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Page 1
Response to Widen et al.
Grebe TA, Khushf G, Greally JM, Turley P, Foyouzi N, Rabin-Havt S, Berkman B, Pope K, Vatta M, Kaur S. Grebe TA, et al. Genet Med. 2024 Aug;26(8):101156. doi: 10.1016/j.gim.2024.101156. Epub 2024 Jun 10. Genet Med. 2024. PMID: 38856722 No abstract available.
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.
Van Stechelman P, Wilson B, Grebe TA, Jaffery S, Bauer CS. Van Stechelman P, et al. Among authors: grebe ta. Ann Allergy Asthma Immunol. 2024 Jul;133(1):109-110. doi: 10.1016/j.anai.2024.04.005. Epub 2024 Apr 7. Ann Allergy Asthma Immunol. 2024. PMID: 38588913 No abstract available.
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Grebe TA, Khushf G, Greally JM, Turley P, Foyouzi N, Rabin-Havt S, Berkman BE, Pope K, Vatta M, Kaur S; ACMG Social, Ethical, and Legal Issues Committee. Grebe TA, et al. Genet Med. 2024 Apr;26(4):101052. doi: 10.1016/j.gim.2023.101052. Epub 2024 Feb 23. Genet Med. 2024. PMID: 38393332 No abstract available.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: grebe ta. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Best RG, Khushf G, Rabin-Havt SS, Clayton EW, Grebe TA, Hagenkord J, Topper S, Fivecoat J, Chen M, Grody WW; ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Best RG, et al. Among authors: grebe ta. Genet Med. 2022 Mar;24(3):509-511. doi: 10.1016/j.gim.2021.11.001. Epub 2021 Dec 16. Genet Med. 2022. PMID: 35253644 Free article. No abstract available.
Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Helman G, et al. Among authors: grebe ta. Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27. Genet Med. 2021. PMID: 34446925 Free article.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: grebe ta. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
41 results