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Year Number of Results
2003 1
2005 1
2006 1
2008 2
2009 3
2010 3
2011 5
2012 5
2013 1
2014 2
2015 2
2016 5
2017 2
2019 4
2020 4
2021 8
2022 5
2023 9
2024 3

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52 results

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Page 1
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.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: alkelai a. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
A large meta-analysis identifies genes associated with anterior uveitis.
Gelfman S, Moscati A, Huergo SM, Wang R, Rajagopal V, Parikshak N, Pounraja VK, Chen E, Leblanc M, Hazlewood R, Freudenberg J, Cooper B, Ligocki AJ, Miller CG, Van Zyl T, Weyne J, Romano C, Sagdullaev B, Melander O, Baras A; Regeneron Genetics Center; Stahl EA, Coppola G. Gelfman S, et al. Nat Commun. 2023 Nov 11;14(1):7300. doi: 10.1038/s41467-023-43036-1. Nat Commun. 2023. PMID: 37949852 Free PMC article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
A role for TENM1 mutations in congenital general anosmia.
Alkelai A, Olender T, Haffner-Krausz R, Tsoory MM, Boyko V, Tatarskyy P, Gross-Isseroff R, Milgrom R, Shushan S, Blau I, Cohn E, Beeri R, Levy-Lahad E, Pras E, Lancet D. Alkelai A, et al. Clin Genet. 2016 Sep;90(3):211-9. doi: 10.1111/cge.12782. Epub 2016 May 31. Clin Genet. 2016. PMID: 27040985
Investigation into the genetics of fetal congenital lymphatic anomalies.
Rogerson D, Alkelai A, Giordano J, Pantrangi M, Hsiao MC, Nhan-Chang CL, Motelow JE, Aggarwal V, Goldstein D, Wapner R, Shawber CJ. Rogerson D, et al. Among authors: alkelai a. Prenat Diagn. 2023 Jun;43(6):703-716. doi: 10.1002/pd.6345. Epub 2023 Apr 3. Prenat Diagn. 2023. PMID: 36959127 Free PMC article.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Among authors: alkelai a. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11. Nature. 2023. PMID: 37821707 Free PMC article.
Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene.
Vodo D, Sarig O, Geller S, Ben-Asher E, Olender T, Bochner R, Goldberg I, Nosgorodsky J, Alkelai A, Tatarskyy P, Peled A, Baum S, Barzilai A, Ibrahim SM, Zillikens D, Lancet D, Sprecher E. Vodo D, et al. Among authors: alkelai a. PLoS Genet. 2016 May 5;12(5):e1006008. doi: 10.1371/journal.pgen.1006008. eCollection 2016 May. PLoS Genet. 2016. PMID: 27148741 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.
52 results