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R

Rachel Sayuri Honjo

faculdade de medicina

21H-index
101Paper Count
1.5KCitation Count
Published Papers 18
Publication Date
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Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
errJournal of Human Genetics
IF2.5
err2025-11-10
err0
PREAI
errYuta Inoue; Naomi Tsuchida; Chong Ae Kim; Bruno de Oliveira Stephan; Matheus Augusto Araujo Castro; Rachel Sayuri Honjo; Debora Romeo Bertola; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy
errLIFE SCIENCE ALLIANCE
IF2.9
err2023-06-07
err10
errOAAI
errOhori, Sachiko; Miyauchi, Akihiko; Osaka, Hitoshi; Lourenco, Charles Marques; Arakaki, Naohiro; Sengoku, Toru; Ogata, Kazuhiro; Honjo, Rachel Sayuri; Kim, Chong Ae; Mitsuhashi, Satomi; Frith, Martin C.; Seyama, Rie; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Saito, Kuniaki; Mizuguchi, Takeshi; Fujita, Atsushi; Matsumoto, Naomichi
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-04-13
err5
PREAI
errDi Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J.; Rocha, Leticia A.; Linnenkamp, Bianca D. W.; Castro, Matheus Augusto Araujo; Bartholdi, Deborah; Schaller, Andre; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y.; Steiner, Carlos E.; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphael; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; Hoch, Nicolas C.; Bertola, Debora Romeo
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Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
errJOURNAL OF PEDIATRICS
IF3.5
err2023-01-01
err2
PREAI
errMontenegro, Marilia Moreira; Camilotti, Debora; Quaio, Caio Robledo D'Anglioli Costa; Gasparini, Yanca; Zanardo, Evelin Aline; Rangel-Santos, Andreia; Novo-Filho, Gil Monteiro; Francisco, Gleyson; Liro, Lucas; Nascimento, Amom; Chehimi, Samar Nasser; Soares, Diogo Cordeiro Queiroz; Krepischi, Ana C. V.; Grassi, Marcilia Sierro; Honjo, Rachel Sayuri; Palmeira, Patricia; Kim, Chong Ae; Carneiro-Sampaio, Magda Maria Sales; Rosenberg, Carla; Kulikowski, Leslie Domenici
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
errJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
err2022-12-11
err4
PREAI
errTolezano, Giovanna Cantini; Bastos, Giovanna Civitate; da Costa, Silvia Souza; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Passos-Bueno, Maria Rita; Koiffmann, Celia Priszkulnik; Kim, Chong Ae; Vianna-Morgante, Angela Maria; Jorge, Alexander Augusto de Lima; Bertola, Debora Romeo; Rosenberg, Carla; Krepischi, Ana Cristina Victorino
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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
errGENOMICS
IF3
err2022-09-01
err3
errOAAI
errSeyama, Rie; Uchiyama, Yuri; Ceroni, Jose Ricard Magliocco; Kim, Veronica Eun Hue; Furquim, Isabel; Honjo, Rachel Sayuri; Castro, Matheus Augusto Araujo; Pires, Lucas Vieira Lacerda; Aoi, Hiromi; Iwama, Kazuhiro; Hamanaka, Kohei; Fujita, Atsushi; Tsuchida, Naomi; Koshimizu, Eriko; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Makino, Shintaro; Itakura, Atsuo; Bertola, Debora R.; Kim, Chong Ae; Matsumoto, Naomichi
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
errHUMAN MUTATION
IF3.7
err2022-05-10
err11
errOAAI
errLima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F.
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2022-01-01
err26
errOAAI
errZhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; de Lima, Ariadne Ramalho; Ferreira, Barbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Odone Filho, Vicente; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B.
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Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
errHUMAN REPRODUCTION
IF6.1
err2020-12-12
err20
errOAAI
errMachado Canton, Ana Pinheiro; Victorino Krepischi, Ana Cristina; Montenegro, Luciana Ribeiro; Costa, Silvia; Rosenberg, Carla; Steunou, Virginie; Sobrier, Marie-Laure; Santana, Lucas; Honjo, Rachel Sayuri; Kim, Chong Ae; de Zegher, Francis; Idkowiak, Jan; Gilligan, Lorna C.; Arlt, Wiebke; de Assis Funari, Mariana Ferreira; de Lima Jorge, Alexander Augusto; Mendonca, Berenice Bilharinho; Netchine, Irene; Brito, Vinicius Nahime; Latronico, Ana Claudia
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Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses
errHUMAN MUTATION
IF3.7
err2020-11-11
err26
errOAAI
errUchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Takayoshi; Takahashi, Yukitoshi; Tanda, Koichi; Hyodo, Yuki; Honjo, Rachel S.; Bertola, Debora Romeo; Kim, Chong Ae; Goto, Masahide; Okazaki, Tetsuya; Yamada, Hiroyuki; Maegaki, Yoshihiro; Osaka, Hitoshi; Ngu, Lock-Hock; Siew, Ch'ng G.; Teik, Keng W.; Akasaka, Manami; Doi, Hiroshi; Tanaka, Fumiaki; Goto, Tomohide; Guo, Long; Ikegawa, Shiro; Haginoya, Kazuhiro; Haniffa, Muzhirah; Hiraishi, Nozomi; Hiraki, Yoko; Ikemoto, Satoru; Daida, Atsuro; Hamano, Shin-ichiro; Miura, Masaki; Ishiyama, Akihiko; Kawano, Osamu; Kondo, Akane; Matsumoto, Hiroshi; Okamoto, Nobuhiko; Okanishi, Tohru; Oyoshi, Yukimi; Takeshita, Eri; Suzuki, Toshifumi; Ogawa, Yoshiyuki; Handa, Hiroshi; Miyazono, Yayoi; Koshimizu, Eriko; Fujita, Atsushi; Takata, Atsushi; Miyake, Noriko; Mizuguchi, Takeshi; Matsumoto, Naomichi
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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2019-10-01
err44
errOAAI
errMoosa, Shahida; Yamamoto, Guilherme L.; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sergio B.; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S.; Kim, Chong Ae; de Menezes, Hamilton Cabral; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval, Jr.; Bezerra Carniero, Tulio Canella; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Goekhan; Reintjes, Nadine; Altmueller, Janine; Nuernberg, Peter; Cavalcanti, Denise P.; Zabel, Bernhard; Warman, Matthew L.; Bertola, Debora R.; Wollnik, Bernd; Netzer, Christian
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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2019-05-01
err101
errOAAI
errGuo, Long; Bertola, Debora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; da Silva Franco, Jose Francisco; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J.; Lajoie, Bryan; Knight, Melanie A.; Fischbeck, Kenneth H.; Singleton, Andrew B.; Ferreira, Carlos R.; Wang, Zheng; Yan, Li; Garbern, James Y.; Simsek-Kiper, Pelin O.; Ohashi, Hirofumi; Robey, Pamela G.; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Juergen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; dos Santos Passos-Bueno, Maria Rita; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro
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A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
errSCIENTIFIC REPORTS
IF3.9
err2018-09-06
err1
errOAAI
errCeroni, J. R. M.; Dutra, R. L.; Honjo, R. S.; Llerena, J. C., Jr.; Acosta, A. X.; Medeiros, P. F. V.; Galera, M. F.; Zanardo, E. A.; Piazzon, F. B.; Dias, A. T.; Novo-Filho, G. M.; Montenegro, M. M.; Madia, F. A. R.; Bertola, D. R.; de Melo, J. B.; Kulikowski, L. D.; Kim, C. A.
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Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries
errINTERNATIONAL JOURNAL OF DERMATOLOGY
IF3.2
err2015-03-16
err2
PREAI
errKelmann, Samantha Vernaschi; D'Angioli Costa Quaio, Caio Robledo; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Rosa Neto, Nilton Salles; Lourenco, Charles Marques; d'Almeida, Vania; Lellis, Rute Facchini; Rivitti-Machado, Maria Cecilia; Simoes e Silva Enokihara, Milvia Maria; Michalany, Nilceo S.; Kim, Chong Ae
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Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty
errJOURNAL OF GENETICS AND GENOMICS
IF7.1
err2012-10-01
err11
PREAI
errHonjo, Rachel Sayuri; Dutra, Roberta Lelis; Nunes, Michele Moreira; Gomy, Israel; Kulikowski, Leslie Domenici; Jehee, Fernanda Sarquis; Kim, Chong Ae
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Angiokeratoma: a cutaneous marker of Fabry's disease
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2009-10-19
err7
PREAI
errAlbano, L. M. J.; Rivitti, C.; Bertola, D. R.; Honjo, R. S.; Kelmann, S. V.; Giugliani, R.; Kim, C. A.
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CYLD mutations in familial skin appendage tumours
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2008-01-04
err72
PREAI
errSaggar, S.; Chernoff, K. A.; Lodha, S.; Horev, L.; Kohl, S.; Honjo, R. S.; Brandt, H. R. C.; Hartmann, K.; Celebi, J. T.
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Research Directions

No research directions
Co-authors
Cooperation Journals
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Richard A. Gibbs
H-index: 190 · Papers: 1.3K
D
Donna M. Muzny
H-index: 156 · Papers: 693
J
James R. Lupski
H-index: 144 · Papers: 1.1K
A
Andrew Singleton
H-index: 131 · Papers: 799
P
Peter Nürnberg
H-index: 127 · Papers: 755
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