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Page 1
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: clause ar. Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. Epub 2024 Aug 30. Ann Clin Transl Neurol. 2024. PMID: 39215466 Free PMC article.
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C. Mori M, et al. Among authors: clause ar. JPGN Rep. 2022 Oct 20;3(4):e258. doi: 10.1097/PG9.0000000000000258. eCollection 2022 Nov. JPGN Rep. 2022. PMID: 37168481 Free PMC article.
Mondo: Integrating Disease Terminology Across Communities.
Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-St… See abstract for full author list ➔ Vasilevsky NA, et al. Among authors: clause ar. Genetics. 2025 Oct 6:iyaf215. doi: 10.1093/genetics/iyaf215. Online ahead of print. Genetics. 2025. PMID: 41052288
Caudal autotomy and regeneration in lizards.
Clause AR, Capaldi EA. Clause AR, et al. J Exp Zool A Comp Exp Biol. 2006 Dec 1;305(12):965-73. doi: 10.1002/jez.a.346. J Exp Zool A Comp Exp Biol. 2006. PMID: 17068798 Review.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Riggs ER, et al. Among authors: clause ar. Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26. Genet Med. 2022. PMID: 35616647 Free PMC article.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Della Ripa Rodrigues Assis B, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Strom SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering KC, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: clause ar. Genet Med Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. eCollection 2025. Genet Med Open. 2025. PMID: 40496713 Free PMC article.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: clause ar. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. Update in: Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. PMID: 38765987 Free PMC article. Updated. Preprint.
16 results