| Year |
Citation |
Score |
| 2018 |
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, ... ... Tayeh MK, et al. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Human Mutation. PMID 30095202 DOI: 10.1002/Humu.23610 |
0.424 |
|
| 2017 |
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis J, Meyer A, et al. A Novel Generalized Lipodystrophy-associated Progeroid Syndrome due to recurrent heterozygous LMNA p.T10I Mutation. The Journal of Clinical Endocrinology and Metabolism. PMID 29267953 DOI: 10.1210/Jc.2017-02078 |
0.441 |
|
| 2015 |
Tayeh MK, Rocco T, Ackley T, Ernst L, Glover T, Innis JW. 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. PMID 26185636 DOI: 10.1002/Ccr3.241 |
0.302 |
|
| 2015 |
Thorsson T, Russell WW, El-Kashlan N, Soemedi R, Levine J, Geisler SB, Ackley T, Tomita-Mitchell A, Rosenfeld JA, Töpf A, Tayeh M, Goodship J, Innis JW, Keavney B, Russell MW. 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. PMID 24720490 DOI: 10.1111/Chd.12179 |
0.454 |
|
| 2012 |
Thomas M, Enciso V, Stratton R, Shah S, Winder T, Tayeh M, Roeder E. Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics. Part A. 158: 2534-6. PMID 22893378 DOI: 10.1002/Ajmg.A.35284 |
0.441 |
|
| 2009 |
Tayeh MK, Chin EL, Miller VR, Bean LJ, Coffee B, Hegde M. 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. PMID 19282776 DOI: 10.1097/Gim.0B013E318195E191 |
0.434 |
|
| 2009 |
Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. American Journal of Human Genetics. 84: 274-8. PMID 19200529 DOI: 10.1016/J.Ajhg.2009.01.007 |
0.456 |
|
| 2008 |
Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, Sheffield VC, Slusarski DC. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Human Molecular Genetics. 17: 1956-67. PMID 18381349 DOI: 10.1093/Hmg/Ddn093 |
0.64 |
|
| 2006 |
Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, et al. 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. PMID 16606853 DOI: 10.1073/Pnas.0600158103 |
0.611 |
|
| 2006 |
Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human Molecular Genetics. 15: 667-77. PMID 16399798 DOI: 10.1093/Hmg/Ddi468 |
0.629 |
|
| 2005 |
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) Journal of Medical Genetics. 42: 551-557. PMID 15994876 DOI: 10.1136/Jmg.2005.030759 |
0.531 |
|
| 2005 |
Majeed HA, El-Khateeb M, El-Shanti H, Abu Rabaiha Z, Tayeh M, Najib D. The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series Seminars in Arthritis and Rheumatism. 34: 813-818. PMID 15942916 DOI: 10.1016/J.Semarthrit.2005.01.010 |
0.422 |
|
| 2005 |
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Human Molecular Genetics. 14: 1109-18. PMID 15772095 DOI: 10.1093/Hmg/Ddi123 |
0.562 |
|
| 2002 |
Al-Alami JR, Tayeh MK, Al-Sheyyab MY, El-Shanti HI. Linkage analysis of a large inbred family with congenital megaloblastic anemia. Saudi Medical Journal. 23: 1251-6. PMID 12436132 |
0.416 |
|
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