Below are the most recent publications written about "Homozygote" by people in Profiles.
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Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 03; 107(3):366-368.
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Munir A, Khan IU, Rashid A, Anwar I, Shah S, Oreshkov S, Ullah M, Khan HA, Ullah U, Ahmad A, Ansar M, Rehman AU. A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family. Ophthalmic Genet. 2025 02; 46(1):47-55.
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Walker EC, Javati S, Todd EM, Matlam JP, Lin X, Bryant M, Krone E, Ramani R, Chandra P, Green TP, Anaya EP, Zhou JY, Alexander KA, Tong RS, Yuasi L, Boluarte S, Yang F, Greenberg L, Nerbonne JM, Greenberg MJ, Clemens RA, Philips JA, Wilson LD, Halabi CM, DeBosch BJ, Blyth CC, Druley TE, Kazura JW, Pomat WS, Morley SC. Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease. Nat Immunol. 2024 Dec; 25(12):2247-2258.
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Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA. A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Mol Genet Genomic Med. 2024 Nov; 12(11):e70031.
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Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ?L, Busk ?L, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 11 07; 111(11):2566-2581.
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Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. Am J Hum Genet. 2024 09 05; 111(9):2012-2030.
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Gidding SS, Ballantyne CM, Cuchel M, de Ferranti S, Hudgins L, Jamison A, McGowan MP, Peterson AL, Steiner RD, Uveges MK, Wang Y. It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States. Glob Heart. 2024; 19(1):43.
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Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review. Mol Genet Genomic Med. 2024 Apr; 12(4):e2435.
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Patel DD, Gripp KW, Wadman E, Mishra I, Kandula V. Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review. Am J Med Genet A. 2024 08; 194(8):e63593.
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Brooks IR, Alrokh Y, Kazemizadeh A, Balon K, Newby G, Liu DR, Laczmanski L, McGrath JA, Jack?w-Malinowska J. Highly efficient biallelic correction of homozygous COL7A1 mutation using ABE8e adenine base editor. Br J Dermatol. 2024 03 15; 190(4):583-585.