Gumus E - Search Results

1

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.

Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. Among authors: gumus e. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.

2

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

Gumus E. Gumus E. Ophthalmic Genet. 2018 Jun;39(3):391-395. doi: 10.1080/13816810.2018.1432065. Epub 2018 Feb 8. Ophthalmic Genet. 2018. PMID: 29419336

3

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.

Gumus E. Gumus E. Eur J Med Genet. 2020 Jan;63(1):103637. doi: 10.1016/j.ejmg.2019.03.001. Epub 2019 Mar 8. Eur J Med Genet. 2020. PMID: 30858058

4

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

Yüksel Z, Yazol M, Gümüş E. Yüksel Z, et al. Among authors: gumus e. Am J Med Genet A. 2019 Aug;179(8):1603-1608. doi: 10.1002/ajmg.a.61210. Epub 2019 May 27. Am J Med Genet A. 2019. PMID: 31134736

5

Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.

Gumus E, Tuncez E, Oz O, Saka Guvenc M. Gumus E, et al. Ann Hum Genet. 2021 Jan;85(1):27-36. doi: 10.1111/ahg.12401. Epub 2020 Jul 20. Ann Hum Genet. 2021. PMID: 32686083

6

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.

Ahn LY, Coatti GC, Liu J, Gumus E, Schaffer AE, Miranda HC. Ahn LY, et al. Among authors: gumus e. J Neurosci Res. 2021 Jan;99(1):110-123. doi: 10.1002/jnr.24747. Epub 2020 Nov 3. J Neurosci Res. 2021. PMID: 33141462 Free PMC article.

7

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration.

LaForce GR, Farr JS, Liu J, Akesson C, Gumus E, Pinkard O, Miranda HC, Johnson K, Sweet TJ, Ji P, Lin A, Coller J, Philippidou P, Wagner EJ, Schaffer AE. LaForce GR, et al. Among authors: gumus e. Neuron. 2022 Apr 20;110(8):1340-1357.e7. doi: 10.1016/j.neuron.2022.01.018. Epub 2022 Feb 8. Neuron. 2022. PMID: 35139363 Free PMC article.

8

Apolipoprotein E allelic variants and cerebral palsy.

Gümüş E, Aras BD, Çilingir O, Yarar C, Çarman KB, Laçiner-Gürlevik S, Koçak O, Artan S. Gümüş E, et al. Turk J Pediatr. 2018;60(4):361-371. doi: 10.24953/turkjped.2018.04.002. Turk J Pediatr. 2018. PMID: 30859759 Free article.

Gumus E, Aras BD, Cilingir O, Yarar C, Carman KB, Laciner-Gurlevik S, Kocak O, Artan S. Apolipoprotein E allelic variants and cerebral palsy. Turk J Pediatr 2018; 60: 361-371. ...

Gumus E, Aras BD, Cilingir O, Yarar C, Carman KB, Laciner-Gurlevik S, Kocak O, Artan S. Apolipoprotein E allelic varian …

9

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases.

Gumus E. Gumus E. J Pediatr Genet. 2019 Sep;8(3):168-171. doi: 10.1055/s-0039-1685171. Epub 2019 Apr 1. J Pediatr Genet. 2019. PMID: 31406626 Free PMC article.

10

A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay.

Gumus E. Gumus E. Cell J. 2020 Apr;22(1):128-132. doi: 10.22074/cellj.2020.6606. Epub 2019 Sep 8. Cell J. 2020. PMID: 31606977 Free PMC article.

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