Jaime E Vengoechea (Jaime Vengoechea)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

The American journal of case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Rana Aljaberi, Jaime E Vengoechea
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 (2023)
Oyintayo Ajiboye, Jaime E Vengoechea, Ritu Gupta, Koba Lomashvili
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant. The American journal of case reports 24 (2023)
Aixa Gonzalez, Sunaina Kapur, Matthew Walsh, Jaime E Vengoechea
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes. American journal of medical genetics. Part A 185 (8) (2021)
Jaime E Vengoechea, Janette DiMonda
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant. American journal of medical genetics. Part A 182 (6) (2020)
Laina Lusk, Emily Black, Jaime E Vengoechea
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 57 (2) (2019)
Jaime E Vengoechea
In reply to "Mast Cell Disorders in Ehlers-Danlos Syndrome". American journal of medical genetics. Part A 176 (1) (2017)