Debora Romeo Bertola (Débora Romeo Bertola, Debora R Bertola, Debora Bertola, Débora Bertola, Débora R Bertola, D R Bertola)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 22

Top Topics

Autism Spectrum Disorder

Top Venues

Clinical genetics

American journal of medical genetics. Part A

Arquivos de neuro-psiquiatria

This page only lists publications with an associated author ORCID identifier.

Publications

Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araujo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew L Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics (2023)
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Bianca Linnenkamp, Raissa Girardi, Letícia Alves da Rocha, Guilherme Yamamoto, José Ricardo Ceroni, Antonia Elisabeth Cristhina Mendes, Rachel Honjo, Luiz Antônio Oliveira, Raphael Bruno Amemiya, Caio Robledo D' Angioli Costa Quaio, João Bosco de Oliveira Filho, Chong Ae Kim, Debora Romeo Bertola
Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis. Clinical genetics 101 (4) (2022)
Taccyanna M Ali, Bianca D W Linnenkamp, Guilherme L Yamamoto, Rachel Sayuri Honjo Kawahira, Hamilton Cabral de Menezes Filho, Chong Ae Kim, Debora Romeo Bertola
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. American journal of medical genetics. Part A 188 (5) (2022)
Rachel Sayuri Honjo Kawahira, Matheus Augusto Araujo Castro, Suely Fazio Ferraciolli, Luiz Alberto Valente Soares Junior, Antonio Carlos Pastorino, Debora Romeo Bertola, Noriko Miyake, Naomichi Matsumoto, Chong Ae Kim
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. American journal of medical genetics. Part A 185 (5) (2021)
Lucas Vieira Lacerda Pires, Renata de Almeida Bordim, Maria Beatriz Rabelo Maciel, Ana Cristina Sayuri Tanaka, Guilherme Lopes Yamamoto, Rachel Sayuri Honjo Kawahira, Chong Ae Kim, Debora Romeo Bertola
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. American journal of medical genetics. Part A 185 (10) (2021)
Letícia Alves da Rocha, Lucas Vieira Lacerda Pires, Guilherme Lopes Yamamoto, José Ricardo Magliocco Ceroni, Rachel Sayuri Honjo, Edgard de Novaes França Bisneto, Luiz Antônio Nunes Oliveira, Carla Rosenberg, Ana Cristina Victorino Krepischi, Maria Rita Passos-Bueno, Chong Ae Kim, Debora Romeo Bertola
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical genetics 100 (5) (2021)
Matheus Augusto Araujo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Debora Romeo Bertola, Anna C E Hurst, Lynn P Chorich, Lawrence C Layman, Chong Ae Kim, Hyung-Goo Kim
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome. American journal of medical genetics. Part A 185 (12) (2021)
Lucas Vieira Lacerda Pires, Rogério Lemos Ribeiro, Adriana Modesto de Sousa, Bianca Domit Werner Linnenkamp, Sue Ellen Pontes, Maria Cristina Triguero Veloz Teixeira, Debora Maria Befi-Lopes, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim
Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool. Arquivos de neuro-psiquiatria 79 (11) (2021)
Laura Machado Lara Carvalho, S S da Costa, F Campagnari, A Kaufman, Debora Romeo Bertola, Israel Tojal da Silva, Ana Cristina Victorino Krepischi, C P Koiffmann, Carla Rosenberg
Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of intellectual disability research : JIDR 65 (12) (2021)
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, Keng W Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-Ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Renata M Noronha, Sandra M F Villares, Natalia Torres, Elisangela P S Quedas, Thais Kataoka Homma, Edoarda V A Albuquerque, Michelle B Moraes, Mariana F A Funari, Debora Romeo Bertola, Alexander Augusto de Lima Jorge, Alexsandra Christianne Malaquias
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. American journal of medical genetics. Part A 185 (3) (2020)
Debora Romeo Bertola, Matheus Augusto Araujo Castro, Guilherme L Yamamoto, Rachel S Honjo, José Ricardo Ceroni, Michele M Buscarilli, Amanda B Freitas, Alexsandra C Malaquias, Alexandre C Pereira, Alexander A L Jorge, Maria Rita Passos-Bueno, Chong A Kim
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Debora Romeo Bertola, G Hsia, L Alvizi, A Gardham, E L Wakeling, G L Yamamoto, R S Honjo, L A N Oliveira, R C Di Francesco, B A Perez, C A Kim, M R Passos-Bueno
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. Clinical genetics 93 (4) (2018)
Stefano Paolacci, Debora Romeo Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, Raoul C Hennekam
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. American journal of medical genetics. Part A 173 (7) (2017)
Debora Romeo Bertola, Michelle Buscarilli, Deborah L Stabley, Laura Baker, Daniel Doyle, Dennis W Bartholomew, Katia Sol-Church, Karen W Gripp
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. American journal of medical genetics. Part A 173 (5) (2017)