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T. Conrad Gilliam

Professor
gilliam1@uchicago.edu
Research Summary
Marjorie I. and Bernard A. Mitchell Distinguished Service Professor of Human Genetics Dean for Basic Science, Biological Sciences Division My research focuses on the identification and characterization of heritable mutations that affect the nervous system. Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders using mouse models as well as genomic and bioinformatic approaches. I am collaborating with experts in data-mining and network topology, systems biology, large-scale computing, and statistical genetics to develop new approaches to map the multi-gene determinants of common neuropsychiatric disorders. By reducing possible gene-gene combinations to those documented in the literature or whole genome databases, we avoid the penalties of multiple-testing. We are also collaborating to build software solutions for large-scale data mining and data integration.
Education
  • University of Missouri, Columbia, MO, PhD Biochemistry 1981
  • University of London, Paddington, London, Post-doc Fellow Molecular Genetics 1983
  • Harvard Medical School, Boston, Post-doc Fellow Molecular Genetics 1985
Biosciences Graduate Program Association
Publications

  1. Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer. Mol Ther Methods Clin Dev. 2021 Sep 10; 22:360-376. View in: PubMed

  2. Molecular Interaction Network Approach (MINA) identifies association of novel candidate disease genes. MethodsX. 2019; 6:1286-1291. View in: PubMed

  3. Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources. Brief Bioinform. 2019 09 27; 20(5):1754-1768. View in: PubMed

  4. Chemokine expression in the early response to injury in human airway epithelial cells. PLoS One. 2018; 13(3):e0193334. View in: PubMed

  5. A p53-regulated apoptotic gene signature predicts treatment response and outcome in pediatric acute lymphoblastic leukemia. Cancer Manag Res. 2017; 9:397-410. View in: PubMed

  6. Lynx: a knowledge base and an analytical workbench for integrative medicine. Nucleic Acids Res. 2016 Jan 04; 44(D1):D882-7. View in: PubMed

  7. Disease gene prioritization using network and feature. J Comput Biol. 2015 Apr; 22(4):313-23. View in: PubMed

  8. An integrative computational approach for prioritization of genomic variants. PLoS One. 2014; 9(12):e114903. View in: PubMed

  9. Lynx web services for annotations and systems analysis of multi-gene disorders. Nucleic Acids Res. 2014 Jul; 42(Web Server issue):W473-7. View in: PubMed

  10. High-throughput translational medicine: challenges and solutions. Adv Exp Med Biol. 2014; 799:39-67. View in: PubMed

  11. Lynx: a database and knowledge extraction engine for integrative medicine. Nucleic Acids Res. 2014 Jan; 42(Database issue):D1007-12. View in: PubMed

  12. Fine mapping of candidate regions for bipolar disorder provides strong evidence for susceptibility loci on chromosomes 7q. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar; 156(2):168-76. View in: PubMed

  13. Changing the landscape of autism research: the autism genetic resource exchange. Neuron. 2010 Oct 21; 68(2):187-91. View in: PubMed

  14. Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR). Mol Psychiatry. 2010 Feb; 15(2):166-76. View in: PubMed

  15. Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res. 2008 Jul; 18(7):1150-62. View in: PubMed

  16. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7. View in: PubMed

  17. Rapid selection response for contextual fear conditioning in a cross between C57BL/6J and A/J: behavioral, QTL and gene expression analysis. Behav Genet. 2008 May; 38(3):277-91. View in: PubMed

  18. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008 Feb 15; 17(4):628-38. View in: PubMed

  19. Genetic architecture of fear conditioning in chromosome substitution strains: relationship to measures of innate (unlearned) anxiety-like behavior. Mamm Genome. 2007 Apr; 18(4):221-8. View in: PubMed

  20. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View in: PubMed

  21. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28. View in: PubMed

  22. Selection for contextual fear conditioning affects anxiety-like behaviors and gene expression. Genes Brain Behav. 2007 Nov; 6(8):736-49. View in: PubMed

