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Works (6)

Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

American Journal of Medical Genetics Part A
2024-03 | Journal article
DOI: 10.1002/ajmg.a.63475
Contributors: Rana Aljaberi; Jaime Vengoechea
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Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes

American Journal of Medical Genetics Part A
2021-08 | Journal article
DOI: 10.1002/ajmg.a.62233
Contributors: Aixa Gonzalez; Sunaina Kapur; Matthew Walsh; Jaime Vengoechea
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood
2021-01-28 | Journal article
DOI: 10.1182/blood.2020006441
Contributors: Francesco Saettini; Cecilia Poli; Jaime Vengoechea; Sonia Bonanomi; Julio C. Orellana; Grazia Fazio; Fred H. Rodriguez, III; Loreani P. Noguera; Claire Booth; Valentina Jarur-Chamy et al.
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A case of Singleton–Merten syndrome without cardiac involvement harboring a novel IFIH1 variant

American Journal of Medical Genetics Part A
2020-06 | Journal article
DOI: 10.1002/ajmg.a.61556
Contributors: Jaime Vengoechea; Janette DiMonda
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Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome

Journal of Medical Genetics
2020-02-30 | Journal article
DOI: 10.1136/jmedgenet-2018-105782
Contributors: Laina Lusk; Emily Black; Jaime Vengoechea
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In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”

American Journal of Medical Genetics Part A
2018-01 | Journal article
DOI: 10.1002/ajmg.a.38518
Contributors: Jaime Vengoechea
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Peer review (5 reviews for 3 publications/grants)

Review activity for BMJ case reports. (1)
Review activity for Genetics in medicine. (3)
Review activity for World journal of surgical oncology (1)
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