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Guilherme Lopes Yamamoto, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Louzada S, Algady W, Weyell E, Zuccherato LW, Brajer P, Almalki F, Scliar MO, Naslavsky MS, Yamamoto GL, Duarte YAO, Passos-Bueno MR, Zatz M, Yang F, Hollox EJ. Structural variation of the malaria-associated human glycophorin A-B-E region. BMC Genomics. 2020 Jun 29; 21(1):446. PMID: 32600246.
    Citations:    
  2. Montenegro MM, Quaio CR, Palmeira P, Gasparini Y, Rangel-Santos A, Damasceno J, Novak EM, Gimenez TM, Yamamoto GL, Ronjo RS, Novo-Filho GM, Chehimi SN, Zanardo EA, Dias AT, Nascimento AM, Costa TVMM, Duarte AJDS, Coutinho LL, Kim CA, Kulikowski LD. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases. Mol Genet Genomic Med. 2020 Apr; 8(4):e1133. PMID: 32073752.
    Citations:    
  3. Fernandes SA, Almeida CF, Souza LS, Lazar M, Onofre-Oliveira P, Yamamoto GL, Nogueira L, Tasaki LY, Cardoso RR, Pavanello RCM, Silva HCA, Ferrari MFR, Bigot A, Mouly V, Vainzof M. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. Dis Model Mech. 2020 01 10; 13(2). PMID: 31826868.
    Citations:    
  4. da Silva Montenegro EM, Costa CS, Campos G, Scliar M, de Almeida TF, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism Res. 2020 02; 13(2):199-206. PMID: 31696658.
    Citations:    
  5. Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019 10 03; 105(4):836-843. PMID: 31564437.
    Citations:    
  6. Malaquias AC, Noronha RM, Souza TTO, Homma TK, Funari MFA, Yamamoto GL, Silva FV, Moraes MB, Honjo RS, Kim CA, Nesi-França S, Carvalho JAR, Quedas EPS, Bertola DR, Jorge AAL. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. Horm Res Paediatr. 2019; 91(4):252-261. PMID: 31132774.
    Citations:    
  7. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019 05 02; 104(5):925-935. PMID: 30982609.
    Citations:    
  8. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. PMID: 30773277.
    Citations:    
  9. Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019 04; 121:163-171. PMID: 30599297.
    Citations:    Fields:    
  10. Meira JGC, Sarno MAC, Faria ÁCO, Yamamoto GL, Bertola DR, Scheibler GG, Tavares DF, Acosta AX. Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. Rev Bras Ginecol Obstet. 2018 Sep; 40(9):570-576. PMID: 30231296.
    Citations:    Fields:    
  11. Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 08 01; 141(8):2289-2298. PMID: 30010796.
    Citations:    Fields:    
  12. Sánchez-Sánchez SM, Magdalon J, Griesi-Oliveira K, Yamamoto GL, Santacruz-Perez C, Fogo M, Passos-Bueno MR, Sertié AL. Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder. Hum Mutat. 2018 10; 39(10):1372-1383. PMID: 29969175.
    Citations:    Fields:    
  13. Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertie AL, Zachi EC, Vadasz E, Passos-Bueno MR. Actin cytoskeleton dynamics in stem cells from autistic individuals. Sci Rep. 2018 07 24; 8(1):11138. PMID: 30042445.
    Citations:    Fields:    
  14. Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck I, Passos-Bueno MR. Development of a comprehensive noninvasive prenatal test. Genet Mol Biol. 2018 Jul/Sept.; 41(3):545-554. PMID: 30043834.
    Citations:    
  15. Ceroni JRM, Soares DCQ, Testai LC, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN, Bertola DR, Kim CA. Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 2018 07 02; 73:e324. PMID: 29972438.
    Citations:    Fields:    Translation:Humans
  16. Dantas VGL, Raval MH, Ballesteros A, Cui R, Gunther LK, Yamamoto GL, Alves LU, Bueno AS, Lezirovitz K, Pirana S, Mendes BCA, Yengo CM, Kachar B, Mingroni-Netto RC. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. Sci Rep. 2018 06 07; 8(1):8706. PMID: 29880844.
    Citations:    Fields:    
  17. Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC Med Genet. 2018 05 08; 19(1):73. PMID: 29739340.
    Citations:    Fields:    
  18. Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, da Silva SG, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nat Commun. 2018 03 13; 9(1):1114. PMID: 29535311.
    Citations:    Fields:    
  19. Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genet Mol Biol. 2018 Jan-Mar; 41(1):85-91. PMID: 29473937.
    Citations:    
  20. Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nat Commun. 2018 02 02; 9(1):475. PMID: 29396410.
