Volodarsky M - Search Results

1

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.

Volodarsky M, Langer Y, Birk OS. Volodarsky M, et al. BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9. BMC Med Genet. 2014. PMID: 25267529 Free PMC article.

2

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS. Volodarsky M, et al. Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358778

3

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: volodarsky m. 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

4

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

5

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: volodarsky m. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

6

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Volodarsky M, Zilberman U, Birk OS. Volodarsky M, et al. Arch Oral Biol. 2015 Jun;60(6):919-22. doi: 10.1016/j.archoralbio.2015.02.018. Epub 2015 Feb 28. Arch Oral Biol. 2015. PMID: 25827751

7

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: volodarsky m. 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.

8

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. Perez Y, et al. Among authors: volodarsky m. Brain. 2017 Apr 1;140(4):928-939. doi: 10.1093/brain/awx013. Brain. 2017. PMID: 28334855 Free PMC article.

9

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

Volodarsky M, Kerkhof J, Stuart A, Levy M, Brady LI, Tarnopolsky M, Lin H, Ainsworth P, Sadikovic B. Volodarsky M, et al. J Med Genet. 2021 Apr;58(4):284-288. doi: 10.1136/jmedgenet-2019-106641. Epub 2020 May 6. J Med Genet. 2021. PMID: 32376792

10

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E, Kerkhof J, Carere DA, Volodarsky M, Bhai P, Colaiacovo S, Saleh M, Caudle M, Karp N, Prasad C, Balci T, Lin H, Campbell C, Siu VM, Sadikovic B. Aref-Eshghi E, et al. Among authors: volodarsky m. J Hum Genet. 2021 May;66(5):451-464. doi: 10.1038/s10038-020-00860-3. Epub 2020 Oct 23. J Hum Genet. 2021. PMID: 33093641

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

30 results

Search Page

Filters