  23. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet. 2007 Feb; 80(2):316-28. View in: PubMed

  24. DRD2 C957T polymorphism interacts with the COMT Val158Met polymorphism in human working memory ability. Schizophr Res. 2007 Feb; 90(1-3):104-7. View in: PubMed

  25. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am J Pathol. 2006 Feb; 168(2):423-34. View in: PubMed

  26. Genome-wide linkage scan in a large bipolar disorder sample from the National Institute of Mental Health genetics initiative suggests putative loci for bipolar disorder, psychosis, suicide, and panic disorder. Mol Psychiatry. 2006 Mar; 11(3):252-60. View in: PubMed

  27. Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism. Psychiatr Genet. 2006 Feb; 16(1):31-4. View in: PubMed

  28. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet. 2005 Oct; 77(4):582-95. View in: PubMed

  29. Psychosis and the genetic spectrum of bipolar disorder: evidence from linkage analysis. Mol Psychiatry. 2006 Jan; 11(1):3-5. View in: PubMed

  30. Gene expression differences in mice divergently selected for methamphetamine sensitivity. Mamm Genome. 2005 May; 16(5):291-305. View in: PubMed

  31. Catechol-O-methyltransferase (COMT) genotypes and working memory: associations with differing cognitive operations. Biol Psychiatry. 2005 Dec 01; 58(11):901-7. View in: PubMed

  32. Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Mol Psychiatry. 2005 Aug; 10(8):747-57. View in: PubMed

  33. Absence of psychosis may influence linkage results for bipolar disorder. Mol Psychiatry. 2005 Mar; 10(3):235-7. View in: PubMed

  34. Molecular triangulation: bridging linkage and molecular-network information for identifying candidate genes in Alzheimer's disease. Proc Natl Acad Sci U S A. 2004 Oct 19; 101(42):15148-53. View in: PubMed

  35. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet. 2004 Dec; 75(6):1117-23. View in: PubMed

  36. Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. Cytogenet Genome Res. 2004; 107(1-2):68-76. View in: PubMed

  37. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord. 2004 Aug; 19(8):930-3. View in: PubMed

  38. Large-scale copy number polymorphism in the human genome. Science. 2004 Jul 23; 305(5683):525-8. View in: PubMed

  39. Linkage analysis of psychosis in bipolar pedigrees suggests novel putative loci for bipolar disorder and shared susceptibility with schizophrenia. Mol Psychiatry. 2004 Dec; 9(12):1091-9. View in: PubMed

  40. Population-based study of SR-BI genetic variation and lipid profile. Atherosclerosis. 2004 Jul; 175(1):159-68. View in: PubMed

  41. Altered hippocampal transcript profile accompanies an age-related spatial memory deficit in mice. Learn Mem. 2004 May-Jun; 11(3):253-60. View in: PubMed

  42. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2004 Apr 13; 62(7):1120-6. View in: PubMed

  43. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet. 2003 Dec; 40(12):872-8. View in: PubMed

  44. Digital genotyping using molecular affinity and mass spectrometry. Nat Rev Genet. 2003 Dec; 4(12):1001-8. View in: PubMed

  45. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav. 2003 Oct; 2(5):303-20. View in: PubMed

  46. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet. 2003 Oct; 73(4):886-97. View in: PubMed

  47. Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors. Hum Mol Genet. 2003 Nov 01; 12(21):2733-43. View in: PubMed

  48. Inducible enhancement of memory storage and synaptic plasticity in transgenic mice expressing an inhibitor of ATF4 (CREB-2) and C/EBP proteins. Neuron. 2003 Aug 14; 39(4):655-69. View in: PubMed

  49. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet. 2003 Jul; 73(1):49-62. View in: PubMed

  50. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18; 113(2):249-60. View in: PubMed

  51. Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait? Genet Epidemiol. 2003 May; 24(4):309-21. View in: PubMed

