Sherri Bale, PhD, FACMG

Sherri Bale


Sherri Bale is a Board-Certified Ph.D. Medical Geneticist, and a Founding Member of the American College of Medical Genetics. She has more than 35 years experience in clinical, cytogenetic, and molecular genetics research and diagnostic testing and has authored over 160 papers, book chapters, and books. Sherri started GeneDx after 16 years at the National Institutes of Health, the last nine as head of the Genetic Studies Section in the Laboratory of Skin Biology at the NIAMS. She is known both nationally and internationally for her work in identifying the basis of hereditary diseases, especially those affecting the skin, and for bringing clinical grade molecular testing to the rare disease community of patients and families.

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Peer reviewed Research Publications, Selected

  1. Chakravarti A and Bale SJ:  Differences in the frequency of X-linked deleterious genes in human populations.  Am J Human Genet 35:1252-1257, 1983.
  2. Bale SJ, Chakravarti A, Ferrell RE, and Spence MA:  Possible heterogeneity in the PGP-HPA linkage.  Am J Human Genet 36:808-814, 1984.
  3. Bale SJ, Chakravarti A, and Strong LC:  Aggregation of colon cancer in family data.  Genet Epidemiol 1:53-61, 1984.
  4. Bale SJ, Greene MH, Murray C, Goldin LR, Johnson AH, and Mann D:  Hereditary malignant melanoma is not linked to the HLA complex on chromosome 6.  Int J Cancer 36:439-443, 1985.
  5. Bale SJ, Bale AE, and Levine PH:  The “family study” approach to investigating the role of genetic factors in nasopharyngeal carcinoma.  In Levine, P.H., Ablashi, D.V., Pearson, G.R., and Kottaridis, S. (Eds.):  Developments in Medical Virology.  Vol. 1, Epstein Barr Virus and Associated Diseases.  Boston, Martinus Nijoff, 1985, pp. 131-144.
  6. Chakravarti A, Strong LC, Bale S, and Ferrell RE:  Genetic epidemiology of adenocarcinoma of the colon.  In Muller, Weber (Eds.):  Familial Cancer, First International Research Conference.  Basel, Karger Press, 1985, pp. 81-84.
  7. Bale SJ, Chakravarti A, and Greene MH:  Cutaneous malignant melanoma and familial dysplastic nevi:  evidence for autosomal dominance and pleiotropy.  Am J Human Genet 38:188-196, 1986.
  8. Greene MH and Bale SJ:  Genetic aspects of cutaneous malignant melanoma.  In Gallagher, R.P. (Ed.):  Recent Results in Cancer Research.  Vol 102, Epidemiology of Malignant Melanoma. Philadelphia, Springer-Verlag, 1986, pp. 144-153.
  9. Bale SJ, Harris EL, and Bale AE:  Linkage relationships among four 11p markers in the Utah dataset.  Genet Epidemiol (Suppl) 1:  117-121, 1986.
  10. Harris EL and Bale SJ:  Genetic analysis workshop IV:  Huntington disease-G8 linkage analysis.  Genet Epidemiol (Suppl) 1:  229-233, 1986.
  11. Chakravarti A, Halloran SL, Bale SJ, and Tucker MA:  Etiological heterogeneity in Hodgkin’s disease:  HLA linked and unlinked determinants of susceptibility independent of histological concordance.  Genet Epidemiol 3:407-415, 1986.
  12. Bale SJ, Greene MH, and Lovrien E:  Hereditary melanoma, the dysplastic naevus syndrome and transferrin.  Cancer Genet Cytogenet 23:279-280, 1986.
  13. Bale AE, Bale SJ, Schlesinger SL, and McFarland HF:  Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia.  Am J Med Genet 27:  595-602, 1987.
  14. Lubin JH and Bale SJ: On the detection of excess disease risk in family data.  Genet Epidemiol 4:447-456, 1987.
  15. Gerhard DS, Dracopoli NC, Bale SJ, Houghton AN, Payne CE, and Housman, DE:  Evidence against Ha-ras-1 involvement in sporadic and familial melanoma.  Nature 325:73-75, 1987.
  16. Bale SJ and Chakravarti A:  Evidence for autosomal dominance and pleiotropy of the cutaneous malignant melanoma (CMM)/dysplastic nevus (DN) gene.  Am J Human Genet 40:466-467, 1987.
  17. Spence MA, Sparkes RS, Parry DM, Bale SJ, Cortessis V, and Mulvihill JJ:  Genetic linkage studies with neurofibromatosis:  the question of heterogeneity.  J Med Genet 24:527-529, 1987.
