Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

Morales JA, Valenzuela I, Cuscó I, Cogné B, Isidor B, Matalon DR, Gomez-Ospina N. Am J Med Genet A. 2022;188(5):1396-1406. doi: 10.1002/ajmg.a.62648. PMID: 35018708.

* Nominated for the John M. Opitz Young Investigator Award, American Journal of Medical Genetics Part A.

Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.

ise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM. Am J Med Genet A. 2021;185(6):1848-1853. doi: 10.1002/ajmg.a.62160. PMID: 33683010

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.

Poling MI, Morales Corado JA, Chamberlain RL. Syst Rev. 2017;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711.

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.

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