MS, Zatz M, Mendes-Junior CT, Donadi EA. HLA-G genetic diversity and evolutive aspects in worldwide populations. Scientific Reports, Sci Rep. 2021 Nov 29;11(1):23070. doi: 10.1038/s41598-021-02106-4.

20. Castelli EC, de Castro MV, Naslavsky MS, Scliar MO, Silva NSB, Andrade HS, Souza AS, Pereira RN , Castro CFB, Mendes-Junior CT, Meyer D, Nunes K, Matos LRB, Silva MVR, Wang JYT, Esposito J, Coria VR, Bortolin RH, Hirata MH, Magawa JY, Cunha-Neto E, Coelho V, Santos KS, Marin MLC, Kalil J, Mitne-Neto M, Maciel RMB, Passos-Bueno MR, Zatz M. MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals. Front Immunol. 2021 Sep 28;12:742881. doi: 10.3389/fimmu.2021.742881.

21. Castro MAA, Dos Santos JHV, Honjo RS, Yamamoto GL, Bertola DR, Hurst AC, Chorich LP, Layman LC, Kim CA, Kim HG. Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome. Am J Med Genet A. 2021 Dec;185(12):3916-3923. doi: 10.1002/ajmg.a.62454.

22. Castro MV, Santos KS, Apostolico JS, Fernandes ER, 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, MitneNeto M, Maciel RMB, Naslavsky MS, Passos-Bueno MR, Boscardin SB, Rosa DS, Kalil J, Zatz M, Cunha-Neto E. Monozygotic twins discordant for severe clinical recurrence of COVID-19 show drastically distinct T cell responses to SARS-Cov-2. MedRxiV doi: https://doi.org/10.1101/2021.03.26.21253645

23. Castro MV, Silva MVR, Naslavsky MS, Santos KS, Magawa JY, Neto EC, Passos-Bueno MR, Zatz M. COVID-19 in twins: What can we learn from them? MedRxiv, doi: https://doi.org/10.1101/2021.09.29.21263145.

24. Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. PMID: 33434492; PMCID: PMC7896104.

25. Chiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129.

26. Contier ATR, Alonso NB, Araújo NS, Taura M, Cavalheiro EA. Challenges in the treatment of a chronic disease: A study of narratives of people with juvenile myoclonic epilepsy. Seizure. 2021 Apr 6;S1059-1311(21)00118-7. doi: 10.1016/j.seizure.2021.04.004.

27. Costa-Riquetto AD, Santana LS, Caetano LA, Lerário AM, Correia-Deur JEM, Bertola DR, Kim CA, Nery M, Jorge AAL, Teles MG. Targeted massively parallel sequencing for congenital generalized lipodystrophy. Arch Endocrinol Metab. 2021 May 18;64(5):559-566. doi: 10.20945/2359-3997000000278.PMID: 34033296

28. da Rocha LA, Pires LVL, Yamamoto GL, Magliocco Ceroni JR, Honjo RS, de Novaes França Bisneto E, Oliveira LAN,Rosenberg C, Krepischi ACV,Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clin Genet. 2021 Nov;100(5):615-623. doi: 10.1111/cge.14041.

29. de Assis LVM, Moraes MN, Mendes D, Silva MM, Menck CFM, Castrucci AML. Loss of Melanopsin (OPN4) Leads to a Faster Cell Cycle Progression and Growth in Murine Melanocytes. Curr Issues Mol Biol. 2021 Oct 4;43(3):1436-1450. doi: 10.3390/cimb43030101

30. de Castro Fonseca M, de Oliveira JF, Araujo BHS, Canateli C, do Prado PFV, Amorim Neto DP, Bosque BP, Rodrigues PV, de Godoy JVP, Tostes K, Filho HVR, Nascimento AFZ, Saito A, Tonoli CCC, Batista FAH, de Oliveira PSL, Figueira AC, Souza da Costa S, Krepischi ACV, Rosenberg C, Westfahl H Jr, da Silva AJR, Franchini KG. Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X. iScience. 2021 Jul 10;24(8):102841. doi: 10.1016/j.isci.2021.102841. eCollection 2021 Aug 20. PMID: 34381968 Free PMC article.