  18. Buchmann RB, Bale SJ, Greene MH, and Pandey JP:  Immunoglobulin  allotypes and familial cutaneous malignant melanoma (CMM)/dysplastic nevi (DN):  a family study.  Expl Clin Immunogenet 5:238-242, 1988.
  19. Dracopoli NC, Rose E, Whitfield GK, Guidon P, Bale SJ, Chance PA, Kourides IA, and Housman DE:  Two thyroid hormone regulated genes, the beta subunits of nerve growth factor (NGFB) and thyroid stimulating hormone (TSHB), are located less than 310 kb apart in both human and mouse genomes. Genomics  3:161-167, 1988.
  20. Dracopoli NC and Bale SJ: Genetic aspects of familial cutaneous malignant melanoma. Semin Oncol  15:541-548, 1988.
  21. Tucker MA and Bale SJ: Clinical aspects of familial cutaneous malignant melanoma. Semin Oncol  15:524-528, 1988.
  22. Bale SJ and Dracopoli NC: Chromosome 9p and hereditary malignant melanoma. J Natl Ca Inst  81:70, 1988.
  23. Bale SJ, Dracopoli NC, Tucker MA, Clark WH Jr, Fraser MC, Stanger BZ, Green P, Donis-Keller H, Housman DE and Greene MH: Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. New Engl J Med 320:  1367-1372, 1989.
  24. Dracopoli NC, Harnett P, Bale SJ, Stanger BZ, Tucker MA, Housman DE,and Kefford RF: Loss of alleles from distal chromosome 1p occurs late in melanoma tumor progression. Proc Natl Acad Sci USA 86:4614-4618, 1989.
  25. Bale SJ, Bale AE, Stewart K, Dachowski L, McBride OW, Glaser T, Green JE III, Mulvihill JJ, Brandi ML, Sakaguchi K, Aurbach GD, and Marx SJ: Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 4:320-322, 1989.
  26. Caporaso N, Pickle LW, Bale SJ, Ayesh R, Hetzel M, and Idle J.: The distribution of debrisoquine metabolic phenotypes and implications for the suggested association with lung cancer risk. Genet Epidemiol 6:517-524, 1989.
  27. Bale AE, Bale SJ, Murli H, Ivett J, Mulvihill JJ, and Parry DM: Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. Cancer Genet Cytogenet 42:  273-279, 1989.
  28. Pulver AE and Bale SJ: Availability of schizophrenic patients and their families for genetic linkage studies: Findings from the Maryland Epidemiology Sample. Genet Epidemiol 6:671-680, 1989.
  29. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, Housman DE and Paul SM: Revaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature 342:238-243, 1989.
  30. Bale SJ and Tucker MA: Mutation rate estimate in hereditary cutaneous malignant melanoma/dysplastic nevi. Am J Med Genet   35:293-294, 1990.
  31. Hosoe S, Brauch H, Latif F, Glenn G, Daniel L, Bale S, Choyke P, Gorin M, Oldfield E, Berman A, Goodman J, Orcutt M, Hampsch K, Delisio J, Modi W, McBride W, Linehan M, Lerman M, and Zbar B: Close linkage of the von Hippel-Lindau disease to a highly polymorphic marker at 3p26. Genomics 8:634-640, 1990.
  32. Fountain J, Bale SJ, Housman DE, Dracopoli NC: The genetics of melanoma. Cancer Surveys 9:645-671, 1990.
  33. Bale SJ, Amos CI, Parry DM, Bale AE: The relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type 1. Am J Med Genet 40:206-210, 1991.
  34. Nee LE, Gomez MR, Dambrosia J, Bale SJ, Eldridge R, Polinsky RJ: Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. Clinical Autonomic Research 1:9-13, 1991.
  35. Bale SJ, Dracopoli NC, and Tucker MA: The Genetics of Human Cutaneous Malignant Melanoma. In Balch, C.M., Houghton, A., Sober, A., and Milton G. (Eds.): Cutaneous Melanoma, Second Edition, Philadelphia, PA. J.B. Lippincott Co., 19¬¬91, pp 93-100.
  36. Amos CI, Martinez MM, and Bale SJ: Can a susceptibility locus for schizophrenia be excluded from 5q11-12? Am J Hum Genet 48:1206-1208, 1991.
