Joel Zlotogora

Articles in Scholarly Journals [Incomplete List]

  1. Prevention of lysosomal storage disorders in Israel
    Molecular Genetics and Metabolism, vol. 90, no. 4, pp. 353–357, 2007
  2. Multiple mutations responsible for frequent genetic diseases in isolated populations
    European Journal of Human Genetics, vol. 15, no. 3, Article ID 5201760, 6 pages, 2007
  3. Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community
    Genetics in Medicine, vol. 9, no. 3, pp. 180–184, 2007
  4. The Fate of 12 Recessive Mutations in A Single Village
    Annals of Human Genetics, vol. 71, no. 2, pp. 202–208, 2007
  5. High Incidence of Deafness from Three Frequent Connexin 26 Mutations in an Isolated Community
    Genetic Testing, vol. 10, no. 1, pp. 40–43, 2006
  6. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
    European Journal of Human Genetics, vol. 15, no. 2, Article ID 5201750, 3 pages, 2006
  7. Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community
    American Journal of Medical Genetics Part A, vol. 140A, no. 15, pp. 1644–1646, 2006
  8. Is there an increased birth defect risk to children born to offspring of first cousin parents?
    American Journal of Medical Genetics Part A, vol. 137A, no. 3, pp. 342–342, 2005
  9. Origin and expansion of four different beta globin mutations in a single Arab village
    American Journal of Human Biology, vol. 17, no. 5, pp. 659–661, 2005
  10. Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
    Human Molecular Genetics, vol. 14, no. 24, pp. 3911–3920, 2005
  11. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12
    Brain, vol. 128, no. 1, pp. 42–51, 2004
  12. Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles
    Human Genetics, vol. 114, no. 6, pp. 521–526, 2004
  13. Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations
    Hearing Research, vol. 175, no. 1-2, pp. 140–151, 2003
  14. The Possibility of a Selection Process in the Ashkenazi Jewish Population
    The American Journal of Human Genetics, vol. 73, no. 2, pp. 438–440, 2003
  15. High Incidence of Profound Deafness in an Isolated Community
    Genetic Testing, vol. 7, no. 2, pp. 143–145, 2003
  16. Penetrance and expressivity in the molecular age
    Genetics in Medicine, vol. 5, no. 5, pp. 347–352, 2003
  17. The functional consequences of mis-sense mutations affecting anintra-molecular salt bridge in arylsulphatase A
    Biochemical Journal, vol. 367, no. 2, p. 499, 2002
  18. A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
    Ophthalmic Genetics, vol. 23, no. 4, pp. 225–235, 2002
  19. Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test
    Prenatal Diagnosis, vol. 22, no. 12, pp. 1102–1106, 2002
  20. Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
    Genetics in Medicine, vol. 3, no. 5, pp. 343–348, 2001
  21. Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy
    American Journal of Medical Genetics, vol. 91, no. 1, pp. 68–73, 2000
  22. Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village
    American Journal of Medical Genetics, vol. 92, no. 5, pp. 343–345, 2000
  23. Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
    The American Journal of Human Genetics, vol. 64, no. 2, pp. 651–653, 1999
  24. Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes
    The American Journal of Human Genetics, vol. 65, no. 4, pp. 974–983, 1999
  25. Prenatal testing for genetic disorders among Arabs
    Prenatal Diagnosis, vol. 18, no. 3, pp. 219–224, 1998
  26. An ambiguous inheritance
    American Journal of Medical Genetics, vol. 75, no. 2, pp. 125–125, 1998
  27. Selection for carriers of recessive diseases: A common phenomenon?
    American Journal of Medical Genetics, vol. 80, no. 3, pp. 266–268, 1998
  28. Dominance and homozygosity
    American Journal of Medical Genetics, vol. 68, no. 4, pp. 412–416, 1997
  29. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity
    American Journal of Medical Genetics, vol. 68, no. 4, pp. 472–475, 1997
  30. Genetic disorders among Palestinian Arabs. 2. Hydrocephalus and neural tube defects
    American Journal of Medical Genetics, vol. 71, no. 1, pp. 33–35, 1997
  31. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations
    Human Molecular Genetics, vol. 6, no. 12, pp. 2163–2172, 1997
  32. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
    Human Molecular Genetics, vol. 6, no. 5, pp. 689–694, 1997
  33. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
    Human Genetics, vol. 97, no. 3, pp. 304–308, 1996
