P. N. Torbati

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

A. Köttgen, T. Meitinger, R. Backofen, 2022, Frontiers in Pediatrics.

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

B. Wirth, R. Boostani, R. Maroofian, 2020, Neuromuscular Disorders.

Circulating exosomal miRNAs in cardiovascular disease pathogenesis: New emerging hopes

R. Ebrahimi, Alireza Bahiraee, A. Pasdar, 2019, Journal of cellular physiology.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study

E. G. Karimiani, N. Ahangari, Majid Ghayour Mobarhan, 2020, Molecular genetics & genomic medicine.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.