| Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines N Hernandez, G Bucciol, L Moens, J Le Pen, M Shahrooei, E Goudouris, ... Journal of Experimental Medicine 216 (9), 2057-2070, 2019 | 155 | 2019 |
| Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy V Béziat, F Rapaport, J Hu, M Titeux, MB des Claustres, M Bourgey, ... Cell 184 (14), 3812-3828. e30, 2021 | 62 | 2021 |
| Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease M Sharma, D Leung, M Momenilandi, LCW Jones, L Pacillo, AE James, ... Journal of Experimental Medicine 220 (5), e20221755, 2023 | 48 | 2023 |
| Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation M Nabavi, M Shahrooei, H Rokni-Zadeh, J Vrancken, M Changi-Ashtiani, ... Journal of clinical immunology 39, 138-141, 2019 | 39 | 2019 |
| Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia G Frans, J van der Werff Ten Bosch, L Moens, R Gijsbers, ... Journal of clinical immunology 37, 801-810, 2017 | 23 | 2017 |
| A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia M Miryounesi, A Nikfar, M Changi‐Ashtiani, M Shahrooei, ... Annals of Human Genetics 84 (1), 102-106, 2020 | 16 | 2020 |
| Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss S Khatami, H Rokni-Zadeh, N Mohsen-Pour, A Biglari, M Changi-Ashtiani, ... Mitochondrion 46, 321-325, 2019 | 15 | 2019 |
| 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 … S Kalayinia, M Maleki, H Rokni‐Zadeh, M Changi‐Ashtiani, H Ahangar, ... Journal of Clinical Laboratory Analysis 33 (7), e22923, 2019 | 6 | 2019 |
| Human inherited CCR2 deficiency underlies progressive polycystic lung disease AL Neehus, B Carey, M Landekic, P Panikulam, G Deutsch, M Ogishi, ... Cell 187 (2), 390-408. e23, 2024 | 5 | 2024 |
| 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 N Mohsenpour, H Roknizadeh, M Maghbooli, M Changi-Ashtiani, ... International Journal of Molecular and Cellular Medicine 8 (3), 169, 2019 | 3 | 2019 |
| The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants M Materna, OM Delmonte, M Bosticardo, M Momenilandi, PE Conrey, ... Science 383 (6686), eadh4059, 2024 | 2 | 2024 |
| Draft genome sequence of Pseudomonas gingeri strain LMG 5327, the causative agent of ginger blotch in Agaricus bisporus T Bahrami, S Zarvandi, R De Mot, H Gross, M Changi-Ashtiani, T Shahani, ... Genome Announcements 6 (13), 10.1128/genomea. 00196-18, 2018 | 2 | 2018 |
| Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases S Ravanbod, M Faranoush, M Changi-Ashtiani, H Rokni-Zadeh, ... Research and Practice in Thrombosis and Haemostasis 7 (1), 100003, 2023 | 1 | 2023 |
| FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice M Momenilandi, R Lévy, S Sobrino, J Li, C Lagresle-Peyrou, ... Cell, 2024 | | 2024 |
| Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases P Sadeghi, GG Esslami, H Rokni-Zadeh, M Changi-Ashtiani, ... BMC pediatrics 22 (1), 667, 2022 | | 2022 |
| A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency T Talebi, A Biglari, M Shahroeei, M Changi-Ashtiani, H Dinmohammadi, ... Iranian Journal of Allergy, Asthma and Immunology, 94-101, 2020 | | 2020 |
| Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome A Aghebati-Maleki, T Shahani, T Momen, S Alyasin, M Changi-Ashtiani, ... Iranian Journal of Allergy Asthma and Immunology 19 (2), 193-199, 2020 | | 2020 |
