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SANDRA DARILEK

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
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    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Obstetrics & Gynecology
    DivisionObstetrics and Gynecology


    Collapse Bibliographic 
    Collapse selected publications
    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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Duarte R, Vossaert L, Darilek SA, Rose C, Schauer E, Parobek C, Bland E, Machol K, Mizerik E, Murali CN. Family Lore, a Variant of Uncertain Significance, and?CADASIL. Am J Med Genet C Semin Med Genet. 2024 Oct 20; e32117. PMID: 39428697.
      Citations:    Fields:    
    2. Adams AD, Ball R, Darilek S. Telegenetics to provide comprehensive prenatal diagnosis. Prenat Diagn. 2024 04; 44(4):492-498. PMID: 38175174.
      Citations:    Fields:    Translation:Humans
    3. Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG, ACMG Board of Directors. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Aug; 25(8):100874. PMID: 37378664.
      Citations: 1     Fields:    
    4. Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG, ACMG Board of Directors. Electronic address: documents@acmg.net. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100336. PMID: 36524989.
      Citations: 12     Fields:    Translation:Humans
    5. Manor J, Dinu D, Azamian MS, Bi W, Darilek S, Lalani SR. A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. Am J Med Genet A. 2021 10; 185(10):2903-2912. PMID: 34061437; PMCID: PMC9082733.
      Citations:    Fields:    Translation:HumansCells
    6. Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N, Tartaglia M. The sixth international RASopathies symposium: Precision medicine-From promise to practice. Am J Med Genet A. 2020 03; 182(3):597-606. PMID: 31825160; PMCID: PMC7021559.
      Citations: 10     Fields:    Translation:HumansCells
    7. 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 03; 179(3):386-396. PMID: 30652412.
      Citations: 6     Fields:    Translation:Humans
    8. 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, Muzny DM, Hanchard N, Belmont JW, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P, Piard J, Van Maldergem L. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. PMID: 30349862; PMCID: PMC6186933.
      Citations: 28     Fields:    
    9. 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 09; 27(5):1238-1247. PMID: 29525932.
      Citations: 2     Fields:    Translation:Humans
    10. Wagner C, Murphy L, Harkenrider J, Darilek S, Soto-Torres E, Stein Q, Hoskovec J. Genesurance Counseling: Patient Perspectives. J Genet Couns. 2018 08; 27(4):814-822. PMID: 29350312.
      Citations: 3     Fields:    Translation:Humans
    11. 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.
      Citations: 1     Fields:    Translation:Humans
    12. 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.
      Citations: 5     Fields:    Translation:Humans
    13. 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, Molecular Autopsy Consortium of Houston (MATCH). The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9. PMID: 27412853; PMCID: PMC5052042.
      Citations: 4     Fields:    Translation:Humans
    14. 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; PMCID: PMC4870448.
      Citations: 6     Fields:    Translation:HumansCells
    15. 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; PMCID: PMC4737634.
      Citations: 1     
    16. 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; PMCID: PMC4442153.
      Citations: 5     Fields:    Translation:HumansCells
    17. 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; PMCID: PMC4449641.
      Citations: 20     
    18. Alford RL, Darilek SA. Basic medical genetics for the otolaryngologist. Adv Otorhinolaryngol. 2011; 70:10-17. PMID: 21358179.
      Citations:    Fields:    Translation:Humans
    19. 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.
      Citations: 13     Fields:    Translation:Humans
    20. 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; PMCID: PMC3665952.
      Citations: 39     Fields:    Translation:Humans
    21. 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; PMCID: PMC3597119.
      Citations: 1     Fields:    Translation:HumansCells
    22. 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.
      Citations: 22     Fields:    Translation:HumansCells
    23. 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; PMCID: PMC3623690.
      Citations: 25     Fields:    Translation:HumansCells
    24. 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.
      Citations: 36     Fields:    Translation:HumansCells
    25. 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.
      Citations: 3     Fields:    Translation:Humans
    26. 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.
      Citations: 18     Fields:    Translation:Humans
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