Below are the most recent publications written about "Pedigree" by people in Profiles.
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Wu ZB, Sui ZY, Peng LH, Ghemrawi M, Duncan G, Jones H, O'Brien SJ, Luo SJ. Forensic assessment of kinship, genomic ancestry, and natural history of an iconic tiger of Harlem, New York City. J Hered. 2025 07 21; 116(4):397-407.
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Raber IM, Khalili A, Khang R, Buch PM, Eagle RC, Seo GH, Lee H, Milman T. Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant. Cornea. 2025 Feb 18; 44(10):1219-1228.
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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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Chen JR, Shah VN, Pritting C, Nooromid M, Abai B, Plestis K. Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome. Vasc Endovascular Surg. 2025 Jan; 59(1):93-96.
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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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Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Invest Ophthalmol Vis Sci. 2024 05 01; 65(5):22.
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Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Hum Genet. 2024 Mar; 143(3):437-453.
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Nanda A, Chang YH, Cheng HC, Lai IT, Al-Lafi A, McGrath JA, Hsu CK. Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in?KRT16. Br J Dermatol. 2024 03 15; 190(4):588-590.
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Munir A, Afsar S, Rehman AU. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. BMC Ophthalmol. 2024 Feb 05; 24(1):55.
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Paredes DI, Bello NR, Capasso JE, Procopio R, Levin AV. Mutations in AGBL5 associated with Retinitis pigmentosa. Ophthalmic Genet. 2024 06; 45(3):275-280.