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D

Débora Romeo Bertola

imdea food institute

47H-index
310Paper Count
7.7KCitation Count
Published Papers 53
Publication Date
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International guideline on genetic testing of children with short stature
errEuropean Journal of Endocrinology
IF5.2
err2026-02-01
err4
PREAI
errDauber, Andrew; Jorge, Alexander A. L.; Nilsson, Ola; Dekkers, Olaf M.; Argente, Jesus; Netchine, Irene; Backeljauw, Philippe; Baron, Jeffrey; Bertola, Debora R.; Clayton, Peter; Davies, Justin H.; Edouard, Thomas; Eggermann, Thomas; Gevers, Evelien F.; Grigelioniene, Giedre; Heath, Karen E.; Jee, Youn Hee; Lapunzina, Pablo; Mortier, Geert R.; Pruhova, Stepanka; Storr, Helen L.; Wakeling, Emma; Ferreira, Carlos R.; Hasegawa, Tomonobu; Hokken-Koelega, Anita C. S.; Linglart, Agnes; Luo, Xiaoping; Wang, Xiumin; Hwa, Vivian; Gregory, Louise C.; Buonocore, Federica; Dattani, Mehul T.; Cianfarani, Stefano; Wit, Jan M.
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Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence
errGenetics in Medicine
IF6.2
err2025-12-19
err0
PREAI
errAnna Luiza Braga Albuquerque; Maria Inez Dacoregio; Cainã Gonçalves Rodrigues; Débora Romeo Bertola; Paulo Victor Zattar Ribeiro
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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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Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-11-01
err0
PREAI
errChatterjee, Sumana; Ishida, Miho; Bertola, Debora R.; Agwu, Juliana Chizo; Gaston-Massuet, Carles; McGuffin, Liam J.; Storr, Helen L.; Maharaj, Avinaash, V
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Rare Duplication in the RYR1 Gene Causing Malignant Hyperthermia and Clinical Variability
errGenes 2025, Vol. 16, Page 1252
IF0
err2025-10-24
err0
errOAAI
errBrandow W. Souza; Guilherme L. Yamamoto; Isabela A. Zogbi; Pamela V. Andrade; Joilson M. Santos; Leticia N. Feitosa; Acary S. B. Oliveira; Debora R. Bertola; Soledad Levano; Thierry Girard; Helga C. A. Silva; Mariz Vainzof
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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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Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-10-01
err0
errOAAI
errKim, Gabriela Jeesoo; Malaquias, Alexsandra Christianne; Bertola, Debora Romeo; Rezende, Raissa Carneiro; Cellin, Laurana De Polli; Pires, Lucas Vieira Lacerda; Santillan-Vasconez, Ana Maria; Lerario, Antonio Marcondes; Scalco, Renata da Cunha; Jorge, Alexander Augusto de Lima
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A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
errCURRENT OBESITY REPORTS
IF11
err2024-01-26
err2
PREAI
errCarvalho, Laura Machado Lara; Jorge, Alexander Augusto de Lima; Bertola, Debora Romeo; Krepischi, Ana Cristina Victorino; Rosenberg, Carla
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Rothmund-Thomson syndrome, a disorder far from solved
errFRONTIERS IN AGING
IF4.3
err2023-11-10
err5
errOAAI
errMartins, Davi Jardim; Di Lazzaro Filho, Ricardo; Bertola, Debora Romeo; Hoch, Nicolas Carlos
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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-05-01
err6
errOAAI
errSmallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole
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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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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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errSave
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2022-10-01
err10
errOAAI
errDuan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Kocak; Costa, Silvia R.; Sahin, Yavuz; Ocak, Zeynep; Isikay, Sedat; Ozalp, Ozge; Bozdogan, Sevcan; Aslan, Huseyin; Elcioglu, Nursel; Bertola, Debora R.; Gezdirici, Alper; Du, Haowei; Fatih, Jawid M.; Grochowski, Christopher M.; Akay, Gulsen; Jhangiani, Shalini N.; Karaca, Ender; Gu, Shen; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Bayram, Yavuz; Sutton, V. Reid; Carvalho, Claudia M. B.; Pehlivan, Davut; Gibbs, Richard A.; Lupski, James R.
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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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Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
errFRONTIERS IN CELLULAR NEUROSCIENCE
IF4
err2022-01-13
err3
errOAAI
errMoreira, Danielle de Paula; Suzuki, Angela May; Teles e Silva, Andre Luiz; Varella-Branco, Elisa; Zorel Meneghetti, Maria Cecilia; Kobayashi, Gerson Shigeru; Fogo, Mariana; Ramires Ferrari, Merari de Fatima; Cardoso, Rafaela Regina; Vilaca Lourenco, Naila Cristina; Griesi-Oliveira, Karina; Zachi, Elaine Cristina; Bertola, Debora Romeo; Weinmann, Karina de Souza; de Lima, Marcelo Andrade; Nader, Helena Bonciani; Sertie, Andrea Laurato; Passos-Bueno, Maria Rita
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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-01-12
err8
errOAAI
errCalpena, Eduardo; Wurmser, Maud; McGowan, Simon J.; Atique, Rodrigo; Bertola, Debora R.; Cunningham, Michael L.; Gustafson, Jonas A.; Johnson, David; Morton, Jenny E., V; Passos-Bueno, Maria Rita; Timberlake, Andrew T.; Lifton, Richard P.; Wall, Steven A.; Twigg, Stephen R. F.; Maire, Pascal; Wilkie, Andrew O. M.
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errSave
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-01-01
err47
errOAAI
errLin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; Wit, Jan M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A. L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal M. J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S. L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing; Tartaglia, Marco
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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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Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients
errFRONTIERS IN ONCOLOGY
IF3.3
err2020-05-05
err13
errOAAI
errMarques Aguiar, Talita Ferreira; Rivas, Maria Prates; Costa, Silvia; Maschietto, Mariana; Rodrigues, Tatiane; de Barros, Juliana Sobral; Barbosa, Anne Caroline; Valieris, Renan; Fernandes, Gustavo R.; Bertola, Debora R.; Cypriano, Monica; Caminada de Toledo, Silvia Regina; Major, Angela; Tojal, Israel; de Pinho Apezzato, Maria Lucia; Carraro, Dirce Maria; Rosenberg, Carla; Lima da Costa, Cecilia Maria; Cunha, Isabela W.; Sarabia, Stephen Frederick; Terrada, Dolores-Lopez; Victorino Krepischi, Ana Cristina
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Research Directions

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Co-authors
Cooperation Journals
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Stephen O’Rahilly
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Richard P. Lifton
H-index: 150 · Papers: 571
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