Marwan K. Tayeh, Ph.D.
Affiliations: | 2007 | University of Iowa, Iowa City, IA |
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GeneticsGoogle:
"Marwan Tayeh"Mean distance: 23748
Parents
Sign in to add mentorVal C. Sheffield | grad student | 2007 | University of Iowa | |
(Elucidating the molecular pathogenesis of Bardet -Biedl syndrome (BBS) utilizing animal models zebrafish and mouse.) |
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Publications
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Riggs ER, Nelson T, Merz A, et al. (2018) Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Human Mutation |
Hussain I, Patni N, Ueda M, et al. (2017) A Novel Generalized Lipodystrophy-associated Progeroid Syndrome due to recurrent heterozygous LMNA p.T10I Mutation. The Journal of Clinical Endocrinology and Metabolism |
Tayeh MK, Rocco T, Ackley T, et al. (2015) Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay. Clinical Case Reports. 3: 396-401 |
Thorsson T, Russell WW, El-Kashlan N, et al. (2015) Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development. Congenital Heart Disease. 10: 193-208 |
Thomas M, Enciso V, Stratton R, et al. (2012) Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics. Part A. 158: 2534-6 |
Tayeh MK, Chin EL, Miller VR, et al. (2009) Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 232-40 |
Ahram D, Sato TS, Kohilan A, et al. (2009) A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. American Journal of Human Genetics. 84: 274-8 |
Tayeh MK, Yen HJ, Beck JS, et al. (2008) Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Human Molecular Genetics. 17: 1956-67 |
Chiang AP, Beck JS, Yen HJ, et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences of the United States of America. 103: 6287-92 |
Yen HJ, Tayeh MK, Mullins RF, et al. (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human Molecular Genetics. 15: 667-77 |