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Molecular Genetics Laboratory

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Susanne Kohl

SurnameKohl
First nameSusanne
NationalityGermany
Present position and titleCoordinator of the RetDis biobank and molecular genetics diagnostics and testings
Group leader, lecturer and associated head, Molecular Genetics Laboratory

Business address

Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Phone: +49 (0)7071 29-80702
Fax: +49 (0)7071 29-5725

E-mail: Susanne.Kohl[at]med.uni-tuebingen.de

Academic Education

05/1996 Diploma in Biology, Eberhard-Karls-University, Tübingen, Germany
07/2000 Ph.D. (Dr.rer.nat.) in Human Molecular Genetics, Eberhard-Karls-University, Tübingen, thesis project at the Molecular Genetics Laboratory, University Eye Hospital Tuebingen

Postdoctoral Training and Prior Positions

2000-2009PostDoc at the Molecular Genetics Laboratory, University Eye Hospital Tuebingen
Since 2002Coordinator of the RetDis biobank and molecular genetics diagnostics and testings
Since 2009Group leader and associated head, Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany

Awards

1999Attempto Award for Advances in Neurobiology

Research interests

In the past two decades there has been tremendous progress in defining the genetic basis of inherited retinal disease. Especially the completion of the human genome project and the development of new technologies for genetic analysis and testing (i.e. chip-based techniques for high-resolution genotyping and next generation sequencing) has brought unprecedented possibilities. For some disease entities, 50-80% of patients can be genotyped by analyzing the already known genes. But still - especially for cone photoreceptor disorders - only a limited number of genes are known to be associated with these rare disorders, and many genes and especially the disease pathomechanims remain to be discovered.

My main research focus lies on the identification of genes and mutations for autosomal recessive achromatopsia. It is a disorder characterized by low vision, complete colorblindness and strong glare, and maybe it is best characterized as dayblindness in addition to the term 'complete colorblindness'. I have been involved in the identification and characterization of all known genes - namely CNGA3, CNGB3, GNAT2, PDE6C and PDE6H - which are all crucial components of the cone phototransduction cascade. Due to our longlasting interest in this disorder, we have collected probably the world's largest patient cohort with more than 860 patients and 680 families. Yet 20- 30% of patients do not show mutations in the known genes. In these patients we are continuing our efforts to identify new genes and mutation applying the novel technologies like high-resolution genotyping by SNP-chips and exome sequencing.

Editorship for Scientific Journals & Reviewer Activities

  • ad hoc reviewer for several scientific journals (New England Journal of Medicine, PNAS, PlosOne, Human Genetics, Ophthalmology, Orphanet, Ophthalmic Genetics, Molecular Vision).
  • ad hoc reviewer for local and international funding agencies (Fight for Sight (UK), Binational Science Foundation BSF – United States / Israel (USA/IL), fortüne (Tuebingen, D).

