Jaime Vengoechea

7PUBLICATIONS
7CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeonatologyCardiology (incl. cardiovascular diseases)NanomedicineOther history, heritage and archaeology not elsewhere classified
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Publications (7)

|Jan 05, 2026
Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Bogdana Petko, Brent D Weinberg, Jaime Vengoechea

|Nov 22, 2023
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.

Oyintayo Ajiboye, Jaime E Vengoechea, Ritu Gupta

|Nov 14, 2023
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.

Rana Aljaberi, Jaime Vengoechea

|Apr 29, 2021
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.

Aixa Gonzalez, Sunaina Kapur, Matthew Walsh

|Mar 24, 2020
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.

Jaime Vengoechea, Janette DiMonda

|Aug 01, 2019
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.

Laina Lusk, Emily Black, Jaime Vengoechea

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Frequent Collaborators

1 joint publications

Oyintayo Ajiboye

1 joint publications

Aixa Gonzalez

1 joint publications

Rana Aljaberi

1 joint publications

Bogdana Petko