Author

Azadeh Reshadmanesh

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Review Open access Oct 2026

Whole-exome sequencing reveals the molecular diagnoses of pediatric patients presenting with hyperammonemia

Hyperammonemia (HA) is a life-threatening metabolic emergency with diverse genetic etiologies. While classical causes include the urea-cycle and organic acid disorders, the complete mutational spectrum remains incompletely defined. This study aimed to identify the underlying molecular diagnoses in pediatric patients pr...

Reza Hajati, Sharareh Kamfar, Azadeh Reshadmanesh et al. · Discover Genetics and Evolut... · 0 citations

Open access Jan 2026

Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report

Background Serine/threonine kinase 4 (STK4) deficiency is one of the rare causes of combined immunodeficiency (CID). In this study, we report a novel mutation causing STK4 deficiency, which presents with chronic pyelonephritis, an uncommon presentation. Case Presentation A 10‐year‐old female with an incidental mass in...

Hamidreza Ashayeri, Shabnam Eskandarzadeh, Samin Alavi et al. · Case Reports in Immunology · 0 citations

Open access Jan 2026

Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort

In a challenging, ES‐negative ARID cohort, GS provided an additional ~5.3% diagnostic yield by uncovering a noncoding splice alteration and a large intragenic deletion and highlight significant interpretation challenges in noncoding regions.

Ebrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam et al. · Human Mutation · 0 citations