31. Delinocente LCB, de Carvalho THT, Máximo RO, Chagas MHN, Santos JLF, Duarte YAO, Steptoe A, de Oliveira C, Alexandre TS. Accuracy of different handgrip values to identify mobility limitation in older adults. Arch Gerontol Geriatr. May-Jun 2021;94:104347. doi: 10.1016/j.archger.2021.104347. Epub 2021 Jan 19.

32. Dias VL, de Oliveira Braga KA, Nepomuceno NA, Ruiz LM, Perez JDR, Correia AT, Caires-Junior LC, Goulart E, Zatz M, Pêgo-Fernandes PM. Soluble factors of mesenchimal stem cells (FS-MSC) as a potential tool to reduce inflammation in donor’s lungs after hypovolemic shock. J Bras Pneumol. 2021 Aug 9;47(4):e20200452. doi: 10.36416/1806-3756/e20200452.

33. do Nascimento CF, Dos Santos HG, Batista AFM, Lay AAR, Duarte YAO, Alexandre Dias Porto Chiavegatto Filho. Cause-specific mortality prediction in older residents of São Paulo, Brazil: a machine learning approach. Age Ageing. 2021 May 3;afab067. doi: 10.1093/ageing/afab067. Online ahead of print.

34. Ferreira RO, Granha I, Ferreira RS, Bueno HS, Okamoto OK, Kaid C, Zatz M. Effect of Serial Systemic and Intratumoral Injections of Oncolytic ZIKVBR in Mice Bearing Embryonal CNS Tumors. Viruses. 2021 Oct 19;13(10):2103. doi: 10.3390/v13102103.

35. Figueiredo T, Mendes APD, Moreira DP, Goulart E, Oliveira D, Kobayashi GS, Stern S, Kok F, Marchetto MC, Santos R, Gage FH, Zatz M. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. Mol Psychiatry. 2021 Jul;26(7):3558-3571. doi: 10.1038/s41380-020-00862-9.

36. França MSJ, Zatz M. O legado dos genes: O que a ciência pode nos ensinar sobre o envelhecimento. São Paulo: Ed. Objetiva, 2021.155 p

37. Graça TUS, Santos AL, Yamamoto GL, de Souza RW, Srougé MPP, Pacheco RL,Lima C, Riera R. Telemonitoring programme on COVID-19 for a low-income community in Brazil: case study. BMJ Innov. 2021 Mar : bmjinnov-2020-000619.Published online 2021 Mar 17. doi: 10.1136/bmjinnov-2020-000619

38. Griesi-Oliveira K, Fogo MS, Pinto BGG, Alves AY, Suzuki AM, Morales AG, Ezquina S, Sosa OJ, Sutton GJ, Sunaga-Franze DY, Bueno AP, Seabra G, Sardinha L, Costa SS, Rosenberg C, Zachi EC, Sertie AL, Martins-de-Souza D, Reis EM, Voineagu I, Passos-Bueno MR. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. Mol Psychiatry. 2021 May;26(5):1589-1605. doi: 10.1038/s41380-020-0669-9. Epub 2020 Feb 14.PMID: 32060413 Free PMC article.

39. Griesi-Oliveira K, Passos-Bueno MR. Reply to Lombardo, 2020: An additional route of investigation: what are the mechanisms controlling ribosomal protein genes dysregulation in autistic neuronal cells? Mol Psychiatry. 2021 May;26(5):1436-1437. doi: 10.1038/s41380-020-0792-7. Epub 2020 May 28.PMID: 32467646 Free PMC article. No abstract available.

40. Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet. 2021 Aug 26;12:708348. doi: 10.3389/fgene.2021.708348.

41. Gurgel-Giannetti J, Souza LS, Messina de Pádua Andrade GF, Derlene MF, Meira ZMA, Azevedo BVM, Jr WC, Diniz SSL, Carvalhais MB, Oliveira JRS, Uliana L, Bráulio R, Costa PHN, Filho GB, Vainzof M. A Novel SPEG mutation causing congenital fiber type disproportion myopathy and dilated cardiomyopathy with heart transplantation. NeuromusculDisord. 2021 Nov;31(11):1199-1206. doi: 10.1016/j.nmd.2021.09.005.

