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SANDRA A DARILEK

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A. 2019 Mar; 179(3):386-396. PMID: 30652412.
      View in: PubMed
    2. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. PMID: 30349862.
      View in: PubMed
    3. Reese KM, Czerwinski J, Darilek S, Johnson A, Jones M, Singletary CN. Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies. J Genet Couns. 2018 Sep; 27(5):1238-1247. PMID: 29525932.
      View in: PubMed
    4. Wagner C, Murphy L, Harkenrider J, Darilek S, Soto-Torres E, Stein Q, Hoskovec J. Genesurance Counseling: Patient Perspectives. J Genet Couns. 2018 Aug; 27(4):814-822. PMID: 29350312.
      View in: PubMed
    5. Allyse M, Aypar U, Bonhomme N, Darilek S, Dougherty M, Farrell R, Grody W, Highsmith WE, Michie M, Nunes M, Otto L, Pabst R, Palomaki G, Runke C, Sharp RR, Skotko B, Stoll K, Wick M. Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide. J Womens Health (Larchmt). 2017 07; 26(7):755-761. PMID: 28388340.
      View in: PubMed
    6. Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53. PMID: 27550220.
      View in: PubMed
    7. McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA. The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9. PMID: 27412853.
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    8. Kohn TP, Kohn JR, Darilek S, Ramasamy R, Lipshultz L. Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy. J Assist Reprod Genet. 2016 May; 33(5):571-576. PMID: 27020275.
      View in: PubMed
    9. Mayes S, Hashmi S, Turrentine MA, Darilek S, Friel LA, Czerwinski J. Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option. AJP Rep. 2016 Mar; 6(1):e18-24. PMID: 26929864.
      View in: PubMed
    10. Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL. DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. BMJ Open. 2015 May 19; 5(5):e007506. PMID: 25991456.
      View in: PubMed
    11. Westerfield L, Darilek S, van den Veyver IB. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis. J Clin Med. 2014 Sep 12; 3(3):1018-32. PMID: 26237491.
      View in: PubMed
    12. Alford RL, Darilek SA. Basic medical genetics for the otolaryngologist. Adv Otorhinolaryngol. 2011; 70:10-7. PMID: 21358179.
      View in: PubMed
    13. Brandt AC, Tschirgi ML, Ready KJ, Sun C, Darilek S, Hecht J, Arun BK, Lu KH. Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes. Fam Cancer. 2010 Sep; 9(3):479-87. PMID: 20431955.
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    14. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303.
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    15. Tang HY, Basehore MJ, Blakey GL, Darilek S, Oghalai JS, Roa BB, Fang P, Alford RL. Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. Am J Med Genet A. 2008 Apr 01; 146A(7):934-6. PMID: 18324688.
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    16. Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8. PMID: 18197052.
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    17. Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A. 2006 Nov 15; 140(22):2401-15. PMID: 17041943.
      View in: PubMed
    18. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
      View in: PubMed
    19. Cooper ML, Darilek S, Wun WS, Angus SC, Mensing DE, Pursley AN, Dunn RC, Grunert GM, Cheung SW. A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH). Cytogenet Genome Res. 2006; 114(3-4):359-66. PMID: 16954679.
      View in: PubMed
    20. Darilek S, Wicklund C, Novy D, Scott A, Gambello M, Johnston D, Hecht J. Hereditary multiple exostosis and pain. J Pediatr Orthop. 2005 May-Jun; 25(3):369-76. PMID: 15832158.
      View in: PubMed
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