Majid Changi-Ashtiani

发表

Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth

Hassan Rokni-Zadeh, A. Biglari, M. Maghbooli, 2019, International journal of molecular and cellular medicine.

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation

A. Voet, I. Meyts, X. Bossuyt, 2019, Journal of Clinical Immunology.

A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia

M. Miryounesi, Hassan Rokni-Zadeh, M. Shahrooei, 2020, Annals of human genetics.

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases

Payman Sadeghi, Hassan Rokni-Zadeh, Reihaneh Mohsenipour, 2022, BMC Pediatrics.

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Mark M. Davis, J. Casanova, L. Notarangelo, 2021, Cell.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

J. Casanova, S. Seligman, C. Rice, 2019, The Journal of experimental medicine.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, J. Casanova, 2022, medRxiv.

Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.

Hassan Rokni-Zadeh, A. Biglari, M. Shahrooei, 2019, Mitochondrion.

Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases

Hassan Rokni-Zadeh, S. Ravanbod, T. Shahani, 2022, Research and practice in thrombosis and haemostasis.

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.

X. Bossuyt, S. Alyasin, Hassan Rokni-Zadeh, 2020, Iranian journal of allergy, asthma, and immunology.

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

I. Meyts, R. Gijsbers, X. Bossuyt, 2017, Journal of Clinical Immunology.

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease

M. Maleki, N. Mahdieh, Hassan Rokni-Zadeh, 2019, Journal of clinical laboratory analysis.

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation

A. Voet, I. Meyts, X. Bossuyt, 2019, Journal of Clinical Immunology.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, W. Wasserman, 2023, The Journal of experimental medicine.