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The usefulness of whole-exome sequencing in routine clinical practice.
Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, Sisson R, Egan C, Chung WK. Iglesias A, et al. Among authors: wilson a. Genet Med. 2014 Dec;16(12):922-31. doi: 10.1038/gim.2014.58. Epub 2014 Jun 5. Genet Med. 2014. PMID: 24901346 Free article.
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K. Tuzovic L, et al. Among authors: wilson a. Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13. Fetal Diagn Ther. 2015. PMID: 25998219
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. Tanaka AJ, et al. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148565 Free PMC article.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK. Bain JM, et al. Among authors: wilson a. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545675 Free PMC article.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: wilson a. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Revah-Politi A, et al. Among authors: wilson al. Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22. Am J Med Genet A. 2017. PMID: 28941020
9,402 results