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HGG Advances|January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfectaThao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
Journal of Inherited Metabolic Disease|August 31, 2018
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous populationTina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
JCI Insight|March 22, 2022
Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesionsAmir Hossein Saeidian, Leila Youssefian, Charles Y Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2015
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortGuney Bademci, Joseph Foster, Nejat Mahdieh, et al.
European Journal of Epidemiology|May 11, 2023
Cohort profile update: Tehran cardiometabolic genetic studyMaryam S Daneshpour, Mahdi Akbarzadeh, Hossein Lanjanian, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
The Journal of Experimental Medicine|August 3, 2018
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomavirusesSarah Jill de Jong, Amandine Créquer, Irina Matos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
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