Zarate YA - Search Results

1

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: zarate ya. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.

2

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.

3

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

4

Aortic dilation in pediatric patients.

Zarate YA, Sellars E, Lepard T, Carlo WF, Tang X, Collins RT 2nd. Zarate YA, et al. Eur J Pediatr. 2015 Dec;174(12):1585-92. doi: 10.1007/s00431-015-2575-8. Epub 2015 Jun 13. Eur J Pediatr. 2015. PMID: 26070999

5

Aortic dilation, genetic testing, and associated diagnoses.

Zarate YA, Sellars E, Lepard T, Tang X, Collins RT 2nd. Zarate YA, et al. Genet Med. 2016 Apr;18(4):356-63. doi: 10.1038/gim.2015.88. Epub 2015 Jul 2. Genet Med. 2016. PMID: 26133393 Free article.

6

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Zarate YA, et al. Eur J Hum Genet. 2016 Jul;24(7):1080-3. doi: 10.1038/ejhg.2015.242. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577041 Free PMC article.

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

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.

9

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA. Sellars EA, et al. Among authors: zarate ya. Neuropediatrics. 2017 Apr;48(2):108-110. doi: 10.1055/s-0036-1593984. Epub 2016 Nov 22. Neuropediatrics. 2017. PMID: 27875839

10

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK. Vivero M, et al. Among authors: zarate ya. Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. Clin Genet. 2017. PMID: 28133733 No abstract available.

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