    Citations: 4     Fields:    Translation:HumansCells
  21. Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. J Clin Endocrinol Metab. 2018 02 01; 103(2):604-614. PMID: 29155992.
    Citations:    Fields:    Translation:Humans
  22. Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. J Bone Miner Res. 2018 04; 33(4):753-760. PMID: 29178448.
    Citations:    Fields:    
  23. Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA, Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A. Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-? Immunity. J Infect Dis. 2017 12 19; 216(12):1623-1634. PMID: 29029192.
    Citations:    Fields:    
  24. Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823. PMID: 29100092.
    Citations: 2     Fields:    Translation:Humans
  25. Nunes LM, Ribeiro R, Niewiadonski VDT, Sabino E, Yamamoto GL, Bertola DR, Gaburo N, da Silva Filho LVRF. A new insight into CFTR allele frequency in Brazil through next generation sequencing. Pediatr Pulmonol. 2017 10; 52(10):1300-1305. PMID: 28771972.
    Citations:    Fields:    Translation:Humans
  26. Naslavsky MS, Yamamoto GL, de Almeida TF, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro E, Duarte YAO, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017 07; 38(7):751-763. PMID: 28332257.
    Citations: 8     Fields:    Translation:Humans
  27. Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Am J Med Genet A. 2017 Apr; 173(4):938-945. PMID: 28328130.
    Citations:    Fields:    Translation:Humans
  28. Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. Am J Med Genet A. 2017 Mar; 173(3):824-828. PMID: 28211982.
    Citations: 1     Fields:    Translation:Humans
  29. Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Post-mortem cytogenomic investigations in patients with congenital malformations. Exp Mol Pathol. 2016 08; 101(1):116-23. PMID: 27450648.
    Citations:    Fields:    Translation:HumansCells
  30. da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D. Nutritional aspects of Noonan syndrome and Noonan-related disorders. Am J Med Genet A. 2016 06; 170(6):1525-31. PMID: 27038324.
    Citations:    Fields:    Translation:Humans
  31. Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Hum Mutat. 2015 Nov; 36(11):1029-33. PMID: 26123647.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  32. Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun; 52(6):413-21. PMID: 25795793.
    Citations: 16     Fields:    Translation:HumansCells
  33. Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A. 2015 May; 167A(5):1039-46. PMID: 25663181.
    Citations: 3     Fields:    Translation:Humans
  34. Toledo RA, Hatakana R, Lourenço DM, Lindsey SC, Camacho CP, Almeida M, Lima JV, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility. Endocr Relat Cancer. 2015 Feb; 22(1):65-76. PMID: 25425582.
    Citations: 8     Fields:    Translation:Humans
  35. Dantas VG, Lezirovitz K, Yamamoto GL, Moura de Souza CF, Ferreira SG, Mingroni-Netto RC. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. Genet Mol Biol. 2014 Oct; 37(4):616-21. PMID: 25505834.
    Citations: 1     
  36. Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A. 2014 Nov; 164A(11):2952-7. PMID: 25124994.
    Citations: 14     Fields:    Translation:Humans
  37. Cuperman T, Fernandes SA, Lourenço NC, Yamamoto LU, Silva HC, Pavanello RC, Yamamoto GL, Zatz M, Oliveira AS, Vainzof M. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report. BMC Res Notes. 2014 Aug 01; 7:487. PMID: 25084811.
    Citations: 1     Fields:    Translation:Humans
  38. Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet. 2014 Jan 02; 94(1):113-9. PMID: 24387991.
    Citations: 6     Fields:    Translation:Humans
  39. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 08; 90(6):1108-15. PMID: 22658544.
    Citations: 84     Fields:    Translation:HumansCells
  40. Bertola D, Aguena M, Yamamoto G, Ae Kim C, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. Am J Med Genet A. 2011 Jun; 155A(6):1483-6. PMID: 21567920.
    Citations:    Fields:    Translation:HumansCells
  41. Marguti I, Yamamoto GL, da Costa TB, Rizzo LV, de Moraes LV. Expansion of CD4+ CD25+ Foxp3+ T cells by bone marrow-derived dendritic cells. Immunology. 2009 May; 127(1):50-61. PMID: 18778287.
    Citations: 12     Fields:    Translation:AnimalsCells
  42. de Moraes LV, Bueno V, Marguti I, Martins GA, Vallochi AL, Yamamoto GL, Panajotopoulos N, Mengel JO, Rizzo LV. Donor bone marrow cells play a role in the prevention of accelerated graft rejection induced by semi-allogeneic spleen cells in transplantation. Transpl Immunol. 2008 Feb; 18(4):330-7. PMID: 18158119.
    Citations:    Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.