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Page 1
Telephone-Based Rehabilitation Intervention to Optimize Activity Participation After Breast Cancer: A Randomized Clinical Trial.
Lyons KD, Wechsler SB, Ejem DB, Stevens CJ, Azuero A, Khalidi S, Hegel MT, Dos Anjos SM, Codini ME, Chamberlin MD, Morency JL, Coffee-Dunning J, Thorp KE, Cloyd DZ, Goedeken S, Newman R, Muse C, Rocque G, Keene K, Pisu M, Echols J, Bakitas MA. Lyons KD, et al. Among authors: wechsler sb. JAMA Netw Open. 2024 Mar 4;7(3):e242478. doi: 10.1001/jamanetworkopen.2024.2478. JAMA Netw Open. 2024. PMID: 38517442 Free PMC article. Clinical Trial.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: wechsler sb. Am J Med Genet A. 2024 Feb 29:e63559. doi: 10.1002/ajmg.a.63559. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421105 Free article.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. Landis BJ, et al. Among authors: wechsler sb. J Am Heart Assoc. 2023 Sep 19;12(18):e029340. doi: 10.1161/JAHA.123.029340. Epub 2023 Sep 8. J Am Heart Assoc. 2023. PMID: 37681527 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: wechsler sb. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome.
Alam S, Claxton JS, Mortillo M, Sassis L, Kefala-Karli P, Silberbach M, Kochilas L, Wechsler SB. Alam S, et al. Among authors: wechsler sb. J Pediatr. 2021 Dec;239:187-192.e1. doi: 10.1016/j.jpeds.2021.08.034. Epub 2021 Aug 24. J Pediatr. 2021. PMID: 34450123 Free PMC article.
Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
Handisides JC, Hollenbeck-Pringle D, Uzark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Cappella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindauer B, Liou A, Neal MKM, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont MEM, Pyeritz RE, Radojewski EA, Roman MJ, Xu M, Lacro RV; Pediatric Heart Network Investigators. Handisides JC, et al. J Pediatr. 2019 Jan;204:250-255.e1. doi: 10.1016/j.jpeds.2018.08.061. Epub 2018 Sep 27. J Pediatr. 2019. PMID: 30270167 Free PMC article. Clinical Trial.
Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome.
Mah DY, Sleeper LA, Crosson JE, Czosek RJ, Love BA, McCrindle BW, Muiño-Mosquera L, Olson AK, Pilcher TA, Tierney ESS, Shah MJ, Wechsler SB, Young LT, Lacro RV. Mah DY, et al. Among authors: wechsler sb. Am J Cardiol. 2018 Oct 15;122(8):1429-1436. doi: 10.1016/j.amjcard.2018.07.006. Epub 2018 Jul 17. Am J Cardiol. 2018. PMID: 30115424 Free PMC article.
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
Hoskoppal A, Menon S, Trachtenberg F, Burns KM, De Backer J, Gelb BD, Gleason M, James J, Lai WW, Liou A, Mahony L, Olson AK, Pyeritz RE, Sharkey AM, Stylianou M, Wechsler SB, Young L, Levine JC, Tierney ESS, Lacro RV, Bradley TJ; Pediatric Heart Network Investigators. Hoskoppal A, et al. Among authors: wechsler sb. Pediatr Cardiol. 2018 Oct;39(7):1453-1461. doi: 10.1007/s00246-018-1916-6. Epub 2018 Jun 11. Pediatr Cardiol. 2018. PMID: 29948025 Free PMC article. Clinical Trial.
PRKAG2 mutations presenting in infancy.
Torok RD, Austin SL, Phornphutkul C, Rotondo KM, Bali D, Tatum GH, Wechsler SB, Buckley AF, Kishnani PS. Torok RD, et al. Among authors: wechsler sb. J Inherit Metab Dis. 2017 Nov;40(6):823-830. doi: 10.1007/s10545-017-0072-0. Epub 2017 Aug 11. J Inherit Metab Dis. 2017. PMID: 28801758
33 results