Meiner V - Search Results

1

Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.

Daum H, Ganapathi M, Hirsch Y, Griffin EL, LeDuc CA, Hagen J, Yagel S, Meiner V, Chung WK, Mor-Shaked H. Daum H, et al. Among authors: meiner v. Am J Med Genet A. 2022 Jan;188(1):336-342. doi: 10.1002/ajmg.a.62513. Epub 2021 Sep 29. Am J Med Genet A. 2022. PMID: 34585832

2

Genetic screening for Krabbe disease: learning from the past and looking to the future.

Macarov M, Zlotogora J, Meiner V, Khatib Z, Sury V, Mengistu G, Bargal R, Shmueli E, Meidan B, Zeigler M. Macarov M, et al. Among authors: meiner v. Am J Med Genet A. 2011 Mar;155A(3):574-6. doi: 10.1002/ajmg.a.33815. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344630

3

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A. Sheffer R, et al. Among authors: meiner v. Am J Med Genet A. 2016 Jun;170(6):1603-7. doi: 10.1002/ajmg.a.37624. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26992161

4

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Harel T, Hacohen N, Shaag A, Gomori M, Singer A, Elpeleg O, Meiner V. Harel T, et al. Among authors: meiner v. Am J Med Genet A. 2017 Sep;173(9):2539-2544. doi: 10.1002/ajmg.a.38347. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686357

5

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.

Zlotogora J, Patrinos GP, Meiner V. Zlotogora J, et al. Among authors: meiner v. Genet Med. 2018 Aug;20(8):867-871. doi: 10.1038/gim.2017.193. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144512 Free article.

6

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.

Daum H, Lerer I, Frumkin A, Rosenak D, Yanai N, Porat S, Yagel S, Meiner V. Daum H, et al. Among authors: meiner v. Prenat Diagn. 2018 Jan;38(2):135-139. doi: 10.1002/pd.5201. Epub 2018 Jan 19. Prenat Diagn. 2018. PMID: 29327352

7

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M. Lyon GJ, et al. Among authors: meiner v. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31387860 Free PMC article.

8

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C. Kimchi A, et al. Among authors: meiner v. Ophthalmic Genet. 2019 Oct;40(5):443-448. doi: 10.1080/13816810.2019.1681008. Epub 2019 Oct 25. Ophthalmic Genet. 2019. PMID: 31651202

9

Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy.

Daum H, Frumkin A, Meiner V, Werner M, Macarov M, Gillis D, Israel S, Abed El Latif M, Meir K, Gielchinsky Y. Daum H, et al. Among authors: meiner v. Int J Gynaecol Obstet. 2020 Mar;148(3):399-400. doi: 10.1002/ijgo.13022. Epub 2019 Nov 26. Int J Gynaecol Obstet. 2020. PMID: 31671208 No abstract available.

10

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

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