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R

Raíssa Rezende

Children's National Health System

6H-index
26Paper Count
78Citation Count
Published Papers 7
Publication Date
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Genetic testing in Mild Growth Hormone Deficiency
errEuropean Journal of Endocrinology
IF5.2
err2026-03-01
err0
PREAI
errDauber, Andrew; Jorge, Alexander A. L.; Dattani, Mehul T.; Cianfarani, Stefano; Wit, Jan M.
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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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Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2025-04-01
err1
PREAI
errRezende, Raissa C.; He, Wen; Kaisinger, Lena R.; Lerario, Antonio M.; Schafer, Evan C.; Kentistou, Katherine A.; Barroso, Priscila S.; Andrade, Nathalia L. M.; Dantas, Naiara C. B.; Costa, Elaine Maria F.; Cellin, Laurana P.; Quedas, Elisangela; Seminara, Stephanie B.; Rey, Rodolfo A.; Grinspon, Romina P.; Meriq, Veronica; Ong, Ken K.; Latronico, Ana Claudia; Perry, John R. B.; Howard, Sasha R.; Chan, Yee-Ming; Jorge, Alexander A. L.
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders
errJOURNAL OF PEDIATRICS
IF3.5
err2024-02-01
err1
PREAI
errRezende, Raissa Carneiro; de Andrade, Nathalia Liberatoscioli Menezes; Dantas, Naiara Castelo Branco; Cellin, Laurana de Polli; Krepischi, Ana Cristina Victorino; Lerario, Antonio Marcondes; Jorge, Alexander Augusto de Lima
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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2023-09-11
err1
PREAI
errDantas, Naiara C. B.; Funari, Mariana F. A.; Lerario, Antonio M.; Andrade, Nathalia L. M.; Rezende, Raissa C.; Cellin, Laurana P.; Alves, Cresio; Crisostomo, Lindiane G.; Arnhold, Ivo J. P.; Mendonca, Berenice; Scalco, Renata C.; Jorge, Alexander A. L.
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errSave
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2023-06-20
err7
errOAAI
errDuckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
S
Stephen O’Rahilly
H-index: 154 · Papers: 742
J
Joel N. Hirschhorn
H-index: 145 · Papers: 590
J
James R. Lupski
H-index: 144 · Papers: 1.1K
N
Nicholas J. Timpson
H-index: 140 · Papers: 896
K
Ken K. Ong
H-index: 125 · Papers: 648
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