Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Birgit Funke, Ph.D.


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.
Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
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. Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 May; 22(5):599-609. PMID: 32092541.
  2. Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Circulation. 2020 Feb 04; 141(5):387-398. PMID: 31983221.
  3. Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, Zhang S, Bayrak-Toydemir P. Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Mar; 22(3):453-461. PMID: 31732716.
  4. Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS. Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genet Med. 2019 12; 21(12):2765-2773. PMID: 31147632.
  5. Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM. Best practices for benchmarking germline small-variant calls in human genomes. Nat Biotechnol. 2019 05; 37(5):555-560. PMID: 30858580.
  6. Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 02; 12(2):e002460. PMID: 30681346.
  7. Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 01 03; 104(1):187-190. PMID: 30609406.
    Citations:    Fields:    
  8. Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B. Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories. J Mol Diagn. 2019 05; 21(3):369-374. PMID: 30605766.
    Citations:    Fields:    
  9. Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H. Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations. Am J Med Genet A. 2019 03; 179(3):365-372. PMID: 30588760.
    Citations:    Fields:    
  10. Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622. PMID: 30311389.
    Citations:    Fields:    
  11. Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993. PMID: 30181607.
    Citations: 1     Fields:    
  12. Ceyhan-Birsoy O, Miatkowski MM, Hynes E, Funke BH, Mason-Suares H. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. Hum Mutat. 2018 07; 39(7):954-958. PMID: 29696744.
    Citations:    Fields:    
  13. 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.
    Citations: 11     Fields:    Translation:Humans
  14. Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Eur Heart J. 2017 Dec 07; 38(46):3461-3468. PMID: 28082330.
    Citations: 10     Fields:    Translation:HumansCells
  15. Ingles J, Burns C, Funke B. Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together. Circ Cardiovasc Genet. 2017 10; 10(5). PMID: 28986458.
    Citations:    Fields:    
  16. Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB. The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. Acad Pathol. 2017 Jan-Dec; 4:2374289517708309. PMID: 28815200.
    Citations: 1     
  17. Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. PMID: 28518168.
    Citations: 24     Fields:    Translation:Humans
  18. Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. Arch Pathol Lab Med. 2017 Jun; 141(6):787-797. PMID: 28322587.
    Citations: 1     Fields:    Translation:Humans
  19. Kudalkar EM, Almontashiri NA, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke BH. Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy. J Mol Diagn. 2016 11; 18(6):882-889. PMID: 27639548.
    Citations: 2     Fields:    Translation:Humans
  20. Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS. Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med. 2016 Aug 18; 375(7):655-65. PMID: 27532831.
    Citations: 68     Fields:    Translation:Humans
  21. Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, MacArthur DG, Farrall M, Cook SA, Watkins H. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017 02; 19(2):192-203. PMID: 27532257.
    Citations: 78     Fields:    Translation:Humans
  22. Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B. Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med. 2016 12; 18(12):1282-1289. PMID: 27228465.
    Citations: 7     Fields:    Translation:Humans
  23. Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 06; 62(6):799-806. PMID: 26861553.
    Citations:    Fields:    Translation:Humans
  24. Rehm HL, Hynes E, Funke BH. The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers. J Pers Med. 2016 Jan 27; 6(1). PMID: 26828522.
    Citations: 6     
  25. Funke BH. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. J Cardiovasc Transl Res. 2016 Feb; 9(1):1-2. PMID: 26739320.
    Citations: 1     Fields:    Translation:Humans
  26. Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS. VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet Med. 2016 07; 18(7):712-9. PMID: 26681316.
    Citations: 7     Fields:    Translation:Humans
  27. Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH. Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies. Mol Genet Genomic Med. 2016 Mar; 4(2):143-51. PMID: 27066507.
    Citations: 3     Fields:    
  28. Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2016 06; 18(6):545-53. PMID: 26562227.
    Citations: 9     Fields:    Translation:Humans
  29. Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS. Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Hum Mutat. 2016 Jan; 37(1):119-26. PMID: 26444186.
    Citations: 6     Fields:    Translation:Humans
  30. Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol. 2015 Jul; 33(7):689-93. PMID: 26154004.
    Citations: 29     Fields:    Translation:Humans
  31. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Apr; 17(4):319. PMID: 25835197.
    Citations: 3     Fields:    
  32. Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 2015 Feb 05; 96(2):235-44. PMID: 25658046.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  33. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov; 17(11):880-8. PMID: 25611685.