  37. Dracopoli NC, Bale SJ, Fountain JW: Genetic analysis of familial melanoma. Brandi ML, White R (Eds) Hereditary Tumors. Sereno Symposia Publications, Vol 83, Raven Press, New York, pp. 39-45, 1991.
  38. Levine PH, Pocinki AG, Madigan P and Bale SJ: Familial nasopharyngeal carcinoma in patients who are not Chinese. Cancer 70:1024-1029, 1992.
  39. Goldstein AM, Bale SJ, and Tucker MA: Linkage analysis of melanoma alone and PND, D1S47, and LMYC.  MacCluer JW, Chakravarti A, Cox D, Bishop DT, Bale SJ, Skolnick MH (Eds) “Genetic Analysis Workshop 7: Issues in Gene Mapping and Detection of Major Genes” Cytogenet Cell Genet 59:203-205, 1992.
  40. Bale SJ, Goldstein AM, and Tucker MA: Description of the National Cancer Institute melanoma families. MacCluer JW, Chakravarti A, Cox D, Bishop DT, Bale SJ, Skolnick MH (Eds) “Genetic Analysis Workshop 7: Issues in Gene Mapping and Detection of Major Genes” Cytogenet Cell Genet 59:159-160, 1992.
  41. Gailani MR, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S, Drum MA, Pastakia B, McBride OW, Kase R, Greene MH, Mulvihill JJ, and Bale AE: Developmental defects in Gorlin Syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 69:111-117, 1992.
  42. Tokar IP, Fraser MC, and Bale SJ: Genodermatoses with profound malignant potential. Seminars Onc Nurs 8:272-280, 1992.
  43. Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, Korge BP, McBride OW, Steinert PM, and Bale SJ: Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics 1:301-305, 1992.
  44. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, and Steinert PM: A leucine to proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70:821-828, 1992.
  45. Goldstein AM, Dracopoli NC, Ho EC, Fraser MC, Kearns KS, Bale SJ, McBride OW, Clark WH, and Tucker MA: Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus on chromosome 1p and evidence for genetic heterogeneity. Am J Human Genet 52:537-550, 1993.
  46. Goldstein AM, Bale SJ, DiGiovanna JJ, and Peck GL: Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 29:34-41, 1993.
  47. Bale SJ, Compton JG, and DiGiovanna JJ: Epidermolytic hyperkeratosis. Seminars in Dermatology 12:202-209, 1993.
  48. Milstone LM, Bale SJ and Insogna KL: Secondary hyperparathyroidism in patients with ichthyosis is not caused by vitamin D deficiency or ingestion of retinoids. Arch Dermatol 129:648, 1993.
  49. Steinert PM and Bale SJ: Mutations in keratin intermediate filaments cause genetic skin diseases. Trends in Genetics 9:280-284, 1993.
  50. Steinert PM, Yang J-M, Bale SJ, Compton JG: Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Com 197:840-848, 1993.
  51. DiGiovanna JJ and Bale SJ: Epidermolytic Hyperkeratosis: Applied molecular genetics. Prog Dermatol 27:(3)1-5, 1993. Reprinted in J Invest Dermatol 102:390-394, 1994.
  52. Yang J-M, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol 102:17-23, 1994.
  53. Chipev CC, Yang J-M, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ: Preferential sites in keratin 10 mutated in epidermolytic hyperkeratosis. Am J Human Genet 54:179-190,1994.
  54. Goldstein AM, Pastakia B, DiGiovanna JJ, Poliak S, Santucci S, Kase R, Bale AE, Bale SJ: Clinical and genetic findings in two African-American families with the nevoid basal cell carcinoma syndrome. Am J Med Genet 50:272-281, 1994.
  55. Compton JG and Bale SJ: Of keratins and collagens [Book Review]. Trends in Cell Biol 4:107-108,1994.
  56. Goldstein AM, Stewart C, Bale AE, Bale SJ, Dean M: Localization of the gene for the nevoid basal cell carcinoma syndrome. Am J Human Genet 54:765-773,1994.
  57. Rubin LA, Amos CI, Wade JA, Martin JR, Bale SJ, Bonney G, Little AH, Rubenstein JD, Siminovitch KA: Investigating the genetic basis for ankylosing spondylitis: Linkage studies with the major histocompatibility complex region. Arthritis & Rheumatism 8:1212-1220, 1994.
  58. Amos CI and Bale SJ: Genetics in epidemiologic studies. J Invest Dermatol 102:46S-48S,1994.
  59. Bale SJ and Doyle SZ: The genetics of ichthyosis: A primer for epidemiologists. J Invest Dermatol 102:49S-50S,1994.
  60. DiGiovanna JJ and Bale SJ: Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 130:1026-1035, 1994; Translated into Portuguese and reprinted in Arquivos de Dermatol 3:846-860, 1996.
