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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.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: wechsler sb. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK. Steinfeld H, et al. Among authors: wechsler sb. Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22. Neurogenetics. 2016. PMID: 27003583 Free PMC article.
Adult surgical experience with Loeys-Dietz syndrome.
Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC. Williams JA, et al. Among authors: wechsler sb. Ann Thorac Surg. 2015 Apr;99(4):1275-81. doi: 10.1016/j.athoracsur.2014.11.021. Epub 2015 Feb 10. Ann Thorac Surg. 2015. PMID: 25678502
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.
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Louie RJ, et al. Among authors: wechsler sb. Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28317311 Free PMC article.
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
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.
33 results