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Page 1
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: butler m. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: butler m. Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. Am J Hum Genet. 2017. PMID: 28061364 Free PMC article. No abstract available.
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM. Tan QK, et al. Among authors: butler mw. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 29970384 Free PMC article.
Vitamin D receptor gene as a candidate gene for Parkinson disease.
Butler MW, Burt A, Edwards TL, Zuchner S, Scott WK, Martin ER, Vance JM, Wang L. Butler MW, et al. Ann Hum Genet. 2011 Mar;75(2):201-10. doi: 10.1111/j.1469-1809.2010.00631.x. Ann Hum Genet. 2011. PMID: 21309754 Free PMC article.
Clinical Practice Approach to Nonalcoholic Fatty Liver Disease by Pediatric Gastroenterologists in the United States.
Shapiro WL, Yu EL, Arin JC, Murray KF, Ali S, Desai NK, Xanthakos SA, Lin HC, Alkhouri N, Abdou R, Abrams SH, Butler MW, Faasse SA, Gillis LA, Hadley TA, Jain AK, Kavan M, Kordy K, Lee P, Panganiban J, Pohl JF, Potter C, Rudolph B, Sundaram SS, Joshi S, Proudfoot JA, Goyal NP, Harlow KE, Newton KP, Schwimmer JB. Shapiro WL, et al. Among authors: butler mw. J Pediatr Gastroenterol Nutr. 2019 Feb;68(2):182-189. doi: 10.1097/MPG.0000000000002194. J Pediatr Gastroenterol Nutr. 2019. PMID: 30640271 Free PMC article.
Bespoke ctDNA for longitudinal detection of molecular residual disease in high-risk melanoma patients.
Genta S, Araujo DV, Hueniken K, Pipinikas C, Ventura R, Rojas P, Jones G, Butler MO, Saibil SD, Yu C, Easson A, Covelli A, Sauder MB, Fournier C, Saeed Kamil Z, Rogalla P, Arteaga DP, Vornicova O, Spiliopoulou P, Muniz TP, Siu LL, Spreafico A. Genta S, et al. Among authors: butler mo. ESMO Open. 2024 Nov 15;9(11):103978. doi: 10.1016/j.esmoop.2024.103978. Online ahead of print. ESMO Open. 2024. PMID: 39549683 Free article.
Unlocking Success: Community Engagement for Enhanced HIV Care Outcomes.
Wiehe SE, Nelson TL, Hawryluk B, Andres UM, Aalsma MC, Rosenman MB, Butler MS, Harris M, Moore K, Scott CD, Gharbi S, Parks L, Lynch D, Silverman RD, Fortenberry JD. Wiehe SE, et al. Among authors: butler ms. Res Sq [Preprint]. 2024 Oct 18:rs.3.rs-4999642. doi: 10.21203/rs.3.rs-4999642/v1. Res Sq. 2024. PMID: 39483889 Free PMC article. Preprint.
Characterizing Nonarticular Pain at Early Rheumatoid Arthritis Diagnosis: Evolution Over the First Year of Treatment and Impact on Remission in a Prospective Real-World Early Rheumatoid Arthritis Cohort.
Meng CF, Lee YC, Schieir O, Valois MF, Butler MA, Boire G, Hazlewood G, Allard-Chamard H, Hitchon C, Bindee K, Tin D, Thorne C, Bessette L, Pope J, Bartlett SJ, Bykerk VP; Canadian Early Arthritis Cohort Investigators. Meng CF, et al. Among authors: butler ma. Arthritis Rheumatol. 2024 Oct 31. doi: 10.1002/art.43049. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 39482804
2,978 results