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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: mcnulty s. 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.
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: mcnulty s. 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.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: mcnulty s. medRxiv [Preprint]. 2024 May 29:2024.05.28.24307502. doi: 10.1101/2024.05.28.24307502. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022 PMID: 38854136 Free PMC article. Updated. Preprint.
Co-mast: Harmonized seed production data for woody plants across US long-term research sites.
Nigro KM, Barton JH, Macias D, Chaudhary VB, Pearse IS, Bell DM, Chen A, Cleavitt NL, Crone EE, Greene DF, Holland EP, Johnstone JF, Koenig WD, Lyon NJ, Miller TEX, Schulze M, Snell RS, Zimmerman JK, Knops JMH, McNulty S, Parmenter RR, Winterstein MA, Zlotin RI, LaMontagne JM, Redmond MD. Nigro KM, et al. Among authors: mcnulty s. Ecology. 2024 Dec 12:e4463. doi: 10.1002/ecy.4463. Online ahead of print. Ecology. 2024. PMID: 39665135
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: mcnulty s. Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022. Epub 2024 Sep 23. Am J Hum Genet. 2024. PMID: 39317201 Free PMC article.
A qualitative exploration of children's lives with rare diseases.
Buckle N, Rogers Y, O'Toole D, McNulty S, Kroll T, Gibbs L, Somanadhan S. Buckle N, et al. Among authors: mcnulty s. Child Care Health Dev. 2024 Jul;50(4):e13294. doi: 10.1111/cch.13294. Child Care Health Dev. 2024. PMID: 38924454
ArCH: improving the performance of clonal hematopoiesis variant calling and interpretation.
Chan ICC, Panchot A, Schmidt E, McNulty S, Wiley BJ, Liu J, Turner K, Moukarzel L, Wong WSW, Tran D, Beeler JS, Batchi-Bouyou AL, Machiela MJ, Karyadi DM, Krajacich BJ, Zhao J, Kruglyak S, Lajoie B, Levy S, Patel M, Kantoff PW, Mason CE, Link DC, Druley TE, Stopsack KH, Bolton KL. Chan ICC, et al. Among authors: mcnulty s. Bioinformatics. 2024 Mar 29;40(4):btae121. doi: 10.1093/bioinformatics/btae121. Bioinformatics. 2024. PMID: 38485690 Free PMC article.
A study to assess the efficacy of enasidenib and risk-adapted addition of azacitidine in newly diagnosed IDH2-mutant AML.
Cai SF, Huang Y, Lance JR, Mao HC, Dunbar AJ, McNulty SN, Druley T, Li Y, Baer MR, Stock W, Kovacsovics T, Blum WG, Schiller GJ, Olin RL, Foran JM, Litzow M, Lin T, Patel P, Foster MC, Boyiadzis M, Collins RH, Chervin J, Shoben A, Vergilio JA, Heerema NA, Rosenberg L, Chen TL, Yocum AO, Druggan F, Marcus S, Stefanos M, Druker BJ, Mims AS, Borate U, Burd A, Byrd JC, Levine RL, Stein EM. Cai SF, et al. Among authors: mcnulty sn. Blood Adv. 2024 Jan 23;8(2):429-440. doi: 10.1182/bloodadvances.2023010563. Blood Adv. 2024. PMID: 37871309 Free PMC article.
339 results