    Citations: 55     Fields:    Translation:Humans
  34. Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med. 2015 Apr; 139(4):481-93. PMID: 25152313.
    Citations: 52     Fields:    Translation:Humans
  35. Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014 Nov; 16(6):639-47. PMID: 25157971.
    Citations: 5     Fields:    Translation:HumansCells
  36. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040.
    Citations: 35     Fields:    Translation:Humans
  37. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug; 16(8):601-8. PMID: 24503780.
    Citations: 46     Fields:    Translation:Humans
  38. Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov; 84(5):453-63. PMID: 24033266.
    Citations: 39     Fields:    Translation:HumansCells
  39. Hoshino S, Sakamoto K, Vassilopoulos S, Camus SM, Griffin CA, Esk C, Torres JA, Ohkoshi N, Ishii A, Tamaoka A, Funke BH, Kucherlapati R, Margeta M, Rando TA, Brodsky FM. The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration. PLoS One. 2013; 8(10):e77787. PMID: 24204966.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  40. Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. Am J Med Genet A. 2013 Dec; 161A(12):3187-90. PMID: 23956225.
    Citations: 8     Fields:    Translation:Humans
  41. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Sep; 15(9):733-47. PMID: 23887774.
    Citations: 175     Fields:    Translation:Humans
  42. McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. PMID: 23815709.
    Citations: 5     Fields:    Translation:HumansCells
  43. Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AK, Chung BH. NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. BMJ Case Rep. 2013 Jan 22; 2013. PMID: 23345479.
    Citations: 5     Fields:    Translation:Humans
  44. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013 Mar; 15(2):158-70. PMID: 23274168.
    Citations: 45     Fields:    Translation:Humans
  45. Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012 Nov; 30(11):1033-6. PMID: 23138292.
    Citations: 105     Fields:    
  46. Lakdawala NK, Winterfield JR, Funke BH. Dilated cardiomyopathy. Circ Arrhythm Electrophysiol. 2013 Feb; 6(1):228-37. PMID: 23022708.
    Citations: 9     Fields:    Translation:HumansAnimals
  47. Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, O'Donnell CJ, Wilson JG, Altshuler DM, Hirschhorn JN, Seidman JG, Seidman C. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012 Sep 07; 91(3):513-9. PMID: 22958901.
    Citations: 36     Fields:    Translation:HumansCells
  48. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. PMID: 22464770.
    Citations: 33     Fields:    Translation:HumansCells
  49. Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, Disalvo TD, Hong CC. Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. Cardiogenetics. 2011 Aug 22; 1(1). PMID: 24062880.
    Citations: 3     
  50. Teekakirikul P, Cox S, Funke B, Rehm HL. Targeted sequencing using Affymetrix CustomSeq Arrays. Curr Protoc Hum Genet. 2011 Apr; Chapter 7:Unit7.18. PMID: 21480183.
    Citations: 4     Fields:    Translation:Humans
  51. Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Hernandez AL, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman TC, Rehm HL. The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat. 2011 May; 32(5):532-6. PMID: 21432942.
    Citations: 34     Fields:    Translation:Humans
  52. Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet. 2011 Feb 11; 88(2):183-92. PMID: 21310275.
    Citations: 27     Fields:    Translation:Humans
  53. Choudhry P, Joshi D, Funke B, Trede N. Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis. Dev Biol. 2011 Jan 15; 349(2):483-93. PMID: 21073867.
    Citations: 7     Fields:    Translation:AnimalsCells
  54. Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. J Mol Diagn. 2010 Nov; 12(6):818-27. PMID: 20864638.
    Citations: 8     Fields:    Translation:Humans
  55. Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010 May; 12(5):268-78. PMID: 20474083.
    Citations: 23     Fields:    Translation:Humans
  56. Yang Z, Funke BH, Cripe LH, Vick GW, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. LAMP2 microdeletions in patients with Danon disease. Circ Cardiovasc Genet. 2010 Apr; 3(2):129-37. PMID: 20173215.
    Citations: 5     Fields:    Translation:HumansCells
  57. Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010 Jan 26; 55(4):320-9. PMID: 20117437.
    Citations: 43     Fields:    Translation:HumansCells
  58. Suzuki G, Harper KM, Hiramoto T, Funke B, Lee M, Kang G, Buell M, Geyer MA, Kucherlapati R, Morrow B, Männistö PT, Agatsuma S, Hiroi N. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Hum Mol Genet. 2009 Oct 15; 18(20):3914-25. PMID: 19617637.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  59. Joshi VA, Duffy E, Funke BH, Farwell LM, Mancini-Dinardo D, Kucherlapati R. Platform evaluation for rapid genotyping of CYP2C9 and VKORC1 alleles. Per Med. 2009 Jul; 6(4):449-457. PMID: 29783542.
