Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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Nouri Z, Biglari S, Tabatabaiefar MA, Vahidnezhad F, Hozhabrpour A, March ME, Margolis DJ, Gudjonsson JE, Hakonarson H, Vahidnezhad H. Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy. J Invest Dermatol. 2025 Jul; 145(7):1622-1632.
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Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, ?akar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Sch?ls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297.
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Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir S, Arslan Ates E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S, Lin AE, Callewaert B. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. Eur J Hum Genet. 2024 Sep; 32(9):1086-1094.
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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 May 01; 65(5):22.
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Romano F, Haanp?? MK, Pomianowski P, Peraino AR, Pollard JR, Di Feo MF, Traverso M, Severino M, Derchi M, Henzen E, Zara F, Faravelli F, Capra V, Scala M. Expanding the phenotype of UPF3B-related disorder: Case reports and literature review. Am J Med Genet A. 2024 06; 194(6):e63534.
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Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.
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Dubbs H, Ortiz-Gonzalez X, Marsh ED. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. Am J Med Genet A. 2022 09; 188(9):2617-2626.
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Magan T, Hammersmith KM, Viaene AN, Kumar P, Eagle RC, Milman T. Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation. Cornea. 2022 Aug 01; 41(8):1053-1057.
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Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
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Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848.