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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 11
1999 51
2000 39
2001 70
2002 76
2003 62
2004 65
2005 98
2006 116
2007 110
2008 122
2009 125
2010 133
2011 164
2012 190
2013 231
2014 230
2015 273
2016 311
2017 322
2018 455
2019 530
2020 400
2021 434
2022 333
2023 228
2024 215
2025 236
2026 152
2027 1

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4,537 results

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ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Lee K, Abul-Husn NS, Amendola LM, Brothers KB, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Li M, Ondrasik D, Richards CS, Stergachis A, Stewart DR, Martin CL, Miller DT; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Lee K, et al. Genet Med. 2025 Aug;27(8):101454. doi: 10.1016/j.gim.2025.101454. Epub 2025 Jun 23. Genet Med. 2025. PMID: 40568962 Free PMC article. No abstract available.
Contemplating syndromic autism.
Vorstman JAS, Scherer SW. Vorstman JAS, et al. Genet Med. 2023 Oct;25(10):100919. doi: 10.1016/j.gim.2023.100919. Epub 2023 Jun 15. Genet Med. 2023. PMID: 37330697 Free article. No abstract available.
Return of genetic research results in 21,532 individuals with autism.
Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B; SPARK Consortium; Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Wright JR, et al. Genet Med. 2024 Oct;26(10):101202. doi: 10.1016/j.gim.2024.101202. Epub 2024 Jun 29. Genet Med. 2024. PMID: 38958063 Free article.
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
Tambala D, Vassar R, Snow J, Balestrini S, Bersano A, Guey S, Bonaventura E, Signorini S, Sartori S, Bertini E, Tonduti D, Parazzini C, Macchiaiolo M, Pelizza MF, Pichiecchio A, Massella L, Coste T, Orcesi S, Politano D, Bacci G, Marziali E, Dollfus H, Mandelli A, Chinali M, Plaisier E, Simioni P, Colombatti R, Guerrini R, Tournier-Lasserve E, Gould DB, Musolino PL. Tambala D, et al. Genet Med. 2025 Sep;27(9):101514. doi: 10.1016/j.gim.2025.101514. Epub 2025 Jul 2. Genet Med. 2025. PMID: 40616396 Free article.
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: documents@acmg.net. Smith WE, et al. Genet Med. 2025 Jan;27(1):101289. doi: 10.1016/j.gim.2024.101289. Epub 2024 Dec 4. Genet Med. 2025. PMID: 39630157 Free article.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716 Free PMC article.
4,537 results