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Eden Haverfield

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InstitutionUniversity of Chicago
AddressChicago IL 60637
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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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    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. Bauer P, Basto JP, Beetz C, Haverfield E, Boettcher T. Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. Neurology. 2023 09 05; 101(10):456-457. PMID: 37666671; PMCID: PMC10491445.
      Citations:    Fields:    Translation:Humans
    2. Desai NV, Barrows ED, Nielsen SM, Hatchell KE, Anderson MJ, Haverfield EV, Herrera B, Esplin ED, Lucassen A, Tung NM, Isaacs C. Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer. JCO Precis Oncol. 2023 08; 7:e2200695. PMID: 37535880; PMCID: PMC10581610.
      Citations:    Fields:    Translation:Humans
    3. Linder JE, Allworth A, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K, eMERGE Consortium, Peterson JF, Bland HT. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. PMID: 36621880; PMCID: PMC10085845.
      Citations: 21     Fields:    Translation:Humans
    4. Schmidlen TJ, Bristow SL, Hatchell KE, Esplin ED, Nussbaum RL, Haverfield EV. The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives. Front Genet. 2022; 13:867226. PMID: 35783293; PMCID: PMC9243226.
      Citations: 5     
    5. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 Nov 03; 19(1):288. PMID: 34732190; PMCID: PMC8567716.
      Citations: 2     Fields:    
    6. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199. PMID: 34404389; PMCID: PMC8371767.
      Citations: 11     Fields:    Translation:Humans
    7. Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ. Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. JAMA Cardiol. 2021 08 01; 6(8):902-909. PMID: 34037665; PMCID: PMC8156154.
      Citations: 9     Fields:    Translation:Humans
    8. 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.
      Citations: 7     Fields:    Translation:HumansPHPublic Health
    9. 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.
      Citations: 1     Fields:    
    10. 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. Am J Med Genet A. 2018 09; 176(9):2024-2027. PMID: 30240112.
      Citations: 8     Fields:    Translation:Humans
    11. 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; PMCID: PMC5876064.
      Citations: 135     Fields:    Translation:Humans
    12. 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; PMCID: PMC4921949.
      Citations: 12     
    13. 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. Am J Med Genet A. 2016 07; 170(7):1791-8. PMID: 27133397.
      Citations: 27     Fields:    Translation:Humans
    14. Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K. FTO variant associated with malformation syndrome. Am J Med Genet A. 2016 Apr; 170A(4):1023-8. PMID: 26697951.
      Citations: 7     Fields:    Translation:Humans
    15. 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.
      Citations: 425     Fields:    Translation:Humans
    16. 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.
      Citations: 7     Fields:    Translation:Humans
    17. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, 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, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T, Helsmoortel C, Tatton-Brown K. 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; PMCID: PMC4573244.
      Citations: 118     Fields:    Translation:HumansAnimalsCells
    18. 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.
      Citations: 5     Fields:    Translation:Humans
    19. 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; PMCID: PMC4919120.
      Citations: 15     Fields:    Translation:Humans
    20. 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; PMCID: PMC4405308.
      Citations: 1     
    21. 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.
      Citations: 60     Fields:    Translation:Humans
    22. 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, Leblanc J, Menzies D, Haverfield E, Das S, Lévesque S. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn. 2014 Feb; 34(2):163-7. PMID: 24218399.
      Citations: 4     Fields:    Translation:Humans
    23. 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; PMCID: PMC3636562.
      Citations: 14     Fields:    Translation:HumansCells
    24. 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; PMCID: PMC2783874.
      Citations: 22     Fields:    Translation:HumansCells
    25. 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.
      Citations: 3     Fields:    Translation:Humans
    26. 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; PMCID: PMC2986498.
      Citations: 28     Fields:    Translation:Humans
    27. 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.
      Citations: 17     Fields:    Translation:HumansAnimals
    28. 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.
      Citations: 22     Fields:    Translation:HumansCells
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