Memberships and Functions in Scientific Societies

  • Association for Research in Vision and Ophthalmology

Publications

  1. Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Rod and Cone Function in Patients with KCNV2 Retinopathy. PLoS One. 2012;7(10):e46762.
  2. Wang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. Doc Ophthalmol. 2012 Aug 19. [Epub ahead of print]
  3. Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; the European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal recessive incomplete achromatopsia. Am J Hum Genet. 2012 Aug 15
  4. Thomas MG, McLean RJ, Kohl S, Sheth V, Gottlob I. Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol. 2012 Jul 11
  5. Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30.
  6. Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; the European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP. Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement. Am J Hum Genet. 2012 Jan 13;90(1):102-109. Epub 2011 Dec 15.
  7. Kohl S, Kitiratschky V, Papke M, Schaich S, Sauer A, Wissinger B. Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy. Adv Exp Med Biol. 2012;723:337-43.
  8. Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; The European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa. Am J Hum Genet. 2011 Aug 12;89(2):253-264. As member of the ERDC.
  9. Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B. Long-term follow up of the human phenotype in 3 siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8621-9. [Epub ahead of print]
  10. Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec ; 32(12): 1398-406. Epub 2011 Sep 12.
  11. Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. Ophthalmic Genet. 2011 Jul 5. [Epub ahead of print].
  12. Lam K, Guo H, Wilson GA, Kohl S, Wong F. Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. Arch Ophthalmol, Sep 2011; 129: 1212 - 1217.
  13. Kitiratschky VB, Glöckner CJ, Kohl S. Mutation Screening of the GUCA1B Gene in Patients With Autosomal Dominant Cone and Cone Rod Dystrophy. Ophthalmic Genet. 2011 Sep; 32(3):151-5. Epub 2011 Mar 15.
  14. Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I. High-Resolution In Vivo Imaging in Achromatopsia. Ophthalmology. 2011 May;118(5):882-7. Epub 2011 Jan 6.
  15. Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Sener EC, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. Epub 2010 Dec 1.
  16. Kohl S, Hamel CP. Clinical utility gene card for: Achromatopsia. Eur J Hum Genet. 2011 Jan 26. doi: 10.1038/ejhg.2010.231.
  17. Kohl S, Hamel CP. Clinical utility gene card for: Blue cone monochromatism. Eur J Hum Genet. 2011 Jan 26. doi: 10.1038/ejhg.2010.232.
  18. Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere E, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. IQCB1 mutations in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. Print 2011 Feb.
  19. Köhn L, Kohl S, Bowne SJ, Sullivan LS, Kellner U, Daiger SP, Sandgren O, Golovleva I. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genet. 2010 Sep; 31(3): 139-40. [Epub ahead of print]
  20. Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D. An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. Hum Genet. 2010 Jun 13. Hum Genet. 2010 Sep;128(3):261-7. Epub 2010 Jun 13.
  21. Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, G Jacobson S, Plomp AS, Hamel CP, Janecke AR, Wissinger B. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat. 2010 Jul; 31(7): 830-9.
  22. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.
  23. Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T. Oligocone trichromacy: clinical and molecular genetic investigations. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):89-95. Epub 2009 Sep 24.
  24. Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. Epub 2009 Nov 3.
  25. Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. Epub 2009 Jul 2.
  26. Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009 Aug;30(8):E782-96.
  27. Ebermann I, Wiesen MHJ, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ (2008) GPR98 mutations cause Usher Syndrome Type 2 in males: Comparison with the female phenotype. J Med Genet. 2009 Apr;46(4):277-80.
  28. Renner AB, Fiebig BS, Weber BFH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2 (peripherin/RDS) gene mutations. Am J Ophthalmol. 2009 Mar;147(3):518-530.e1.
  29. Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation. Br J Ophthalmol. 2008 Aug;92(8):1086-91.
  30. Ahuja Y, Kohl S, Traboulsi EI. CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol Vis. 2008 Jul 10;14:1293-7.
  31. Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadala M, Birch DG, Wissinger B, Zrenner E, Kohl S. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23.
  32. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat. 2008 Oct;29(10):1228-36
  33. Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B. Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci. 2008 May;27(9):2391-401.
  34. Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet. 2008 Jul;16(7):812-9. Epub 2008 Feb 20.
  35. Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7.
  36. Khan NW, Wissinger B, Kohl S, Sieving PA.CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71.
  37. Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7.
  38. Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67.
  39. Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A. Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis. 2005 Nov 17;11:996-1001.
  40. Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8.
  41. Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004 Dec;24(6):929-39.
  42. Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62.
  43. Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.  [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes] Ophthalmologe. 2004 Aug;101(8):830-5. German.
  44. Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.  Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35.
  45. Trankner D*, Jagle H*, Kohl S*, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B. Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004 Jan 7;24(1):138-47. * shared first authorship
  46. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet. 2002 Jun;23(2):109-20.
  47. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. Epub 2002 Jun 20.
  48. Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001 Oct;69(4):722-37. Epub 2001 Aug 30.
  49. Jägle, H., Kohl, S., Apfelstedt-Sylla, E., Wissinger, B., Sharpe, L.T. (2001). Manifestation of Rod Monochromacy. Col. Res. Appl. Suppl. 26:S96-99.
  50. Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000 Sep 1;9(14):2107-16.
  51. Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics. 1998 Aug 1;51(3):325-31.
  52. Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998 Jul;19(3):257-9.
  53. Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet. 1997 Aug;34(8):620-6.
  54. Reviews
  55. Kohl S, Wissinger B. "Maskun" - Zapfen außer Funktion: Achromatopsie, Prototyp einer erblichen Dystrophie der Zapfenphotorezeptoren. Online 19.09.10, www.univadis.de
  56. Poloschek CM, Kohl S. [Achromatopsia.] Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. German.
  57. Kohl S, Jägle H, Sharpe LT, Wissinger B. Achromatopsia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2004 Jun 24 [updated 2009 Jun 25].
  58. Kohl S. [Genetic causes of hereditary cone and cone-rod dystrophies.] Ophthalmologe. 2009 Feb;106(2):109-15. Review. German. Epub 2009 Feb 1.
  59. Wissinger B, Kohl S (2005). Genetische Ursachen des Farbensehens. Biospektrum Nr.1 11. Jahrgang. D13808, ISSN 0947-0867, Elsevier
  60. Kohl, S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B (1998). The role of the peripherin/RDS gene in retinal dystrophies. Acta anat. 162:75-84.

Monographies and Book chapters

  1. Kohl. S (2010) Achromatopsia – Rod monochromacy. In: Genetic Disease of the Eye. Ed. E. Traboulsi, Oxford University Press.
  2. Kohl S. (2009) Achromatopsia. In: Encyclopedia of Molecular Mechanisms of Disease, ed. Lang, Florian. Springer (ISBN: 978-3-540-67136-7)
  3. Deeb S, Kohl S (2003) Genetics of color vision deficiencies. In: Genetics in Ophthalmology. Developments in Ophthalmology, Vol. 37, ed. W. Behrens-Baumann. Karger, Basel.
  4. Kohl S, Jägle H, Zrenner E, Sharpe LT, Wissinger B (2001) The molecular basis of achromatopsia. In: New insights into retinal degenerative disease. eds. R.E. Anderson, M.M. LaVail, J.G. Hollyfield. Kluwer Academic/Plenum Publishers.