  60. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, Wright WE, Kucherlapati R, Brodsky FM. A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism. Science. 2009 May 29; 324(5931):1192-6. PMID: 19478182.
    Citations: 37     Fields:    Translation:HumansAnimalsCells
  61. Funke B, Autschbach F, Kim S, Lasitschka F, Strauch U, Rogler G, Gdynia G, Li L, Gretz N, Macher-Goeppinger S, Sido B, Schirmacher P, Meuer SC, Roth W. Functional characterisation of decoy receptor 3 in Crohn's disease. Gut. 2009 Apr; 58(4):483-91. PMID: 19039087.
    Citations: 14     Fields:    Translation:HumansCells
  62. 2. Victoria A. Joshi, Debora Mancini-DiNardo and Birgit H. Funke . Selection of a platform for mutation detection. Current Protocols in Human Genetics 7.15.1-7.15.30. 2008.
  63. Joshi VA, Mancini-DiNardo D, Funke BH. Selection of a platform for mutation detection. Curr Protoc Hum Genet. 2008 Jan; Chapter 7:Unit 7.15. PMID: 18428425.
    Citations: 1     Fields:    Translation:Humans
  64. Funke BH, Lencz T, Finn CT, DeRosse P, Poznik GD, Plocik AM, Kane J, Rogus J, Malhotra AK, Kucherlapati R. Analysis of TBX1 variation in patients with psychotic and affective disorders. Mol Med. 2007 Jul-Aug; 13(7-8):407-14. PMID: 17622328.
    Citations: 5     Fields:    Translation:HumansCells
  65. Burdick KE, Funke B, Goldberg JF, Bates JA, Jaeger J, Kucherlapati R, Malhotra AK. COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. Bipolar Disord. 2007 Jun; 9(4):370-6. PMID: 17547583.
    Citations: 25     Fields:    Translation:Humans
  66. Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test. 2007; 11(1):91-100. PMID: 17394398.
    Citations: 1     Fields:    Translation:HumansCells
  67. Burdick KE, Goldberg TE, Funke B, Bates JA, Lencz T, Kucherlapati R, Malhotra AK. DTNBP1 genotype influences cognitive decline in schizophrenia. Schizophr Res. 2007 Jan; 89(1-3):169-72. PMID: 17074466.
    Citations: 37     Fields:    Translation:Humans
  68. Long JM, LaPorte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A. Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics. 2006 Nov; 7(4):247-57. PMID: 16900388.
    Citations: 32     Fields:    Translation:AnimalsCells
  69. DeRosse P, Funke B, Burdick KE, Lencz T, Goldberg TE, Kane JM, Kucherlapati R, Malhotra AK. COMT genotype and manic symptoms in schizophrenia. Schizophr Res. 2006 Oct; 87(1-3):28-31. PMID: 16828262.
    Citations: 8     Fields:    Translation:Humans
  70. Kates WR, Antshel KM, Abdulsabur N, Colgan D, Funke B, Fremont W, Higgins AM, Kucherlapati R, Shprintzen RJ. A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome). Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 05; 141B(3):274-80. PMID: 16511839.
    Citations: 28     Fields:    Translation:HumansCells
  71. DeRosse P, Funke B, Burdick KE, Lencz T, Ekholm JM, Kane JM, Kucherlapati R, Malhotra AK. Dysbindin genotype and negative symptoms in schizophrenia. Am J Psychiatry. 2006 Mar; 163(3):532-4. PMID: 16513878.
    Citations: 30     Fields:    Translation:Humans
  72. Burdick KE, Lencz T, Funke B, Finn CT, Szeszko PR, Kane JM, Kucherlapati R, Malhotra AK. Genetic variation in DTNBP1 influences general cognitive ability. Hum Mol Genet. 2006 May 15; 15(10):1563-8. PMID: 16415041.
    Citations: 54     Fields:    Translation:HumansCells
  73. Finn CT, Funke B, Kikinis Z, Shenton M, Schiripo T. . Psychiatric Manifestations of Velocardiofacial Syndrome. In: Frontiers in Biological Psychiatry. Exploring the Relationship Among Genes, Brain Development, and the Emergence of Psychopathology. Frontiers in Biological Psychiatry. 2006.
