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

Year Number of Results
2002 1
2003 1
2004 2
2005 3
2006 4
2007 4
2008 1
2009 5
2010 1
2011 2
2012 1
2013 2
2014 7
2015 12
2016 6
2017 5
2018 5
2019 10
2020 9
2021 11
2022 14
2023 7
2024 6

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97 results

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Page 1
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: meiner v. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Biallelic variants in PAX3 cause Klein syndrome.
Salah S, Meiner V, Abumayaleh A, Asafra A, Al-Sharif T, Al-Fallah O, Hasasneh B, Zlotogora J. Salah S, et al. Among authors: meiner v. Clin Genet. 2022 Sep;102(3):223-227. doi: 10.1111/cge.14167. Epub 2022 Jun 5. Clin Genet. 2022. PMID: 35607853
Grandparental genotyping enhances exome variant interpretation.
Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T. Daum H, et al. Among authors: meiner v. Am J Med Genet A. 2020 Apr;182(4):689-696. doi: 10.1002/ajmg.a.61511. Epub 2020 Feb 6. Am J Med Genet A. 2020. PMID: 32027463
Exome sequencing for structurally normal fetuses-yields and ethical issues.
Daum H, Harel T, Millo T, Eilat A, Fahham D, Gershon-Naamat S, Basal A, Rosenbluh C, Yanai N, Porat S, Kabiri D, Yagel S, Valsky DV, Elpeleg O, Meiner V, Mor-Shaked H. Daum H, et al. Among authors: meiner v. Eur J Hum Genet. 2023 Feb;31(2):164-168. doi: 10.1038/s41431-022-01169-9. Epub 2022 Sep 7. Eur J Hum Genet. 2023. PMID: 36071243 Free PMC article.
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E. Durst R, et al. Among authors: meiner v. Atherosclerosis. 2017 Feb;257:55-63. doi: 10.1016/j.atherosclerosis.2016.12.021. Epub 2016 Dec 18. Atherosclerosis. 2017. PMID: 28104544 Free article.
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M, Rahat D, Meiner V, Fellig Y, Arad M, Schueler-Furman O, Hu Y, Li Y, Bönnemann CG, Lossos A. Sadeh M, et al. Among authors: meiner v. Neurogenetics. 2021 May;22(2):117-125. doi: 10.1007/s10048-021-00640-x. Epub 2021 Apr 3. Neurogenetics. 2021. PMID: 33811585
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
Cohen-Barak E, Danial-Farran N, Chervinsky E, Alimi-Kasem O, Zagairy F, Livneh I, Mawassi B, Hreish M, Khayat M, Lossos A, Meiner V, Ehilevitch N, Weiss K, Shalev S. Cohen-Barak E, et al. Among authors: meiner v. J Med Genet. 2023 Mar;60(3):233-240. doi: 10.1136/jmedgenet-2022-108508. Epub 2022 Jun 16. J Med Genet. 2023. PMID: 35710109
97 results