42. Henrique AM, Gianetti NG, Ferrari MFR. Parkin is downregulated among autophagy-related proteins prior to hyperphosphorylation of Tau in TS65DN mice. Biochem Biophys Res Commun. 2021 Jul 5;561:59-64. doi: 10.1016/j.bbrc.2021.05.016. Epub 2021 M

43. Honjo RS, Castro MAA, Ferraciolli SF, Soares Junior LAV, Pastorino AC, Bertola DR, Miyake N, Matsumoto N, Kim CA. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Am J Med Genet A. 2021 May;185(5):1561-1568. doi: 10.1002/ajmg.a.62140.

44. Hsia GSP, Esposito J, da Rocha LA, Ramos SLG, Okamoto OK. Clinical Application of Human Induced Pluripotent Stem Cell-Derived Organoids as an Alternative to Organ Transplantation. Stem Cells Int. 2021 Feb 24;2021:6632160. doi: 10.1155/2021/6632160. eCollection 2021.PMID: 33679987

45. Kaid C, Sherwood M, TMitsugi T, Zatz M. Zika virus as an oncolytic therapy against brain tumors. In: Martin C, Hollins-Martin C, Preedy V, Rajendram R. Zika Virus Biology, Transmission, and Pathways - The Neuroscience of Zika Virus. Cambridge: Academic Press, v1. 2021, 576 p.

46. Kaid C, Zatz M. Reply to "Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors". Mol Ther. 2021 Jan 6;29(1):6-7. doi: 10.1016/j.ymthe.2020.12.013. Epub 2020 Dec 11.PMID: 33321096 No abstract available.

47. Kajitani GS, Brace L, Trevino-Villarreal JH, Trocha K, MacArthur MR, Vose S, Vargas D, Bronson R, Mitchell SJ, Menck CFM, Mitchell JR. Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model. Aging (Albany NY). 2021 Oct 10;13(19):22710-22731. doi: 10.18632/aging.203617. Epub 2021 Oct 10.

48. Kajitani GS, Nascimento LLS, Neves MRC, Leandro GDS, Garcia CCM, Menck CFM. Transcription blockage by DNA damage in nucleotide excision repair-related neurological dysfunctions. Semin Cell Dev Biol. 2021 Jun;114:20-35. doi: 10.1016/j.semcdb.2020.10.009. Epub 2020 Nov 21.PMID: 33229217 Review

49. Kerbauy LN, Marin ND, Kaplan M, Banerjee PP, Berrien-Elliott MM, Becker-Hapak M, Basar R, Foster M, Garcia Melo L, Neal CC, McClain E, Daher M, Nunez Cortes AK, Desai S, Inng Lim FW, Mendt MC, Schappe T, Li L, Shaim H, Shanley M, Ensley EL, Uprety N, Wong P, Liu E, Ang SO, Cai R, Nandivada V, Mohanty V, Miao Q, Shen Y, Baran N, Fowlkes NW, Chen K, Muniz-Feliciano L, Champlin RE, Nieto YL, Koch J, Treder M, Fischer W, Okamoto OK, Shpall EJ, Fehniger TA, Rezvani K. Combining AFM13, a Bispecific CD30/CD16 Antibody, with Cytokine-Activated Blood and Cord Blood-Derived NK Cells Facilitates CAR-like Responses Against CD30 ⁺ Malignancies. Clin Cancer Res. 2021 May 13. doi: 10.1158/1078-0432.CCR-21-0164. Online ahead of print.PMID: 33986022

50. Klionsky DJ, Ferrari MFR, Outros E. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8.

51. Kobayashi GS, Brito LA, Moreira DP, Suzuki AM, Hsia GSP, Pimentel LF, de Paiva APB, Dias CR, Lourenço NCV, Oliveira BA, Manuli ER, Corral MA, Cavaçana N, Mitne-Neto M, Sales MM, Dell' Aquila LP, Filho AR, Parrillo EF, Mendes-Corrêa MC, Sabino EC, Costa SF, Leal FE, Sgro GG, Farah CS, Zatz M, Passos-Bueno MR. A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread. Diagnostics (Basel). 2021 Aug 3;11(8):1400. doi: 10.3390/diagnostics11081400.

52. Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M.Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015.

53. Mahadevaraju S, Fear JM, Akeju M, Galletta BJ, Pinheiro MMLS, Avelino CC, Cabral-de-Mello DC, Conlon K, Dell'Orso S, Demere Z, Mansuria K, Mendonça CA, Palacios-Gimenez OM, Ross E, Savery M, Yu K, Smith HE, Sartorelli V, Yang H, Rusan NM, Vibranovski MD, Matunis E, Oliver B. Dynamic sex chromosome expression in Drosophila male germ cells. Nat Commun. 2021 Feb 9;12(1):892. doi: 10.1038/s41467-021-20897-y. PMID: 33563972; PMCID: PMC7873209.

54. Mansur F, Teles E Silva AL, Gomes AKS, Magdalon J, de Souza JS, Griesi-Oliveira K, Passos-Bueno MR, Sertié AL. Complement C4 Is Reduced in iPSC-Derived Astrocytes of Autism Spectrum Disorder Subjects. Int J Mol Sci. 2021 Jul 15;22(14):7579. doi: 10.3390/ijms2214757

55. Meira JGC, Magalhães BS, Ferreira IBB, Tavares DF, Kobayashi GS, Leão EKEA. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. Am J Med Genet A. 2021 ; 185(5):1569-1574. doi: 10.1002/ajmg.a.62141. Epub 2021 Feb 27.

56. Mejía-Granados DM, Villasana-Salazar B, Lozano-García L, Cavalheiro EA, Pasquale Striano P. Gut-microbiota-directed strategies to treat epilepsy: clinical and experimental evidence. Seizure. 2021 Mar 13;S1059-1311(21)00081-9. doi: 10.1016/j.seizure.2021.03.009.

57. Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite FS, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genet Med, 2021 Apr;23(4):661-668. doi: 10.1038/s41436-020-01047-z. Epub 2021 Jan 8

58. 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.

59. Naslavsky MS, Scliar MO, Nunes K, Wang JYT,Yamamoto GL, Guio H, Tarazona-Santos E,Duarte YAO, Passos-Bueno MR, Meyer D, Zatz M. Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. Am J Med Genet C Semin Med Genet. 2021 Jun 29. doi: 10.1002/ajmg.c.31931. Online ahead of print.PMID: 34189818.

60. Naslavsky MS , Scliar MO. Methods to Study Genomic DNA Sequence Variation. Chapter 3 in: Human Genome Structure, Function and Clinical Considerations. Springer, 2021.

61. Naslavsky MS, Vidigal M, Matos LDRB, Cória VR, Batista Junior PB, Razuk Á, Saldiva PHN, Dolhnikoff M, Schidlowski L, Prando C, Cunha-Neto E, Condino-Neto A, Passos-Bueno MR, Zatz M. Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes; Genet Mol Biol. 2021 Mar 1;44(1 Suppl 1):e20200302. doi: 10.1590/1678-4685-GMB-2020-0302. eCollection 2021.PMID: 33651876 Free PMC article.

62. Naslavsky MS, Vidigal M, Matos LRB, Cória VR, Batista Junior PB, Razuk A, Saldiva PHN, Dolhnikoff M, Schidlowski L, Prando C, Cunha-Neto E,Condino-Neto A, Passos-Bueno MR, Zatz M. Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes. Genet Mol Biol. 2021 Mar 1;44(1 Suppl 1):e20200302. doi: 10.1590/1678-4685-GMB-2020-0302.

63. Nishi MY, Faria Júnior JAD, Krepischi ACV, de Moraes DR, da Costa SS, Silva ESDN, Costa EMF, Mendonca BB, Domenice S. A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma. Sex Dev. 2022;16(1):55-63. doi: 10.1159/000517085. Epub 2021 Sep 10.

