Tayeh MK - Search Results

1

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Tayeh MK, Chin EL, Miller VR, Bean LJ, Coffee B, Hegde M. Tayeh MK, et al. Genet Med. 2009 Apr;11(4):232-40. doi: 10.1097/GIM.0b013e318195e191. Genet Med. 2009. PMID: 19282776 Free article.

2

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).

Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G; ACMG Laboratory Quality Assurance Committee. Del Gaudio D, et al. Among authors: tayeh mk. Genet Med. 2020 Jul;22(7):1133-1141. doi: 10.1038/s41436-020-0782-9. Epub 2020 Apr 16. Genet Med. 2020. PMID: 32296163 Free article. No abstract available.

3

Addendum: Technical standards and guidelines for spinal muscular atrophy testing.

Deignan JL, Astbury C, Behlmann A, Guha S, Monaghan KG, Reddi HV, Seifert BA, Tayeh M, Wakeling E; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Genet Med. 2021 Dec;23(12):2462. doi: 10.1038/s41436-020-00961-6. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046848 Free article. No abstract available.

4

Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Tayeh MK, Gaedigk A, Goetz MP, Klein TE, Lyon E, McMillin GA, Rentas S, Shinawi M, Pratt VM, Scott SA; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Tayeh MK, et al. Genet Med. 2022 Apr;24(4):759-768. doi: 10.1016/j.gim.2021.12.009. Epub 2022 Feb 10. Genet Med. 2022. PMID: 35177334 Free article.

5

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Ferguson PJ, et al. Among authors: tayeh mk. J Med Genet. 2005 Jul;42(7):551-7. doi: 10.1136/jmg.2005.030759. J Med Genet. 2005. PMID: 15994876 Free PMC article.

6

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW. Tayeh MK, et al. Am J Med Genet A. 2022 Jul;188(7):2209-2216. doi: 10.1002/ajmg.a.62752. Epub 2022 Apr 1. Am J Med Genet A. 2022. PMID: 35365979 Free PMC article.

7

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. Ahram D, et al. Am J Hum Genet. 2009 Feb;84(2):274-8. doi: 10.1016/j.ajhg.2009.01.007. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200529 Free PMC article.

8

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Tayeh MK, Rocco T, Ackley T, Ernst L, Glover T, Innis JW. Tayeh MK, et al. Clin Case Rep. 2015 Jun;3(6):396-401. doi: 10.1002/ccr3.241. Epub 2015 Apr 9. Clin Case Rep. 2015. PMID: 26185636 Free PMC article.

9

Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.

Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, Conjeevaram H, Oral EA. Ajluni N, et al. Among authors: tayeh mk. Clin Endocrinol (Oxf). 2017 May;86(5):698-707. doi: 10.1111/cen.13311. Epub 2017 Mar 27. Clin Endocrinol (Oxf). 2017. PMID: 28199729 Free PMC article.

10

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.

Sahinoz M, Khairi S, Cuttitta A, Brady GF, Rupani A, Meral R, Tayeh MK, Thomas P, Riebschleger M, Camelo-Piragua S, Innis JW, Bishr Omary M, Michele DE, Oral EA. Sahinoz M, et al. Among authors: tayeh mk. Clin Diabetes Endocrinol. 2018 Mar 27;4:6. doi: 10.1186/s40842-018-0058-3. eCollection 2018. Clin Diabetes Endocrinol. 2018. PMID: 29610677 Free PMC article.

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