  61. Compton JG, Goldstein AM, Turner M, Bale AE, Kearns KS, McBride OW, Bale SJ: Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9q. J Invest Dermatol 103:178-181,1994.
  62. Kimonis V, DiGiovanna JJ, Yang J-M, Doyle SZ, Bale SJ, Compton JG: A mutation in the V1 end domain of keratin 1 causing non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 103:764-769, 1994.
  63. Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, Tanaka T, Harth W, McBride OW, Compton JG, Bale SJ, DiGiovanna JJ: Fine mapping of the Darier disease locus on chromosome 12q. J Invest Dermatol 103:665-668, 1994.
  64. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ: Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Human Genet 55:1146-1152, 1994.
  65. Russell LJ, DiGiovanna JJ, Rogers GR, Hashem N, Steinert PM, Compton JG, Bale SJ: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genetics 9:279-283, 1995.
  66. Richard G, Korge BP, Wright AR, Mazzanti C, Harth W, Annicchiarico-Petruzzelli M, Compton JG, Bale SJ: Hailey-Hailey disease maps to a 5cM interval on chromosome 3q21-q24. J Invest Dermatol 105:357-360, 1995.
  67. Rogers G, Rizzo W, Zlotogorski A, Hashem N, Lee M, Compton J, Bale SJ: Genetic homogeneity in Sjogren-Larsson syndrome: Linkage to chromosome 17 in families of different non-Swedish ethnic origin. Am J Hum Genet 57:1123-1129, 1995.
  68. Richard G, DeLaurenzi V, Didona B, Bale SJ, Compton J: Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder, white sponge nevus. Nature Genetics 11:453-455, 1995.
  69. Bale SJ, Compton JG, Russell LR, DiGiovanna JJ: Heterogeneity in lamellar ichthyosis. [Letter] J Invest Dermatol 107:140, 1996.
  70. Chidambaram A, Goldstein A, Gailani M, Gerrard B, Bale SJ, DiGiovanna J, Bale A, Dean M: Mutations in the Human Homolog of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599-4601,1996.
  71. Bale SJ, Russell LJ, Lee ML, Compton JG, DiGiovanna JJ: Congenital recessive ichthyosis unlinked to loci for trangslutaminase 1, 2, or 3. J Invest Dermatol 107:808-811, 1996.
  72. Bale SJ: When genetics gets under your skin. J Cutan Med & Surg 1:97-100, 1996.
  73. Richard G, Itin P, Lin JP, Bon A, Bale SJ: Evidence for genetic heterogeneity in monilethrix. J Invest Dermatol 107:812-814, 1996.
  74. Wartenfeld R, Golomb E, Katz G, Bale SJ, Goldman B, Pras M, Kastner DL, Pras E: Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60:617-624, 1997.
  75. Bale SJ and DiGiovanna JJ: Genetic Approaches to Understanding the Keratinopathies. In James, Cockerell, Dzubow, Paller and Yancey (Eds.): Advances in Dermatology, Vol. 12, Chicago, Mosby Press 1997, pp.99-113.
  76. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ: Clinical features in 105 persons with Nevoid Basal Cell Carcinoma Syndrome. Am J Med Genet 69:299-308, 1997.
  77. DeLaurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova N, Steinert PM, Rizzo WB: Sjogren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. J. Invest Dermatol 109:79-83, 1997.
  78. Bale SJ: Hair today – hair tomorrow.  J Cutan Med & Surg 1:241-242, 1997.
  79. Lin JP, Bale SJ: Parental transmission and chromosome 18 allele sharing in bipolar affective disorder. Genet Epid 14:665-668, 1997.
  80. Richard G, Lin JP, Smith L, Whyte Y, Itin P, Wollina U, Epstein E, Hohl D, Giroux J-M, Charnas L, Bale SJ, DiGiovanna JJ: Linkage studies in erythrokeratodermias: Fine mapping, genetic heterogeneity, and analysis of candidate genes. J. Invest Dermatol 109:666-671, 1997.
  81. Bale SJ: A flare-up of psoriasis genes. J Cutan Med & Surg 2:120-122, 1997.
  82. DiGiovanna JJ, Bale SJ, Steinert PM: Epidermolytic Hyperkeratosis. In T. Kupper (Ed.): Principles of Molecular Medicine, Chap. 74, Humana Press, pp 707-712, 1998.
