AMIR HOSSEIN SAEIDIAN to Homozygote
This is a "connection" page, showing publications AMIR HOSSEIN SAEIDIAN has written about Homozygote.
Connection Strength
1.461
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Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for?Diagnosis of Monogenic Disorders. J Invest Dermatol. 2020 06; 140(6):1117-1126.e1.
Score: 0.592
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Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI Insight. 2022 04 22; 7(8).
Score: 0.169
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Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 11; 7(11):e975.
Score: 0.141
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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 10; 39(10):1349-1354.
Score: 0.130
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Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 Mar; 107(3):366-368.
Score: 0.051
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Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance. JAMA Dermatol. 2021 Dec 01; 157(12):1466-1471.
Score: 0.041
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Humans with inherited T?cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 07 08; 184(14):3812-3828.e30.
Score: 0.040
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Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Sci Rep. 2020 12 10; 10(1):21622.
Score: 0.038
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Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). J Clin Immunol. 2020 05; 40(4):637-642.
Score: 0.036
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Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. Clin Infect Dis. 2019 05 17; 68(11):1938-1941.
Score: 0.034
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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019 03; 40(3):288-298.
Score: 0.034
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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 deficiency. Matrix Biol. 2019 08; 81:91-106.
Score: 0.033
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Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Dermatol. 2019 10; 28(10):1118-1121.
Score: 0.032
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Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br J Dermatol. 2018 03; 178(3):e219-e221.
Score: 0.031
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2017 03; 137(3):678-685.
Score: 0.029
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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. J Invest Dermatol. 2017 03; 137(3):660-669.
Score: 0.029