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Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Monga I, Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM. Erjavec SO, et al. Among authors: alkelai a. Nat Commun. 2022 Feb 10;13(1):800. doi: 10.1038/s41467-022-28343-3. Nat Commun. 2022. PMID: 35145093 Free PMC article.
New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach.
Alkelai A, Greenbaum L, Heinzen EL, Baugh EH, Teitelbaum A, Zhu X, Strous RD, Tatarskyy P, Zai CC, Tiwari AK, Tampakeras M, Freeman N, Müller DJ, Voineskos AN, Lieberman JA, Delaney SL, Meltzer HY, Remington G, Kennedy JL, Pulver AE, Peabody EP, Levy DL, Lerer B. Alkelai A, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2019 Aug 30;94:109659. doi: 10.1016/j.pnpbp.2019.109659. Epub 2019 May 30. Prog Neuropsychopharmacol Biol Psychiatry. 2019. PMID: 31153890
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Alkelai A, Greenbaum L, Docherty AR, Shabalin AA, Povysil G, Malakar A, Hughes D, Delaney SL, Peabody EP, McNamara J, Gelfman S, Baugh EH, Zoghbi AW, Harms MB, Hwang HS, Grossman-Jonish A, Aggarwal V, Heinzen EL, Jobanputra V, Pulver AE, Lerer B, Goldstein DB. Alkelai A, et al. Mol Psychiatry. 2022 Mar;27(3):1435-1447. doi: 10.1038/s41380-021-01383-9. Epub 2021 Nov 19. Mol Psychiatry. 2022. PMID: 34799694
High-impact rare genetic variants in severe schizophrenia.
Zoghbi AW, Dhindsa RS, Goldberg TE, Mehralizade A, Motelow JE, Wang X, Alkelai A, Harms MB, Lieberman JA, Markx S, Goldstein DB. Zoghbi AW, et al. Among authors: alkelai a. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2112560118. doi: 10.1073/pnas.2112560118. Proc Natl Acad Sci U S A. 2021. PMID: 34903660 Free PMC article.
Next-generation sequencing of patients with congenital anosmia.
Alkelai A, Olender T, Dode C, Shushan S, Tatarskyy P, Furman-Haran E, Boyko V, Gross-Isseroff R, Halvorsen M, Greenbaum L, Milgrom R, Yamada K, Haneishi A, Blau I, Lancet D. Alkelai A, et al. Eur J Hum Genet. 2017 Dec;25(12):1377-1387. doi: 10.1038/s41431-017-0014-1. Epub 2017 Nov 13. Eur J Hum Genet. 2017. PMID: 29255181 Free PMC article.
Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Among authors: alkelai a. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Among authors: alkelai a. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC article.
52 results