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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.
Hum Mutat. 2015.
PMID: 25655089
Free article.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.
Aldinger KA, et al. Among authors: wusik k.
Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.
Am J Hum Genet. 2019.
PMID: 31474318
Free PMC article.
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CT Angiography Findings of Pulmonary Arteriovenous Malformations in Children and Young Adults With Hereditary Hemorrhagic Telangiectasia.
Shin SM, Kim HK, Crotty EJ, Hammill AM, Wusik K, Kim DH.
Shin SM, et al.
AJR Am J Roentgenol. 2020 Jun;214(6):1369-1376. doi: 10.2214/AJR.19.22012. Epub 2020 Apr 7.
AJR Am J Roentgenol. 2020.
PMID: 32255688
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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K.
Valencia CA, et al. Among authors: wusik ka.
Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015.
Front Pediatr. 2015.
PMID: 26284228
Free PMC article.
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