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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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. 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 03. PMID: 34080768.
    Citations:    Fields:    
  2. 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 MS, 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 May; 45(5):1017-1029. PMID: 33633342.
    Citations:    Fields:    
  3. Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. Am J Med Genet C Semin Med Genet. 2020 12; 184(4):896-911. PMID: 33128510.
    Citations:    Fields:    
  4. Hinckel BB, Baumann CA, Ejnisman L, Cavinatto LM, Martusiewicz A, Tanaka MJ, Tompkins M, Sherman SL, Chahla JA, Frank R, Yamamoto GL, Bicos J, Arendt L, Fithian D, Farr J. Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 Pandemic. J Am Acad Orthop Surg Glob Res Rev. 2020 10 01; 4(10):e20.00083. PMID: 33986224.
    Citations:    Translation:HumansPHPublic Health
  5. 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. PMID: 32986223.
    Citations:    Fields:    
  6. Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M. Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype. Neurol Genet. 2020 Oct; 6(5):e513. PMID: 33062893.
    Citations: 1     
  7. 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:    Fields:    Translation:Humans
  8. 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 04; 8(4):e1133. PMID: 32073752.
    Citations: 2     Fields:    Translation:HumansCells
  9. 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: 2     Fields:    Translation:HumansCells
  10. 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: 1     Fields:    Translation:Humans
  11. 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     Fields:    Translation:HumansAnimalsCells
  12. 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: 1     Fields:    Translation:HumansCTClinical Trials
  13. 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: 20     Fields:    Translation:HumansAnimals
  14. 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: 3     Fields:    Translation:HumansAnimalsCells
  15. 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: 3     Fields:    Translation:Humans
  16. 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:    Translation:Humans
  17. 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: 4     Fields:    Translation:HumansCells
  18. 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: 6     Fields:    Translation:HumansCells
  19. 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: 4     Fields:    Translation:HumansAnimalsCells
  20. 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: 3     
  21. 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
  22. 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: 2     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
  23. 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: 1     Fields:    Translation:HumansCells
  24. 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: 1     Fields:    
  25. 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:    
  26. 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: 35     Fields:    Translation:HumansCells
  27. 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: 7     Fields:    Translation:Humans
  28. 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: 5     Fields:    Translation:Humans
  29. 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: 6     Fields:    Translation:HumansCells
  30. 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: 6     Fields:    Translation:Humans
  31. 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: 2     Fields:    Translation:Humans
  32. 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: 54     Fields:    Translation:Humans
  33. 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. . 2017 Apr; 173(4):938-945. PMID: 28328130.
    Citations: 2     Translation:Humans
  34. 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. . 2017 Mar; 173(3):824-828. PMID: 28211982.
    Citations: 4     Translation:Humans
  35. 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: 2     Fields:    Translation:HumansCells
  36. 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. . 2016 06; 170(6):1525-31. PMID: 27038324.
    Citations:    Translation:Humans
  37. 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: 16     Fields:    Translation:HumansAnimalsCells
  38. 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: 46     Fields:    Translation:HumansCells
  39. 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. . 2015 May; 167A(5):1039-46. PMID: 25663181.
    Citations: 10     Translation:Humans
  40. 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: 11     Fields:    Translation:Humans
  41. 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: 2     
  42. 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. . 2014 Nov; 164A(11):2952-7. PMID: 25124994.
    Citations: 20     Translation:Humans
  43. 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
  44. 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: 20     Fields:    Translation:Humans
  45. 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: 130     Fields:    Translation:HumansCells
  46. 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. . 2011 Jun; 155A(6):1483-6. PMID: 21567920.
    Citations: 2     Translation:HumansCells
  47. 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
  48. 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.