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Alexander A.L. Jorge

universidade de sao paulo

48H-index
360Paper Count
7.2KCitation Count
Published Papers 92
Publication Date
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Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
errNature Communications
IF15.7
err2026-03-30
err0
errOAAI
errIlaria Parenti; Alina Hesters; Marta Gil-Salvador; Laura Duffy; Deniz Kanber; Jasmin Beygo; Jennifer Kerkhof; Laura Steenpaß; Elsa Leitão; Julia Woestefeld; Philip M. Boone; Emeline M. Kao; Lama Alabdi; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Muneera J. Alshammari; Stylianos E. Antonarakis; Donald Basel; Kevin Cassinari; Laurana de Polli Cellin; Amanda R. Clause; Alexander Augusto de Lima Jorge; Andréa de Castro Leal; Stephan C. Collins; Benjamin Durand; Juliane Eckhold; Mais O. Hashem; Parul Jayakar; Arif O. Khan; Kohji Kato; Regina Kubica; Gholson J. Lyon; Elaine Marchi; Julie McCarrier; Lara K. Kimmig; Seiji Mizuno; Gael Nicolas; Yosuke Nishio; Tomoo Ogi; Juan Pié; Jordyn Prell; Beatriz Puisac; Feliciano J. Ramos; Emmanuelle Ranza; Claire Redin; Eric Rush; Shinji Saitoh; Hanan E. Shamseldin; Susan Starling; Esteban Astiazaran-Symonds; Sara H. Eltahir; Alma Kuechler; Bekim Sadikovic; Binnaz Yalcin; Kerstin S. Wendt; Frank J. Kaiser
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Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
errCommunications Medicine
IF6.3
err2025-10-24
err0
errOAAI
errPedro Campos Franco; Augusto Cezar Santomauro Jr; Aline Dantas Costa-Riquetto; Lucas Santos de Santana; Larissa Garcia Gomes; Alexander Augusto de Lima Jorge; Milena Gurgel Teles
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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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Trends In Reported Outcomes for Growth Hormone Therapy In Children With Growth Hormone Deficiency
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-09-01
err0
errOAAI
errTseretopoulou, Xanthippi; Chen, Jiajia; Lucas-Herald, Angela; Charmandari, Evangelia; Choi, Jin-Ho; Dou, Xinyu; Hamza, Rasha; Harvey, Jamie; Hoffman, Andrew R.; Horikawa, Reiko; Johannsson, Gudmundur; de Lima Jorge, Alexander Augusto; Miller, Bradley S.; Pietropoli, Alberto; Savendahl, Lars; Vitali, Diana; Wajnrajch, Michael; Chen, Suet Ching; Gong, Chunxiu; Ahmed, S. Faisal
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CDK4 loss-of-function mutations cause microcephaly and short stature
errGENES & DEVELOPMENT
IF7.7
err2025-04-10
err0
errOAAI
errVerdu Schlie, Aitana; Leitch, Andrea; Arismendi, Maria Izabel; Stok, Colin; Castro Leal, Andrea; Parry, David A.; Lerario, Antonio Marcondes; Harley, Margaret E.; Lucheze, Bruna; Carroll, Paula L.; Musialik, Kamila I.; Auer, Julia M. T.; Martin, Carol-Anne; Gerasimavicius, Lukas; Quigley, Alan J.; Correia-Deur, Joya Emilie de Menezes; Marsh, Joseph A.; Reijns, Martin A. M.; Lampe, Anne K.; Jackson, Andrew P.; Jorge, Alexander A. L.; Tamayo-Orrego, Lukas
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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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Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty
errHORMONE RESEARCH IN PAEDIATRICS
IF2.7
err2024-12-20
err0
PREAI
errPiovesan, Maiara; Macena, Larissa Baracho; Jorge, Alexander de Lima; Lima-Valassi, Helena Panteliou; Canton, Ana Pinheiro Machado; Mendonca, Berenice B.; Latronico, Ana Claudia; Brito, Vinicius Nahime; Montenegro, Luciana Ribeiro
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Clinical Predictors of Good/Poor Response to Growth Hormone Treatment in Children with Idiopathic Short Stature
errHORMONE RESEARCH IN PAEDIATRICS
IF2.7
err2024-11-21
err0
PREAI
errDauber, Andrew; Phillip, Moshe; Ferran, Jean-Marc; Kelepouris, Nicky; Nedjatian, Navid; Olsen, Anne Helene; Jorge, Alexander Augusto de Lima
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Successful Occurrence of Two Separate Pregnancies in a Patient with Congenital Generalized Lipodystrophy Due to Homozygous AGPAT2 Mutations without Recombinant Leptin Therapy
errDIABETES
IF7.5
err2024-06-14
err0
PREAI
errSantomauro, Augusto C., Jr.; Franco, Pedro C.; Costa-Riquetto, Aline D.; Jorge, Alexander A.; Teles, Milena G.
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Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2024-03-30
err0
errOAAI
errCastroneves, Luciana Audi; Mangone, Flavia Regina Rotea; Lerario, Antonio Marcondes; da Cunha Mercante, Ana Maria; Batista, Rafael Loch; Barros, Luciana Rodrigues Carvalho; Ferreira, Carla Vaz; Farias, Evelin Cavalcante; Vanderlei, Felipe Augusto Brasileiro; Maia, Ana Luiza; Nagai, Maria Aparecida; Jorge, Alexander Augusto Lima; Hoff, Ana Oliveira
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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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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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Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-10-04
err1
PREAI
errAkgun-Dogan, Ozlem; Diaz-Gonzalez, Francisca; de Lima Jorge, Alexander Augusto; Onenli-Mungan, Neslihan; Menezes Andrade, Nathalia Liberatoscioli; Cellin, Laurana de Polli; Ceylaner, Serdar; Rosa Modkovski, Maria Barcellos; Alanay, Yasemin; Heath, Karen E.
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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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SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome
errNEUROENDOCRINOLOGY
IF2.8
err2023-02-09
err4
PREAI
errSchnoll, Caroline; Krepischi, Ana Cristina Victorino; Renck, Alessandra Covallero; Amato, Lorena Guimaraes Lima; Kulikowski, Leslie Domenici; Dantas, Naiara Castelo Branco; Costa, Elaine Maria Frade; Mendonca, Berenice Bilharinho; Latronico, Ana Claudia; Jorge, Alexander Augusto de Lima; Silveira, Leticia Ferreira Gontijo
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Clinical and Genetic Characterization of Familial Central Precocious Puberty
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2023-01-06
err11
PREAI
errTinano, Flavia Rezende; Canton, Ana Pinheiro Machado; Montenegro, Luciana R.; de Castro Leal, Andrea; Faria, Aline G.; Seraphim, Carlos E.; Brauner, Raja; Jorge, Alexander A.; Mendonca, Berenice B.; Argente, Jesus; Brito, Vinicius N.; Latronico, Ana Claudia
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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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High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2022-07-05
err12
errOAAI
errCrespo, Raiane P.; Rocha, Thais P.; Montenegro, Luciana R.; Nishi, Mirian Y.; Jorge, Alexander A. L.; Maciel, Gustavo A. R.; Baracat, Edmund; Latronico, Ana Claudia; Mendonca, Berenice B.; Gomes, Larissa G.
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errSave
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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Research Directions

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Co-authors
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