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Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Dianatpour M, et al. Among authors: smith e. Gene. 2021 Apr 30;778:145464. doi: 10.1016/j.gene.2021.145464. Epub 2021 Jan 29. Gene. 2021. PMID: 33524517 Free PMC article.
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Seidelmann SB, et al. Among authors: smith e. Circ Cardiovasc Genet. 2017 Feb;10(1):e001573. doi: 10.1161/CIRCGENETICS.116.001573. Circ Cardiovasc Genet. 2017. PMID: 28087566 Free PMC article.
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Li N, et al. Among authors: smith e. Am J Hum Genet. 2016 Jun 2;98(6):1082-1091. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181681 Free PMC article.
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. Esteghamat F, et al. Among authors: smith e. Nat Genet. 2019 Aug;51(8):1233-1243. doi: 10.1038/s41588-019-0470-3. Epub 2019 Jul 29. Nat Genet. 2019. PMID: 31358993 Free PMC article.
A Case for Inclusion of Genetic Counselors in Cardiac Care.
Arscott P, Caleshu C, Kotzer K, Kreykes S, Kruisselbrink T, Orland K, Rigelsky C, Smith E, Spoonamore K, Larsen Haidle J, Marvin M, Ackerman MJ, Hadi A, Mani A, Ommen S, Cherny S. Arscott P, et al. Among authors: smith e. Cardiol Rev. 2016 Mar-Apr;24(2):49-55. doi: 10.1097/CRD.0000000000000081. Cardiol Rev. 2016. PMID: 26186385 Free PMC article. Review.
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Li N, et al. Among authors: smith e. Am J Hum Genet. 2016 Oct 6;99(4):1000. doi: 10.1016/j.ajhg.2016.09.003. Am J Hum Genet. 2016. PMID: 27716515 Free PMC article. No abstract available.
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