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Eden Haverfield

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InstitutionUniversity of Chicago
AddressChicago IL 60637
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    1. Linder JE, Allworth A, Bland ST, 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, Peterson JF, Linder JE, Allworth A, Bland ST, 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. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Jan 06; 25(4):100006. PMID: 36621880.
      Citations:    Fields:    
    2. Schmidlen TJ, Bristow SL, Hatchell KE, Esplin ED, Nussbaum RL, Haverfield EV, 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:    
    3. 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, 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: 1     Fields:    
    4. 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, 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: 8     Fields:    Translation:Humans
    5. Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ, 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: 4     Fields:    Translation:Humans
    6. Nussbaum RL, Haverfield E, Esplin ED, Aradhya S, 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
    7. Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL, 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:    
    8. Couser NL, Keelean-Fuller D, Davenport ML, Haverfield E, Masood MM, Henin M, Aylsworth AS, 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: 7     Fields:    Translation:Humans
    9. 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, 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: 102     Fields:    Translation:Humans
    10. Garcia J, Tahiliani J, Johnson NM, Aguilar S, Beltran D, Daly A, Decker E, Haverfield E, Herrera B, Murillo L, Nykamp K, Topper S, 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     
    11. 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, 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: 26     Fields:    Translation:Humans
    12. Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K, 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: 5     Fields:    Translation:Humans
    13. 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, 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: 368     Fields:    Translation:Humans
    14. Arora S, Haverfield E, Richard G, Haga SB, Mills R, 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
    15. 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, 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, 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, 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. 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: 102     Fields:    Translation:HumansAnimalsCells
    16. Lopez HU, Haverfield E, Chung WK, 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
    17. Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK, 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: 13     Fields:    Translation:Humans
    18. Coromilas A, Wynn J, Haverfield E, Chung WK, 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     
    19. 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, 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: 52     Fields:    Translation:Humans
    20. 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, L?vesque S, Leblanc J, Menzies D, Haverfield E, Das S, 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, L?vesque 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.
      Citations: 3     Fields:    Translation:Humans
    21. Kang SP, Ramirez J, House L, Zhang W, Mirkov S, Liu W, Haverfield E, Ratain MJ, 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
    22. 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, 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: 21     Fields:    Translation:HumansCells
    23. Babic N, Haverfield EV, Burrus JA, Lozada A, Das S, Yeo KT, 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
    24. Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S, 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
    25. Myles S, Bouzekri N, Haverfield E, Cherkaoui M, Dugoujon JM, Ward R, 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
    26. Haverfield EV, McKenzie CA, Forrester T, Bouzekri N, Harding R, Serjeant G, Walker T, Peto TE, Ward R, Weatherall DJ, 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: 21     Fields:    Translation:HumansCells
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