  52. Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol Psychiatry. 2003 Mar; 8(3):333-42. View in: PubMed

  53. Optimal step length EM algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping. BMC Bioinformatics. 2003 Jan 15; 4:3. View in: PubMed

  54. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia. 2002 Jan; 43(1):60-7. View in: PubMed

  55. EB simplex superficialis resulting from a mutation in the type VII collagen gene. J Invest Dermatol. 2002 Mar; 118(3):547-9. View in: PubMed

  56. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002 Mar; 30(3):335-41. View in: PubMed

  57. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet. 2002 Jan; 70(1):60-71. View in: PubMed

  58. Genomewide linkage analysis of celiac disease in Finnish families. Am J Hum Genet. 2002 Jan; 70(1):51-9. View in: PubMed

  59. A genomewide screen for autism susceptibility loci. Am J Hum Genet. 2001 Aug; 69(2):327-40. View in: PubMed

  60. A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22. Am J Med Genet. 2001 Mar 08; 105(2):189-94. View in: PubMed

  61. Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. Eur J Hum Genet. 2000 May; 8(5):381-4. View in: PubMed

  62. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. Exp Dermatol. 2000 Apr; 9(2):157-62. View in: PubMed

  63. Mapping complex traits in diseases of the hair and skin. Exp Dermatol. 1999 Dec; 8(6):439-52. View in: PubMed

  64. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct; 23(2):233-6. View in: PubMed

  65. Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J Biol Chem. 1999 Oct 01; 274(40):28497-504. View in: PubMed

  66. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet. 1999 Sep; 8(9):1665-71. View in: PubMed

  67. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci. 1999 Aug; 40(9):2106-14. View in: PubMed

  68. Cloning and genomic organization of beclin 1, a candidate tumor suppressor gene on chromosome 17q21. Genomics. 1999 Jul 01; 59(1):59-65. View in: PubMed

  69. A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet. 1999 Jan; 64(1):210-7. View in: PubMed

  70. Differential SMN2 expression associated with SMA severity. Nat Genet. 1998 Nov; 20(3):230-1. View in: PubMed

  71. Results of a genome-wide genetic screen for panic disorder. Am J Med Genet. 1998 Mar 28; 81(2):139-47. View in: PubMed

  72. Arm tremor secondary to Wilson's disease. Mov Disord. 1998 Mar; 13(2):351-3. View in: PubMed

  73. No evidence for significant linkage between bipolar affective disorder and chromosome 18 pericentromeric markers in a large series of multiplex extended pedigrees. Am J Hum Genet. 1998 Apr; 62(4):916-24. View in: PubMed

  74. Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics. 1998 Mar 01; 48(2):171-7. View in: PubMed

  75. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet. 1998 Feb; 18(2):177-9. View in: PubMed

  76. Heterologous expression of the metal-binding domains of human copper-transporting ATPases (P1-ATPases). Ann N Y Acad Sci. 1997 Nov 03; 834:155-7. View in: PubMed

  77. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res. 1997 Sep; 7(9):887-96. View in: PubMed

  78. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997 Aug; 61(2):317-28. View in: PubMed

  79. Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. Biochem J. 1997 Sep 15; 326 ( Pt 3):897-902. View in: PubMed

  80. Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues. Ann Neurol. 1997 Jul; 42(1):41-9. View in: PubMed

  81. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet. 1997 Feb; 6(2):229-36. View in: PubMed

  82. An international symposium on Wilson's and Menkes' diseases. Hepatology. 1996 Oct; 24(4):952-8. View in: PubMed

  83. Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet. 1996 Mar; 5(3):359-65. View in: PubMed

  84. Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. Genome Res. 1996 May; 6(5):351-60. View in: PubMed

  85. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol. 1996 Apr; 39(4):507-20. View in: PubMed

  86. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics. 1993 Feb; 15(2):365-71. View in: PubMed