  34. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy
    Human Mutation, vol. 7, no. 4, pp. 311–317, 1996
  35. Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2
    American Journal of Medical Genetics, vol. 64, no. 1, pp. 83–88, 1996
  36. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews
    Human Mutation, vol. 5, no. 2, pp. 137–143, 1995
  37. Prenatal exclusion of stickler syndrome
    Prenatal Diagnosis, vol. 14, no. 2, pp. 145–147, 1994
  38. Molecular genetics of metachromatic leukodystrophy
    Human Mutation, vol. 4, no. 4, pp. 233–242, 1994
  39. Autosomal recessive colobomatous microphthalmia
    American Journal of Medical Genetics, vol. 49, no. 3, pp. 261–262, 1994
  40. Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype
    American Journal of Medical Genetics, vol. 52, no. 2, pp. 146–150, 1994
  41. Mutations in von Recklinghausen neurofibromatosis: An hypothesis
    American Journal of Medical Genetics, vol. 46, no. 2, pp. 182–184, 1993
  42. Isochromosome 18p in a mother and her child
    American Journal of Medical Genetics, vol. 46, no. 4, pp. 392–393, 1993
  43. Kohlschütter-Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta
    American Journal of Medical Genetics, vol. 46, no. 4, pp. 453–454, 1993
  44. Jancar syndrome: Mental retardation, spasticity, and distal transverse limbs defects
    American Journal of Medical Genetics, vol. 47, no. 1, pp. 89–90, 1993
  45. Gerodermia osteodysplastica: Report on two patients and surgical correction of facial deformity
    American Journal of Medical Genetics, vol. 47, no. 2, pp. 261–267, 1993
  46. Syndrome of tetraamelia with pulmonary hypoplasia
    American Journal of Medical Genetics, vol. 47, no. 4, pp. 570–571, 1993
  47. Autosomal dominant inheritance of Klein-Waardenburg syndrome
    American Journal of Medical Genetics, vol. 42, no. 3, pp. 320–322, 1992
  48. Variability of Stickler syndrome
    American Journal of Medical Genetics, vol. 42, no. 3, pp. 337–339, 1992
  49. Anorectal anomalies and Down Syndrome
    American Journal of Medical Genetics, vol. 39, no. 4, pp. 493–493, 1991
  50. Problems in diagnosis and delineation of inherited disorders in highly inbred populations
    American Journal of Medical Genetics, vol. 41, no. 4, pp. 451–453, 1991
  51. Prevalence of inflammatory bowel disease in family members of Jewish Crohn's disease patients in Israel
    Digestive Diseases and Sciences, vol. 36, no. 4, pp. 471–475, 1991
  52. Female infant affected with an X-linked disease
    The Journal of Pediatrics, vol. 119, no. 4, pp. 674–674, 1991
  53. Are individuals born as twins at a higher risk of developing Crohn's disease?
    Gut, vol. 30, no. 1, pp. 141–142, 1989
  54. Gaucher disease type I and pregnancy
    American Journal of Medical Genetics, vol. 32, no. 4, pp. 475–477, 1989
  55. Anorectal malformations and Down syndrome
    American Journal of Medical Genetics, vol. 34, no. 3, pp. 330–331, 1989
  56. Fetal Duodenal Obstruction: A high risk indicator for Down's syndrome
    Acta Obstetricia et Gynecologica Scandinavica, vol. 67, no. 5, pp. 465–466, 1988
  57. Familial situs inversus and congenital heart defects
    American Journal of Medical Genetics, vol. 26, no. 1, pp. 181–184, 1987
  58. Mental retardation, spasticity, and transverse limb defects
    American Journal of Medical Genetics, vol. 26, no. 1, pp. 221–223, 1987
  59. Intrafamilial variability in lysosomal storage diseases
    American Journal of Medical Genetics, vol. 27, no. 3, pp. 633–638, 1987
  60. Krabbe disease: Increased incidence in a highly inbred community
    American Journal of Medical Genetics, vol. 21, no. 4, pp. 765–770, 1985
  61. PSEUDODEFICIENCIES IN LYSOSOMAL STORAGE DISORDERS
    The Lancet, vol. 326, no. 8467, p. 1296, 1985
  62. Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele
    Human Genetics, vol. 71, no. 4, pp. 329–332, 1985
  63. Prenatal diagnosis of krabbe disease using a fluorescent derivative of galactosylceramide
    Clinica Chimica Acta, vol. 142, no. 3, pp. 313–318, 1984
  64. Heterozygote detection in hunter syndrome
    American Journal of Medical Genetics, vol. 17, no. 3, pp. 661–665, 1984
  65. Deficiency of lysosomal hydrolases in apparently healthy individuals
    American Journal of Medical Genetics, vol. 14, no. 1, pp. 73–80, 1983
  66. Problems in the clinical interpretation of arylsulfatase A deficiency
    American Journal of Medical Genetics, vol. 10, no. 4, pp. 413–415, 1981