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Items: 15

1.

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.

Zhang SQ, Fleischer J, Al-Kateb H, Mito Y, Amarillo I, Shinawi M.

Eur J Med Genet. 2019 Aug 15:103736. doi: 10.1016/j.ejmg.2019.103736. [Epub ahead of print]

PMID:
31422286
2.

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA.

J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25.

3.

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

Siller AF, Shimony A, Shinawi M, Amarillo I, Dehner LP, Semenkovich K, Arbeláez AM.

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):88-93. doi: 10.4274/jcrpe.galenos.2018.2018.0005. Epub 2018 May 9.

4.

Acute graft-versus-host disease following lung transplantation in a patient with a novel TERT mutation.

Brestoff JR, Vessoni AT, Brenner KA, Uy GL, DiPersio JF, Blinder M, Witt CA, Byers DE, Hachem RR, Truclock EP, Early DS, Anadkat MJ, Musiek A, Javidan-Nejad C, Balfe DM, Rosman IS, Liu C, Zhang L, Despotis GJ, Ruzinova MB, Sehn JK, Amarillo I, Heusel JW, Swat W, Kim BS, Wartman LD, Yusen RD, Batista LFZ.

Thorax. 2018 May;73(5):489-492. doi: 10.1136/thoraxjnl-2017-211121. Epub 2018 Jan 30.

5.

Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.

Heeley JM, Hollander AS, Austin PF, Merritt DF, Wesevich VG; Washington University School of Medicine in St Louis DSD Team, Amarillo IE.

J Pediatr Urol. 2018 Apr;14(2):153.e1-153.e7. doi: 10.1016/j.jpurol.2017.09.027. Epub 2017 Nov 20.

PMID:
29157626
6.

Mixed Donor Chimerism Following Simultaneous Pancreas-Kidney Transplant.

Rashidi A, Brennan DC, Amarillo IE, Wellen JR, Cashen A.

Exp Clin Transplant. 2018 Jun;16(3):307-313. doi: 10.6002/ect.2016.0299. Epub 2017 Jun 28. Review.

7.

Small copy-number variations involving genes of the FGF pathway in differences in sex development.

Hagan A, Amarillo IE.

Hum Genome Var. 2017 Apr 13;4:17011. doi: 10.1038/hgv.2017.11. eCollection 2017.

8.

Integrated small copy number variations and epigenome maps of disorders of sex development.

Amarillo IE, Nievera I, Hagan A, Huchthagowder V, Heeley J, Hollander A, Koenig J, Austin P, Wang T.

Hum Genome Var. 2016 Jun 9;3:16012. doi: 10.1038/hgv.2016.12. eCollection 2016.

9.

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.

Amarillo IE, O'Connor S, Lee CK, Willing M, Wambach JA.

Am J Med Genet A. 2015 Dec;167A(12):2966-74. doi: 10.1002/ajmg.a.37296. Epub 2015 Aug 19. Review.

PMID:
26768185
10.

BRCA2-associated therapy-related acute myeloid leukemia.

Rashidi A, Amarillo I, Fisher SI.

Med Oncol. 2015 Jan;32(1):371. doi: 10.1007/s12032-014-0371-3. Epub 2014 Nov 27. No abstract available.

PMID:
25428384
11.

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Amarillo IE, Li WL, Li X, Vilain E, Kantarci S.

Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23.

PMID:
24459036
12.

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.

Amarillo IE, Dipple KM, Quintero-Rivera F.

Am J Med Genet A. 2013 May;161A(5):1167-72. doi: 10.1002/ajmg.a.35847. Epub 2013 Mar 26.

PMID:
23532965
13.

Atypical rearrangement involving 3'-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression.

Amarillo I, Bui PH, Kantarci S, Rao N, Shackley BS, García R, Tirado CA.

Mol Cytogenet. 2013 Feb 1;6(1):5. doi: 10.1186/1755-8166-6-5.

14.

Solid tumor cytogenetics: current perspectives.

Nanjangud G, Amarillo I, Rao PN.

Clin Lab Med. 2011 Dec;31(4):785-811, xi. doi: 10.1016/j.cll.2011.07.007. Epub 2011 Oct 21. Review.

PMID:
22118748
15.

Maize centromere mapping: a comparison of physical and genetic strategies.

Okagaki RJ, Jacobs MS, Stec AO, Kynast RG, Buescher E, Rines HW, Vales MI, Riera-Lizarazu O, Schneerman M, Doyle G, Friedman KL, Staub RW, Weber DF, Kamps TL, Amarillo IF, Chase CD, Bass HW, Phillips RL.

J Hered. 2008 Mar-Apr;99(2):85-93. doi: 10.1093/jhered/esm111. Epub 2008 Jan 22.

PMID:
18216028

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