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

Year Number of Results
1991 2
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1993 4
1994 8
1995 1
1996 3
1997 2
1998 3
1999 1
2001 4
2002 3
2003 1
2004 2
2005 3
2006 6
2007 6
2008 3
2009 5
2010 2
2011 3
2012 1
2013 4
2014 7
2015 14
2016 7
2017 5
2018 6
2019 14
2020 9
2021 12
2022 14
2023 7
2024 12
2025 4

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155 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.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: meiner v. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
Cerebrotendinous xanthomatosis.
Leitersdorf E, Meiner V. Leitersdorf E, et al. Among authors: meiner v. Curr Opin Lipidol. 1994 Apr;5(2):138-42. doi: 10.1097/00041433-199404000-00010. Curr Opin Lipidol. 1994. PMID: 8044416 Review.
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.
Elefant N, Rouni G, Arapatzi C, Oz-Levi D, Sion-Sarid R, Edwards WJ, Ball NJ, Yanovsky-Dagan S, Cowell AR, Meiner V, Vainstein V, Grammenoudi S, Lancet D, Goult BT, Harel T, Kostourou V. Elefant N, et al. Among authors: meiner v. JCI Insight. 2024 Dec 20;9(24):e173664. doi: 10.1172/jci.insight.173664. JCI Insight. 2024. PMID: 39704176 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
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Dori A, Chorin O, Ruhrman-Shahar N, Fellner A, Alon T, Reznik-Wolf H, Barel O, Fourey D, Zadok OIB, Aviv Y, Nikitin V, Ben-David M, Shavit-Stein E, Goldis R, Kaplan B, Shapiro D, Pras E, Pollak A, Meiner V, Arad M, Greenbaum L. Dori A, et al. Among authors: meiner v. Eur J Neurol. 2025 Feb;32(2):e70057. doi: 10.1111/ene.70057. Eur J Neurol. 2025. PMID: 39878313 Free PMC article.
155 results