  83. Darling TN, Koh BB, Bale SJ, Compton JG, Bauer JW, Hintner H, Yancey KB: A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele.J. Invest Dermatol 110:170-173, 1998.
  84. Bale SJ: Geneticists share the family jewels. J Cutan Med & Surg 2:168-171, 1998.
  85. Ginn LR, Lin JP, Mbauya A, Plotz PH, Bale SJ, Wilder RL, Miller FW: Familial autoimmunity in pedigrees of idiopathic inflammatory myopathy patients suggests common genetic risk factors for many autoimmune diseases. Arthritis & Rheumatism 41:400-405, 1998.
  86. Hirsch R, Lin JP, Scott WW, Ma LD, Pillemer SR, Kastner DL, Jacobsson LTH, Bloch DA, Knowler WC, Bennett PH, Bale SJ: Rheumatoid arthritis in the Pima Indians: The intersection of epidemiologic, demographic, and genealogic data. Arthritis Rheum 41:1464-1469, 1998.
  87. Bale SJ, Falk RT, Rogers GR: Patching together the genetics of Gorlin syndrome. J Cut Med & Surg 3:31-34, 1998.
  88. Lin JP, Cash J, Doyle S, Peden S, Kanik K, Amos C, Bale SJ, Wilder R: Familial clustering of rheumatoid arthritis with other autoimmune disease: A pilot study. Human Genetics 103:475-482, 1998.
  89. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ: Functional defects of Cx26 due to a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genetics 103:393-399, 1998.
  90. Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH, DiGiovanna JJ, Compton JG, Bale SJ: Mutations in the human connexin gene (GJB3) cause erythrokeratodermia variabilis. Nature Genetics 20:366-369, 1998.
  91. Bale SJ: Pseudoxanthoma Elasticum: A satisfying sibling study. J Cutan Med & Surg 3:154-156, 1999.
  92. Bale SJ: The “sins” of the fathers: Self-healing squamous epithelioma in Scotland. J Cutan Med & Surg 3:207-210, 1999.
  93. Lin JP, Hirsch R, Jacobssen LTH, Scott WW, Ma LD, Pillemer SR, Knowler WC, Kastner DL, Bale SJ: Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indians. Genetics in Med 1:136-141, 1999.
  94. El-Gabalawy HS, Goldbach-Mansky R, Smith D 2nd, Arayssi T, Bale S, Gulko P, Yarboro C, Wilder RL, Klippel JH, Schumacher HR Jr: Association of HLA alleles and clinical features in patients with synovitis of recent onset. Arthritis Rheum 42:1696-1705, 1999.
  95. Bale SJ: Of hairless mice and men: The genetics of congenital alopecia universalis/congenital atrichia. J Cutan Med & Surg 3: 309-311, 1999.
  96. Shevchenko YO, Bale SJ, Compton JG: Efficient mutation screening using automated bi-directional dideoxy finger-printing. Biotechniques 28:134-138, 2000.
  97. Khan SG, Metter J, Tarone RE, Bohr V, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH: A new xeroderma pigmentosum group C poly (AT) insertion/deletion polymorphism. Carcinogenesis 21:1821-1825, 2000.
  98. Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ: Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: Molecular, genetic, genealogic, and clinical studies. Human Genetics 106: 492-499, 2000.
  99. Sprecher E, Bale SJ, DiGiovanna JJ, Uitto J, Richard G: Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus. J Invest Dermatol 114:741-742, 2000.
  100. Richard G, Brown N, Smith LE, Terrinoni A, Melino G, MacKie RM, Bale SJ, Uitto J: The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3. Human Genetics 106:321-329, 2000.
  101. Bale SJ, Toro JR: Genetic basis of Darier-White disease: Bad pumps cause bumps. J Cutan Med & Surg 4:103-106, 2000.
  102. Bale SJ: The Morbid Anatomy of the Dermatologic Genome: An Update for the Third Millennium. J Cutan Med & Surg 5:117-125, 2001.
  103. Compton JG, DiGiovanna JJ, Johnston K, Fleckman P, Bale SJ: The absent granular layer  histology in ichthyosis vulgaris is linked to the epidermal differentiation complex on chromosome 1. Exp Dermatol (In Press)
  104. Szymko YM, Russell LJ, Bale SJ, Griffith AJ. Auditory manifestation of   Keratitis-Ichthyosis-Deafness (KID) syndrome. Laryngoscope 112:272-280, 2002.