  74. Hiroi N, Zhu H, Lee M, Funke B, Arai M, Itokawa M, Kucherlapati R, Morrow B, Sawamura T, Agatsuma S. A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice. Proc Natl Acad Sci U S A. 2005 Dec 27; 102(52):19132-7. PMID: 16365290.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  75. Funke B, Malhotra AK, Finn CT, Plocik AM, Lake SL, Lencz T, DeRosse P, Kane JM, Kucherlapati R. COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Behav Brain Funct. 2005 Oct 18; 1:19. PMID: 16232322.
    Citations: 33     Fields:    
  76. Funke B, Finn CT, Plocik AM, Lake S, DeRosse P, Kane JM, Kucherlapati R, Malhotra AK. Association of the DTNBP1 locus with schizophrenia in a U.S. population. Am J Hum Genet. 2004 Nov; 75(5):891-8. PMID: 15362017.
    Citations: 45     Fields:    Translation:Humans
  77. Gross SJ, Ferreira JC, Morrow B, Dar P, Funke B, Khabele D, Merkatz I. Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis. Am J Obstet Gynecol. 2002 Aug; 187(2):457-62. PMID: 12193943.
    Citations: 11     Fields:    Translation:Humans
  78. Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schüler T, Schorle H, Brown MC, Adams J, Morrow BE. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet. 2001 Oct 15; 10(22):2549-56. PMID: 11709542.
    Citations: 32     Fields:    Translation:HumansAnimalsCells
  79. Funke B, Pandita RK, Morrow BE. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11. Genomics. 2001 May 01; 73(3):264-71. PMID: 11350118.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  80. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001 Feb 23; 104(4):619-29. PMID: 11239417.
    Citations: 242     Fields:    Translation:HumansAnimalsCells
  81. Maldonado-Saldivia J, Funke B, Pandita RK, Schüler T, Morrow BE, Schorle H. Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome. Mech Dev. 2000 Aug; 96(1):121-4. PMID: 10940632.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  82. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999 Jul; 8(7):1157-67. PMID: 10369860.
    Citations: 118     Fields:    Translation:HumansCells
  83. Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet. 1999 Mar; 64(3):747-58. PMID: 10053009.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  84. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Genomics. 1998 Oct 15; 53(2):146-54. PMID: 9790763.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  85. Puech A, Saint-Jore B, Funke B, Gilbert DJ, Sirotkin H, Copeland NG, Jenkins NA, Kucherlapati R, Morrow B, Skoultchi AI. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26):14608-13. PMID: 9405660.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  86. Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Genomics. 1997 Dec 15; 46(3):364-72. PMID: 9441739.
    Citations:    Fields:    Translation:HumansAnimalsCells
  87. Funke B, Zuleger B, Benavente R, Schuster T, Goller M, Stévenin J, Horak I. The mouse poly(C)-binding protein exists in multiple isoforms and interacts with several RNA-binding proteins. Nucleic Acids Res. 1996 Oct 01; 24(19):3821-8. PMID: 8871564.
    Citations: 23     Fields:    Translation:AnimalsCells
  88. Funke, B. . Doctoral Thesis: Isolation and characterization of the genomic locus and the splice variants of the mouse poly(C)-binding (mCBP). 1996.
  89. Goller M, Funke B, Gehe-Becker C, Kröger B, Lottspeich F, Horak I. Murine protein which binds preferentially to oligo-C-rich single-stranded nucleic acids. Nucleic Acids Res. 1994 May 25; 22(10):1885-9. PMID: 8208614.
    Citations: 7     Fields:    Translation:AnimalsCells
  90. Funke, B. . Master's Thesis: Analysis of the frequency of homologous recombination in embryonic stem cells using vectors with unilateral homology. 1992.
Local representatives can answer questions about the Profiles website or help with editing a profile or issues with profile data. For assistance with this profile: HMS/HSDM faculty should contact feedbackcatalyst.harvard.edu. For faculty or fellow appointment updates and changes, please ask your appointing department to contact HMS. For fellow personal and demographic information, contact HMS Human Resources at human_resourceshms.harvard.edu. For faculty personal and demographic information, contact HMS Office for Faculty Affairs at facappthms.harvard.edu.
Funke's Networks
Click the
buttons for more information and interactive visualizations!
Concepts (357)
Co-Authors (56)
Similar People (60)
Same Department 
Physical Neighbors
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.