  87. A microsatellite genetic linkage map of human chromosome 13. Genomics. 1993 Jan; 15(1):76-85. View in: PubMed

  88. High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum Mol Genet. 1993 Aug; 2(8):1169-76. View in: PubMed

  89. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet. 1993 Dec; 5(4):386-91. View in: PubMed

  90. Progress toward cloning of the gene responsible for childhood spinal muscular atrophy. Semin Neurol. 1993 Sep; 13(3):276-82. View in: PubMed

  91. Molecular and statistical approaches to the detection and correction of errors in genotype databases. Am J Hum Genet. 1993 Nov; 53(5):1137-45. View in: PubMed

  92. Report of the first international workshop on human chromosome 18 mapping. Cytogenet Cell Genet. 1993; 63(2):78-96. View in: PubMed

  93. A genetic linkage map of the chromosome 4 short arm. Somat Cell Mol Genet. 1993 Jan; 19(1):95-101. View in: PubMed

  94. A microsatellite genetic linkage map of human chromosome 18. Genomics. 1993 Jan; 15(1):48-56. View in: PubMed

  95. An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. Genomics. 1994 May 01; 21(1):27-33. View in: PubMed

  96. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Genet. 1994 Aug; 3(8):1401-3. View in: PubMed

  97. Bipolar disorder and linkage to Xq28. Nat Genet. 1994 Aug; 7(4):461-2. View in: PubMed

  98. Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered. 1993 Nov-Dec; 43(6):380-7. View in: PubMed

  99. Genetic disorders of copper metabolism. Curr Opin Pediatr. 1994 Dec; 6(6):698-701. View in: PubMed

  100. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet. 1994 Sep; 3(9):1647-56. View in: PubMed

  101. Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy. Am J Hum Genet. 1995 Jan; 56(1):210-5. View in: PubMed

  102. Genetic alterations of microsatellites on chromosome 18 in human breast carcinoma. Diagn Mol Pathol. 1995 Mar; 4(1):66-72. View in: PubMed

  103. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci U S A. 1995 Apr 25; 92(9):3702-6. View in: PubMed

  104. Autosomal dominant distal spinal muscular atrophy in four generations. Neurology. 1995 Apr; 45(4):699-704. View in: PubMed

  105. Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet. 1995 Aug; 57(2):499-502. View in: PubMed

  106. Is the spinal muscular atrophy gene found? Nat Med. 1995 Feb; 1(2):124-7. View in: PubMed

  107. The implications of genetic variation in human pathology. Biochem Soc Symp. 1984; 49:183-8. View in: PubMed

  108. Isolation of multiple genomic sequences coding for chicken myosin heavy chain protein. J Biol Chem. 1982 Jan 10; 257(1):549-56. View in: PubMed

  109. Cystic fibrosis is not caused by a defect in the gene coding for human complement C3. Mol Biol Med. 1983 Sep; 1(2):185-90. View in: PubMed

  110. The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet. 1984; 68(2):154-8. View in: PubMed

  111. DNA markers for nervous system diseases. Science. 1984 Sep 21; 225(4668):1320-6. View in: PubMed

  112. Genetic linkage analysis of neurofibromatosis with DNA markers. Ann N Y Acad Sci. 1986; 486:304-10. View in: PubMed

  113. Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum Genet. 1985; 69(3):250-4. View in: PubMed

  114. Molecular genetics of human chromosome 4. J Med Genet. 1986 Jun; 23(3):193-9. View in: PubMed

  115. Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res. 1988 Dec 23; 16(24):11769-80. View in: PubMed

  116. Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proc Natl Acad Sci U S A. 1988 Sep; 85(17):6437-41. View in: PubMed

  117. Pairwise linkage analysis of 11 loci on human chromosome 4. Am J Hum Genet. 1988 Mar; 42(3):490-7. View in: PubMed

  118. Molecular genetic strategies to investigate Huntington's disease. Adv Neurol. 1988; 48:17-29. View in: PubMed

  119. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science. 1987 Nov 13; 238(4829):950-2. View in: PubMed

