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Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Among authors: khalek n. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.
Burrill N, Schindewolf E, Pilchman L, Wright R, Crane H, Gebb J, Khalek N, Soni S, Paidas Teefey C, Oliver ER, Linn R, Moldenhauer JS. Burrill N, et al. Among authors: khalek n. Prenat Diagn. 2025 Jan 1. doi: 10.1002/pd.6735. Online ahead of print. Prenat Diagn. 2025. PMID: 39743338
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Schindewolf E, et al. Among authors: khalek n. Am J Med Genet A. 2018 Aug;176(8):1735-1741. doi: 10.1002/ajmg.a.38665. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055034 Free PMC article.
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