  105. Bale SJ.  Autosomal Recessive Congenital Ichthyosis. In: GeneClinics: Clinical Genetic Information Resource [database online]. Copyright, University of Washington, Seattle. Available at (Jan 2001)
  106. Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease–novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 10: 19-27, 2001.
  107. Sprecher E, Chavanas S, DiGiovanna J, Amin S, Nielson K, Prendiville J, Silverman R, Esterly N, Spraker M, Guelig E, de Luna M, Williams M, Buehler B, Pfendner E, Bale S, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome – Implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001 117:179-87, 2001.
  108. Bale SJ, DiGiovanna JJ. Cancer-associated genodermatoses and familial cancer syndromes with cutaneous manifestations. Clinics in Dermatology 19: 284-289, 2001.
  109. Anikster Y, Huizing M, White M, Shevchenko Y, Fitzatrick, D, Touchman J, Compton J, Bale S, Swank R, Gahl W, Toro J.  Mutation of a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 28:376-80, 2001.
  110. Bale SJ. Pediatric dermatophytosis and cutaneous candidiasis: Families infected with Trichophyton rubrum. Cutis 67: 36-37, 2001.
  111. Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum  Genet 111:464, 2002.
  112. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ,   DiGiovanna JJ, Uitto J, Russell L. Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome. Am J Hum Genet 70:1341- 1348, 2002.
  113. Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol 119:692-8, 2002.
  114. Toro JR, Shevchenko YO, Compton JG, Bale SJ. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome.  J Med Genet 39:E10, 2002.
  115. Richard G, Brown N, Rouan F, Van der Schroeff J-G, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol 120:601-609, 2003.
  116. Kimonis VE, Mehta SG, DiGiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.  Genet Med 6:495-502,  2004.
  117. Maddalena A, Bale S, Das S, Grody W, Richards S. Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders Genetics in Medicine 7:571-583, 2005.
  118. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O’Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH.  Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 38(3):337-42, 2006.
  119. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O’Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 38(4):441-6, 2006.
  120. Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian V. An intronic mutation in DKC1 in an infant with Høyeraal – Hreidarsson Syndrome. Am J Med Genet (in press, 2008).
  121. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE. Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. (4):294-300 (2008).
  122. Leachman S, Hickerson R, Hull P, Smith F, Milstone L, Lane E, Bale S, Roop D, McLean W, Kaspar R. Therapeutic siRNAs for dominant genetic skin diseases including pachyonychia congenita. J Dermatol Sci (2008) doi:10.1016/j.jdermsci.2008.04.003
  123. Farasat S, Wei MH, Toure O, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. TGM1 mutations and genotype-phenotype investigations of 104 North American patients with ARCI in the National Registry for Ichthyosis and Related Disorders. J Med Genet, 2008 (in press).
  124. Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet. 2008 17:3919-28
  125. Das S, Bale SJ, Ledbetter DH. Molecular genetic testing for ultra rare diseases: models for translation from the research                                                 laboratory to the CLIA-certified diagnostic laboratory.Genet Med. 2008 10:332-6.
  126. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.Genet Med. 2008 Apr;10(4):294-300.
  127. Ferreira de Lima F, Hoper S; Ghassibe M, Cooper M, Rorick N, Kondo S, Katz L, Marazita M, Compton J, Bale S, Hehr U, Dixon M, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Cost A, Moretti-Ferreira D, Murray J, Schutte B. Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 cases of Van der Woude syndrome and 37 cases of popliteal pterygium syndrome. Genet Med. 2009 11(4):241-7.
  128. Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Álvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Hum Mutat. 2009 Jul 14. [Epub ahead of print]PMID: 19603532
  129. Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009 123:e871-7.
  130. Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Hum Mutat. 2009 30:537-47.
  131. Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat. 2009 30:E541-54.
  132. Tefferi A, Sirhan S, Sun Y, Lasho T, Finke CM, Weisberger J, Bale S, Compton J, LeDuc CA, Pardanani A, Thorland EC, Shevchenko Y, Grodman M, Chung WK. Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. Leuk Res. 2009  33:662-4.
  133. Rauen K, Tidyman W, Estep A, Sampath S, Peltier, H, Bale, SJ, Lacassie Y. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmisson through four generations (Am J Med Genet, submitted).
  134. Barker S, Bale S, Booker J, Buller A, Das S, Friedman, K et al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Molec Diagnostics 11:553-561, 2009.


Bale SJ. Genetics for Dermatologists. ReMedica Publishers, London England, 2000.