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Jorge A L Alexander

26PUBLICATIONS

114CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Infant and child healthNanomedicineCondensed matter characterisation technique developmentAdolescent health

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Publications (26)

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|Mar 30, 2026

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Mar 03, 2026

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

Alexander A L Jorge, Assunta Albanese, Michael Højby

|Oct 25, 2025

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola

|Jul 09, 2025

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Russell Gear, Paul Kalitsis, Melissa Glass

|May 14, 2025

Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.

Aline Guimarães Faria, Luciana R Montenegro, Alexander Augusto Lima Jorge

|Dec 08, 2024

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Eduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto

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Frequent Collaborators

7 joint publications

Berenice Bilharinho Mendonca

5 joint publications

Antônio Marcondes Lerario

4 joint publications

Alexsandra Christianne Malaquias

4 joint publications

Debora Romeo Bertola

2 joint publications

Mariana Ferreira de Assis Funari

2 joint publications

Mirian Y Nishi

2 joint publications

Luciana R Montenegro

2 joint publications

Luciani R S Carvalho

2 joint publications

Nathalia Liberatoscioli Menezes Andrade

2 joint publications

Ivo J P Arnhold

Frequent Collaborators

7 joint publications

Berenice Bilharinho Mendonca

5 joint publications

Antônio Marcondes Lerario

4 joint publications

Alexsandra Christianne Malaquias

4 joint publications

Debora Romeo Bertola

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