The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl...

door Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Gepubliceerd in 2013

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

door Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Gepubliceerd in Genet Mol Biol (2018)

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

door Dutra Roberta L, Honjo Rachel S, Kulikowski Leslie D, Fonseca Fernanda M, Pieri Patrícia C, Jehee Fernanda S, Bertola Debora R, Kim Chong A
Gepubliceerd in 2012-01-01

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

door Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Gepubliceerd in 2012

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using...

door D’Angelo, Carla S, Varela, Monica C, de Castro, Cláudia IE, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P
Gepubliceerd in Mol Cytogenet (2014)

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

door Romanelli Tavares, Vanessa L., Kague, Erika, Musso, Camila M., Alegria, Thiago G.P., Freitas, Renato S., Bertola, Debora R., Twigg, Stephen R.F., Passos-Bueno, Maria R.
Gepubliceerd in Mol Syndromol (2019)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

door Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV
Gepubliceerd in Hum Genome Var (2018)

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

door Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Gepubliceerd in Mol Cytogenet (2015)

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

door Carneiro, Thaise NR, Krepischi, Ana CV, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana AM, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla
Gepubliceerd in Appl Clin Genet (2018)

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

door Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., van der Burgt, Ineke, Brunner, Han G., Bertola, Débora R., Crosby, Andrew, Ion, Andra, Kucherlapati, Raju S., Jeffery, Steve, Patton, Michael A., Gelb, Bruce D.
Gepubliceerd in 2002

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

door Yamamoto, Guilherme L., Baratela, Wagner A.R., Almeida, Tatiana F., Lazar, Monize, Afonso, Clara L., Oyamada, Maria K., Suzuki, Lisa, Oliveira, Luiz A.N., Ramos, Ester S., Kim, Chong A., Passos-Bueno, Maria Rita, Bertola, Débora R.
Gepubliceerd in 2014

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

door Miller, Emily E., Kobayashi, Gerson S., Musso, Camila M., Allen, Miranda, Ishiy, Felipe A.A., de Caires, Luiz Carlos, Goulart, Ernesto, Griesi-Oliveira, Karina, Zechi-Ceide, Roseli M., Richieri-Costa, Antonio, Bertola, Debora R., Passos-Bueno, Maria Rita, Silver, Debra L.
Gepubliceerd in Hum Mol Genet (2017)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

door Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora 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
Gepubliceerd in J Med Genet (2022)

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

door Jesus, Adriana A., Osman, Mazen, Silva, Clovis A., Kim, Peter W., Pham, Tuyet-Hang, Gadina, Massimo, Yang, Barbara, Bertola, Débora R., Carneiro-Sampaio, Magda, Ferguson, Polly J., Renshaw, Blair R., Schooley, Ken, Brown, Michael, Al-Dosari, Asma, Al-Alami, Jamil, Sims, John E., Goldbach-Mansky, Raphaela, El-Shanti, Hatem
Gepubliceerd in 2011

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

door Aguiar, Talita Ferreira Marques, Rivas, Maria Prates, Costa, Silvia, Maschietto, Mariana, Rodrigues, Tatiane, Sobral de Barros, Juliana, Barbosa, Anne Caroline, Valieris, Renan, Fernandes, Gustavo R., Bertola, Debora R., Cypriano, Monica, Caminada de Toledo, Silvia Regina, Major, Angela, Tojal, Israel, Apezzato, Maria Lúcia de Pinho, Carraro, Dirce Maria, Rosenberg, Carla, Lima da Costa, Cecilia Maria, Cunha, Isabela W., Sarabia, Stephen Frederick, Terrada, Dolores-López, Krepischi, Ana Cristina Victorino
Gepubliceerd in Front Oncol (2020)

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

door Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Gepubliceerd in 2012

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

door Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian
Gepubliceerd in Am J Hum Genet (2019)

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

door Lin, 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, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, 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
Gepubliceerd in Am J Hum Genet (2021)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

door Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Gepubliceerd in Am J Hum Genet (2018)