Birnbaum RY - Search Results

1

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.

Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS. Birnbaum RY, et al. Nat Genet. 2006 Jul;38(7):749-51. doi: 10.1038/ng1813. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751772

2

Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Birnbaum RY, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903. Am J Med Genet A. 2008. PMID: 18348258 No abstract available.

3

Association analysis identifies ZNF750 regulatory variants in psoriasis.

Birnbaum RY, Hayashi G, Cohen I, Poon A, Chen H, Lam ET, Kwok PY, Birk OS, Liao W. Birnbaum RY, et al. BMC Med Genet. 2011 Dec 20;12:167. doi: 10.1186/1471-2350-12-167. BMC Med Genet. 2011. PMID: 22185198 Free PMC article.

4

ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes.

Cohen I, Birnbaum RY, Leibson K, Taube R, Sivan S, Birk OS. Cohen I, et al. Among authors: birnbaum ry. PLoS One. 2012;7(8):e42628. doi: 10.1371/journal.pone.0042628. Epub 2012 Aug 24. PLoS One. 2012. PMID: 22936986 Free PMC article.

5

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. Perez Y, et al. Among authors: birnbaum ry. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545877

6

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. Among authors: birnbaum ry. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.

7

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY. Perez Y, et al. Among authors: birnbaum ry. Brain. 2019 Mar 1;142(3):574-585. doi: 10.1093/brain/awz004. Brain. 2019. PMID: 30715179 Free PMC article.

8

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman JA, Gradstein L, Yogev Y, Hadar N, Freund O, Drabkin M, Halperin D, Irron I, Grajales-Esquivel E, Del Rio-Tsonis K, Birnbaum RY, Akler G, Birk OS. Wormser O, et al. Among authors: birnbaum ry. NPJ Genom Med. 2023 Aug 14;8(1):22. doi: 10.1038/s41525-023-00364-x. NPJ Genom Med. 2023. PMID: 37580330 Free PMC article.

9

Coding exons function as tissue-specific enhancers of nearby genes.

Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N. Birnbaum RY, et al. Genome Res. 2012 Jun;22(6):1059-68. doi: 10.1101/gr.133546.111. Epub 2012 Mar 22. Genome Res. 2012. PMID: 22442009 Free PMC article.

10

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.

Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. Birnbaum RY, et al. PLoS Genet. 2014 Oct 23;10(10):e1004592. doi: 10.1371/journal.pgen.1004592. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340400 Free PMC article.

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