64. Nóbrega JCL, Medeiros JB, Santos TTM, Alves SAV, Freitas JLGS, Silva JMM, Simões RFM, Brito AL, Weller M, Santos JLF, Menezes TN, Duarte YAO, Zatz M, Matheson D, Santos S. Socioeconomic factors and health status disparities associated with difficulty in ADLs and IADLs among long-lived populations in Brazil: a cross-sectional study. Inquiry. Jan-Dec 2021;58:469580211007264. doi: 10.1177/00469580211007264.

65. Noronha RM, Villares SMF, Torres N, Quedas EPS, Homma TK, Albuquerque EVA, Moraes MB, Funari MFA, Bertola DR, Jorge AAL, Malaquias AC. Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. Am J Med Genet A. 2021 Mar;185(3):774-780. doi: 10.1002/ajmg.a.62039.

66. Oliveira D, Verjovski-Almeida S, Zatz M. Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration. Neural Regen Res. 2021 Sep;16(9):1776-1778. doi: 10.4103/1673-5374.303030

67. Oliveira EJP, Alves LC, Duarte YAO, de Andrade FB. Edentulism-free life expectancy among older Brazilian adults: SABE study, 2006-2016. Gerodontology. 2021 Feb 9. doi: 10.1111/ger.12541. Online ahead of print.

68. Pereira TDSF, Castro LP, Menck CFM, Maia MHT, Souza LL, Fonseca FP, Pontes HAR, Pontes FSC, Gomez RS. Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Mar 28:4601. doi: 10.1016/j.oooo.2021.03.013. Online ahead of print.PMID: 34030998.

69. Pires LVL, Bordim RA, Maciel MBR, Tanaka ACS, Yamamoto GL, Honjo RS, Kim CA, Bertola DR. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Am J Med Genet A. 2021 Oct;185(10):3099-3103. doi: 10.1002/ajmg.a.62376.

70. Pires LVL, Bordim RA, Maciel MBR, Tanaka ACS, Yamamoto GL, Honjo RS, Kim CA, Bertola DR. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Am J Med Genet A. 2021 Jun 3. doi: 10.1002/ajmg.a.62376. Online ahead of print.PMID: 34080768

71. Pires LVL, Ribeiro RL, Sousa AM, Linnenkamp BDW, Pontes SE, Teixeira MCTV, Befi-Lopes DM, Honjo RS, Bertola DR , Kim CA. Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool. Arq Neuropsiquiatr. 2021 Nov;79(11):950-956. doi: 10.1590/0004-282X-ANP-2020-0450.

72. Portugal MFC, Teivelis MP, Silva MFAD, Stabellini N, Fioranelli A, Szlejf C, Amaro Junior E, Wolosker N. Endovascular correction of isolated descending thoracic aortic disease: a descriptive analysis of 1,344 procedures over 10 years in the public health system of São Paulo. Clinics (Sao Paulo). 2021 Feb 5;76:e2332. doi: 10.6061/clinics/2021/e2332. eCollection 2021.PMID: 33567046

73. Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2021 Jan 25:jmedgenet-2020-107447. doi: 10.1136/jmedgenet-2020-107447. Online ahead of print.PMID: 33495304.

74. Rivas M, Aguiar T, Fernandes G, Lemes R, Caires-Júnior L, Goulart E, Telles-Silva K, Maschietto M, Cypriano M, de Toledo S, Carraro D, da Cunha I, da Costa C, Rosenberg C, Krepischi ACV. DNA methylation as a key epigenetic player for hepatoblastoma characterization. Clin Res Hepatol Gastroenterol. 2021 May;45(3):101684. doi: 10.1016/j.clinre.2021.101684. Epub 2021 Apr 20.PMID: 33852955

75. Rivas M, Johnston ME 2nd, Gulati R, Kumbaji M, Margues Aguiar TF, Timchenko L, Krepischi ACV, Shin S, Bondoc A, Tiao G, Geller J, Timchenko N. Cell Mol Gastroenterol Hepatol. 2021;12(5):1669-1682. doi: 10.1016/j.jcmgh.2021.06.026. Epub 2021 Jul 8.

76. Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. J Med Genet. 2021 Nov 8:jmedgenet-2021-107825. doi: 10.1136/jmedgenet-2021-107825. Online ahead of print.

77. Romanelli Tavares VL, Monfardini F, Lourenço NCV, da Rocha KM, Weinmann K, Pavanello R, Zatz M. Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs. Int J Neonatal Screen. 2021 Aug 11;7(3):53. doi: 10.3390/ijns7030053

78. Santos TR, Kaid C, Araújo DD, Neville IS, Uno M, Zatz M, Okamoto OK. Ex vivo expansion of tumor infiltrating lymphocytes (tils) and cancer stem cells from malignant gliomas. Cytotherapy, Volume 23, Issue 4, Supplement, April 2021, Pages 15-16

79. Scliar MO, Sant'Anna HP, Santolalla ML, Leal TP, Araújo NM, Alvim I, Borda V, Magalhães WCS, Gouveia MH, Lyra R, Machado M, Michelin L, Rodrigues MR, Araújo GS, Kehdy FSG, Zolini C, Peixoto SV, Luizon MR, Lobo F, Naslavsky M, Yamamoto GL, Duarte YAO, Hansen MEB, Norris SA, Gilman RH, Guio H, Hsing AW, Mbulaiteye SM, Mensah J, Dutil J, Yeager M, Yeboah E, Tishkoff SA, Choudhury A, Ramsay M, Passos-Bueno MR, Zatz M, O Connor TD, Pereira AC, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. Int J Obes (Lond). 2021 Feb 26. doi: 10.1038/s41366-021-00761-1. Online ahead of print.PMID: 3363334

80. Secolin R, de Araujo TK, Gonsales MC, Rocha CS, Naslavsky M, Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Genetic variability in COVID-19-related genes in the Brazilian population. Hum Genome Var. 2021 Apr 2;8(1):15. doi: 10.1038/s41439-021-00146-w.PMID: 33811212 Free PMC article.

81. Secolin R, Gonsales MC, Rocha CS, Naslavsky M, De Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders. Front Genet. 2021 Mar 25;12:636542. doi: 10.3389/fgene.2021.636542. eCollection 2021.PMID: 33841501 Free PMC article.

82. Singer JM, Rocha FM, Pedroso-de-Lima AC, Silva GL, Coatti GC, Zatz M. Random changepoint segmented regression with smooth transition. Stat Methods Med Res. 2021 Mar;30(3):643-654. doi: 10.1177/0962280220964953. Epub 2020 Nov 4.PMID: 33146585

83. Souza LS, Calyjur P, Ribeiro AF Jr, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. J Mol Neurosci. 2021 Jan 19. doi: 10.1007/s12031-020-01785-4. Online ahead of print.PMID: 33464536

84. Tolezano GC, da Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication. Int J Mol Cell Med. 2020 Fall;9(4):296-306. doi: 10.22088/IJMCM.BUMS.9.4.296. Epub 2021 Jan 27.PMID: 33688487 Free PMC article.

85. Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11.PMID: 33131168

86. Vainzof M, Gurgel-Giannetti J. Muscle regeneration in spastic muscles of children with cerebral palsy. Dev Med Child Neurol. 2021 Jun 6. doi: 10.1111/dmcn.14953. Online ahead of print.PMID: 34091893 No abstract available.

87. Vainzof M , Souza LS, Gurgel-Giannetti J, Zatz M. Sarcoglycanopathies: an update. Neuromuscul Disord.2021Oct;31(10):1021-1027.doi: 10.1016/j.nmd.2021.07.014. Epub 2021 Jul 28.

88. Villela D, de Barros JS, da Costa SS, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. Ann Hum Genet. 2021 Jan;85(1):18-26. doi: 10.1111/ahg.12402. Epub 2020 Aug 6.PMID: 32761927.

89. Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. Am J Med Genet A. 2021 May 14. doi: 10.1002/ajmg.a.62237. Online ahead of print.PMID: 33988290