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Eden Haverfield

AddressChicago IL 60637
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    Collapse Bibliographic 
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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. Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)". Genet Med. 2019 12; 21(12):2836-2837. PMID: 31239557.
      View in: PubMed
    2. Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine. Genet Med. 2019 05; 21(5):1250-1251. PMID: 30245515.
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    3. Couser NL, Keelean-Fuller D, Davenport ML, Haverfield E, Masood MM, Henin M, Aylsworth AS. Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. . 2018 09; 176(9):2024-2027. PMID: 30240112.
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    4. Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genet Med. 2018 03; 20(3):351-359. PMID: 29300372.
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    5. Garcia J, Tahiliani J, Johnson NM, Aguilar S, Beltran D, Daly A, Decker E, Haverfield E, Herrera B, Murillo L, Nykamp K, Topper S. Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity. Front Cardiovasc Med. 2016; 3:20. PMID: 27446933.
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    6. Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. . 2016 07; 170(7):1791-8. PMID: 27133397.
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    7. Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K. FTO variant associated with malformation syndrome. . 2016 Apr; 170A(4):1023-8. PMID: 26697951.
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    8. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 07; 18(7):696-704. PMID: 26633542.
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    9. Arora S, Haverfield E, Richard G, Haga SB, Mills R. Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. J Genet Couns. 2016 Apr; 25(2):337-43. PMID: 26283062.
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    10. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 06; 97(2):343-52. PMID: 26235985.
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    11. Lopez HU, Haverfield E, Chung WK. Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. Pediatr Dev Pathol. 2015 Jul-Aug; 18(4):324-6. PMID: 25923035.
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    12. Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis. 2015 Sep; 38(5):941-8. PMID: 25758935.
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    13. Coromilas A, Wynn J, Haverfield E, Chung WK. Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. Clin Case Rep. 2015 Apr; 3(4):237-9. PMID: 25914815.
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    14. Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, Schmidt L, Warren S, Gibellini F, Kondakova A, Blair A, Bale S, Matyakhina L, Meck J, Aradhya S, Haverfield E. Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. Genet Med. 2015 Aug; 17(8):623-9. PMID: 25356966.
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    15. Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Lévesque S, Leblanc J, Menzies D, Haverfield E, Das S. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn. 2014 Feb; 34(2):163-7. PMID: 24218399.
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    16. Kang SP, Ramirez J, House L, Zhang W, Mirkov S, Liu W, Haverfield E, Ratain MJ. A pharmacogenetic study of vorinostat glucuronidation. Pharmacogenet Genomics. 2010 Oct; 20(10):638-41. PMID: 20729791.
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    17. Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42. PMID: 19701948.
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    18. Babic N, Haverfield EV, Burrus JA, Lozada A, Das S, Yeo KT. Comparison of performance of three commercial platforms for warfarin sensitivity genotyping. Clin Chim Acta. 2009 Aug; 406(1-2):143-7. PMID: 19545555.
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    19. Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8. PMID: 19050731.
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    20. Myles S, Bouzekri N, Haverfield E, Cherkaoui M, Dugoujon JM, Ward R. Genetic evidence in support of a shared Eurasian-North African dairying origin. Hum Genet. 2005 Jun; 117(1):34-42. PMID: 15806398.
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    21. Haverfield EV, McKenzie CA, Forrester T, Bouzekri N, Harding R, Serjeant G, Walker T, Peto TE, Ward R, Weatherall DJ. UGT1A1 variation and gallstone formation in sickle cell disease. Blood. 2005 Feb 01; 105(3):968-72. PMID: 15388579.
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