Marek-Yagel D - Search Results

1

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.

2

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.

3

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y. Pode-Shakked B, et al. Eur J Med Genet. 2015 Dec;58(12):685-8. doi: 10.1016/j.ejmg.2015.10.012. Epub 2015 Oct 27. Eur J Med Genet. 2015. PMID: 26518168

4

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.

Oz-Levi D, Weiss B, Lahad A, Greenberger S, Pode-Shakked B, Somech R, Olender T, Tatarsky P, Marek-Yagel D, Pras E, Anikster Y, Lancet D. Oz-Levi D, et al. Clin Genet. 2015 Jun;87(6):602-3. doi: 10.1111/cge.12494. Epub 2014 Oct 21. Clin Genet. 2015. PMID: 25335910 No abstract available.

5

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B. Heimer G, et al. Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28. Clin Genet. 2015. PMID: 26138499

6

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A. Heimer G, et al. Eur J Paediatr Neurol. 2018 Jan;22(1):93-101. doi: 10.1016/j.ejpn.2017.09.004. Epub 2017 Sep 15. Eur J Paediatr Neurol. 2018. PMID: 28967629

7

Clinical disease among patients heterozygous for familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, Pras M, Pras E. Marek-Yagel D, et al. Arthritis Rheum. 2009 Jun;60(6):1862-6. doi: 10.1002/art.24570. Arthritis Rheum. 2009. PMID: 19479871 Free article.

8

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317

9

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Marek-Yagel D, Stenke E, Pode-Shakked B, Dunne C, Crushell E, Bryce-Smith A, McDermott M, O'Sullivan MJ, Veber A, Krishnamurthy M, Wells JM, Anikster Y, Bourke B. Marek-Yagel D, et al. Hum Genet. 2023 May;142(5):691-696. doi: 10.1007/s00439-022-02486-1. Epub 2022 Sep 9. Hum Genet. 2023. PMID: 36076104 Free PMC article.

10

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E. Marek-Yagel D, et al. Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213. Arthritis Care Res (Hoboken). 2010. PMID: 20506103 Free article.

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