Zarate YA - Search Results

1

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Among authors: zarate ya. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068

2

Phenotypic and microscopic description of a new case of Ermine phenotype.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Jun;149A(6):1253-6. doi: 10.1002/ajmg.a.32815. Am J Med Genet A. 2009. PMID: 19449401

3

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: zarate ya. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923

4

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.

Vengoechea J, Carpenter L, Zárate YA. Vengoechea J, et al. Among authors: zarate ya. Am J Med Genet A. 2014 Jul;164A(7):1857-9. doi: 10.1002/ajmg.a.36515. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700687 No abstract available.

5

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.

Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd. Zarate YA, et al. Am J Med Genet A. 2014 Aug;164A(8):1998-2002. doi: 10.1002/ajmg.a.36601. Epub 2014 May 20. Am J Med Genet A. 2014. PMID: 24844942 Review.

6

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. Zarate YA, et al. Am J Med Genet A. 2015 May;167A(5):1026-32. doi: 10.1002/ajmg.a.36849. Am J Med Genet A. 2015. PMID: 25885067

7

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.

Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH. Zarate YA, et al. Am J Med Genet A. 2016 Jul;170(7):1858-62. doi: 10.1002/ajmg.a.37664. Epub 2016 Apr 19. Am J Med Genet A. 2016. PMID: 27090748

8

First clinical report of an infant with microcephaly and CASC5 mutations.

Zarate YA, Kaylor JA, Bosanko K, Lau S, Vargas J, Gao H. Zarate YA, et al. Am J Med Genet A. 2016 Aug;170(8):2215-8. doi: 10.1002/ajmg.a.37726. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27149178 No abstract available.

9

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. Zarate YA, et al. Am J Med Genet A. 2016 Aug;170(8):1967-73. doi: 10.1002/ajmg.a.37722. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264197 Free PMC article. Review.

10

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Zarate YA, Fish JL. Zarate YA, et al. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774744 Free PMC article. Review.

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