  120. A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1987 Sep; 1(1):29-34. View in: PubMed

  121. A human anonymous low copy number clone, 4c11 (D6S4), localized to 6p12-6p21, detects 2 RFLPs, one of which is moderately polymorphic. Nucleic Acids Res. 1987 Jul 24; 15(14):5902. View in: PubMed

  122. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 1987 Aug 14; 50(4):565-71. View in: PubMed

  123. Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64. View in: PubMed

  124. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25; 15(4):1445-58. View in: PubMed

  125. Physical mapping, linkage analysis of a putative schizophrenia locus on chromosome 5q. Schizophr Bull. 1989; 15(3):441-52. View in: PubMed

  126. Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia. Genomics. 1989 Nov; 5(4):940-4. View in: PubMed

  127. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene. Genomics. 1989 Nov; 5(4):802-9. View in: PubMed

  128. Report of a workshop on genetic linkage studies in schizophrenia. Schizophr Bull. 1990; 16(4):673-86. View in: PubMed

  129. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28; 345(6278):823-5. View in: PubMed

  130. Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Proc Natl Acad Sci U S A. 1991 Sep 01; 88(17):7873-6. View in: PubMed

  131. Genetic analysis of childhood-onset spinal muscular atrophy. Adv Neurol. 1991; 56:181-7. View in: PubMed

  132. Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus. Neurology. 1991 Sep; 41(9):1418-22. View in: PubMed

  133. Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. Ann Neurol. 1991 Feb; 29(2):124-31. View in: PubMed

  134. Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics. 1992 Apr; 12(4):710-4. View in: PubMed

  135. Identification and localization of microsatellite markers covering human chromosome 18. Genomics. 1992 Dec; 14(4):1095-7. View in: PubMed

  136. Perils of gene mapping with microsatellite markers. Am J Hum Genet. 1992 Oct; 51(4):905-9. View in: PubMed

  137. Mapping psychiatric disease genes: impact of new molecular strategies. J Psychiatr Res. 1992 Oct; 26(4):309-26. View in: PubMed

  138. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 1992 Dec; 2(4):315-7. View in: PubMed

  139. Dinucleotide repeat polymorphism at the D4S251 locus. Hum Mol Genet. 1992 Aug; 1(5):349. View in: PubMed

  140. Dinucleotide repeat polymorphism at the D19S206 locus. Hum Mol Genet. 1992 Sep; 1(6):454. View in: PubMed

  141. Dinucleotide repeat polymorphism at the D1S182 locus. Hum Mol Genet. 1992 Sep; 1(6):454. View in: PubMed

  142. N-terminal domains of human Cu-transporting ATPases (the Wilson’s and Menkes disease proteins) bind Cu selectively in vivo and in vitro with stoichiometry of one Cu per metal-binding repeat. Journal of Biological Chemistry. 1997; 272:18939-18944.::::

  143. Physical mapping, cloning, and genetic characterization of the Wilson disease locus. Nature Genetics. 1993; 5:338-343.::::

  144. Genetic mapping of chronic childhood-onset Spinal Muscular Atrophy to Chromosome 5q11.2-13.3. Nature. 1990; 344:540-541.::::

  145. Strategic Integration of Multiple Bioinformatics Resources for System Level Analysis of Biological Networks. Methods Mol Biol. 2017; 1613:85-89.::::

  146. Noninvasive prenatal diagnosis of chromosomal anueploidies by isolation and analysis of fetal cells from maternal blood. Amer. J. of Med. Genet. 2001; 101:262-267.::::

  147. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes Disease gene. Nature Genetics. 1993; 5:344-350.::::

  148. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am J Pathol. 2006; 168(2):423-434.::::

  149. Identification of novel susceptibility genes associated with seven autoimmune disorders using whole genome molecular interaction networks. J Autoimmun. 2019; 97:48-58.::::
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