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Articles in Scholarly Journals [Incomplete List]

1. A modular approach for integrative analysis of large-scale gene-expression and drug-response data
   Nature Biotechnology, vol. 26, no. 5, Article ID nbt1397, 8 pages, 2008
2. Genome-wide association analysis identifies 20 loci that influence adult height
   Nature Genetics, vol. 40, no. 5, Article ID ng.121, 8 pages, 2008
3. IEEE/ACM Transactions on Computational Biology and Bioinformatics, vol. 5, no. 1, pp. 101–109, 2008
4. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
   Journal of Clinical Investigation, vol. 118, no. 4, pp. 1519–1531, 2008
5. In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1
   PLoS Biology, vol. 6, no. 2, p. e32, 2008
6. Blocking Apoptotic Intracellular Signaling Cascades with Cell-Permeable Peptides
   Current Signal Transduction Therapy, vol. 2, no. 2, pp. 175–179, 2007
7. AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia
   European Journal of Human Genetics, vol. 15, no. 3, Article ID 5201794, 1 pages, 2007
8. Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells
   Nature Methods, vol. 4, no. 9, Article ID nmeth1076, 6 pages, 2007
9. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
   Nature Reviews Genetics, vol. 8, no. 8, Article ID nrg2149, 7 pages, 2007
10. SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status
    Molecular and Cellular Neuroscience, vol. 35, no. 4, pp. 525–534, 2007
11. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)
    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol. 1772, no. 2, pp. 128–144, 2007
12. Cell-permeable peptides induce dose- and length-dependent cytotoxic effects
    Biochimica et Biophysica Acta (BBA) - Biomembranes, vol. 1768, no. 9, pp. 2222–2234, 2007
13. The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males
    Human Genetics, vol. 120, no. 4, pp. 447–459, 2006
14. Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity
    American Journal of Medical Genetics Part A, vol. 140A, no. 7, pp. 769–774, 2006
15. Identification of putativein vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice
    PROTEOMICS, vol. 6, no. 22, pp. 6075–6084, 2006
16. Mendelian disorders deserve more attention
    Nature Reviews Genetics, vol. 7, no. 4, Article ID nrg1826, 5 pages, 2006
17. A unique set of SH3–SH3 interactions controls IB1 homodimerization
    The EMBO Journal, vol. 25, no. 4, Article ID 7600982, 12 pages, 2006
18. AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia
    European Journal of Human Genetics, vol. 14, no. 10, Article ID 5201675, 8 pages, 2006
19. Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)
    Annals of Human Genetics, vol. 70, no. 3, pp. 414–416, 2006
20. Homogeneous and Nonradioactive High-Throughput Screening Platform for the Characterization of Kinase Inhibitors in Cell Lysates
    Journal of Biomolecular Screening, vol. 11, no. 8, pp. 1015–1026, 2006
21. Use of a Combined Ex Vivo/In Vivo Population Approach for Screening of Human Genes Involved in the Human Immunodeficiency Virus Type 1 Life Cycle for Variants Influencing Disease Progression
    Journal of Virology, vol. 79, no. 20, pp. 12674–12680, 2005
22. Analysis of Genetic Polymorphisms in Acetylcholinesterase as Reflected in Different Populations
    Current Alzheimer Research, vol. 2, no. 2, pp. 207–218, 2005
23. Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy
    The American Journal of Human Genetics, vol. 76, no. 3, pp. 510–516, 2005
24. FoldIndex(C): a simple tool to predict whether a given protein sequence is intrinsically unfolded
    Bioinformatics, vol. 21, no. 16, pp. 3435–3438, 2005
25. Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval
    European Journal of Human Genetics, vol. 13, no. 6, Article ID 5201406, 8 pages, 2005
26. Typing without calling the allele: a strategy for inferring SNP haplotypes
    European Journal of Human Genetics, vol. 13, no. 8, Article ID 5201440, 3 pages, 2005
27. The trace amine receptor 4 gene is not associated with schizophrenia in a sample linked to chromosome 6q23
    Molecular Psychiatry, vol. 11, no. 2, Article ID 4001752, 2 pages, 2005
28. On ubiquitin ligases and cancer
    Human Mutation, vol. 25, no. 6, pp. 507–512, 2005
29. A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene
    Human Mutation, vol. 24, no. 5, pp. 408–416, 2004
30. Circadian regulation of islet genes involved in insulin production and secretion
    Molecular and Cellular Endocrinology, vol. 226, no. 1-2, pp. 59–66, 2004
31. Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity
    Genes and Immunity, vol. 5, no. 6, Article ID 6364117, 11 pages, 2004
32. Recovering Frequencies of Known Haplotype Blocks From Single-Nucleotide Polymorphism Allele Frequencies
    Genetics, vol. 166, no. 4, pp. 2001–2006, 2004
33. Intracellular Stress Signaling Pathways Activated During Human Islet Preparation and Following Acute Cytokine Exposure
    Diabetes, vol. 53, no. 11, pp. 2815–2823, 2004
34. HLA and HIV: modeling adaptation to moving targets
    The Pharmacogenomics Journal, vol. 3, no. 5, Article ID 6500200, 2 pages, 2003
35. Calcium- and Proteasome-dependent Degradation of the JNK Scaffold Protein Islet-brain 1
    Journal of Biological Chemistry, vol. 278, no. 49, pp. 48720–48726, 2003
36. Calpain 3 cleaves filamin C and regulates its ability to interact with ?- and ?-sarcoglycans
    Muscle & Nerve, vol. 28, no. 4, pp. 472–483, 2003
37. Proteomic signatures: Amino acid and oligopeptide compositions differentiate among phyla
    Proteins: Structure, Function, and Bioinformatics, vol. 54, no. 1, pp. 20–40, 2003
38. CATSPER2, a human autosomal nonsyndromic male infertility gene
    European Journal of Human Genetics, vol. 11, no. 7, Article ID 5200991, 5 pages, 2003
39. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002
    Neuromuscular Disorders, vol. 13, no. 1, pp. 80–90, 2003
40. Journal of Muscle Research and Cell Motility, vol. 23, no. 3, pp. 255–264, 2002
41. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    European Journal of Human Genetics, vol. 10, no. 6, pp. 339–350, 2002
42. Stable expression of calpain 3 from a muscle transgene in vivo: Immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation
    Proceedings of the National Academy of Sciences, vol. 99, no. 13, pp. 8874–8879, 2002
43. A Highly Significant Association between a COMT Haplotype and Schizophrenia
    The American Journal of Human Genetics, vol. 71, no. 6, pp. 1296–1302, 2002
44. Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
    The American Journal of Human Genetics, vol. 71, no. 6, pp. 1467–1474, 2002
45. Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle
    The Journal of Physiology, vol. 543, no. 1, pp. 297–306, 2002
46. Pharmacogenetic development of personalized medicine: Multiple sclerosis treatment as a model
    Drug News & Perspectives, vol. 15, no. 9, p. 558, 2002
47. A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16
    The American Journal of Human Genetics, vol. 68, no. 1, pp. 241–246, 2001
48. Nature Genetics, vol. 29, no. 1, pp. 83–87, 2001
49. Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A
    Mechanisms of Development, vol. 103, no. 1-2, pp. 121–125, 2001
50. Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IκBα/NF-κB survival pathway in skeletal muscle
    Journal of Molecular Medicine, vol. 79, no. 5-6, pp. 254–261, 2001
51. The Region on 9p Associated with 46,XY Sex Reversal Contains Several Transcripts Expressed in the Urogenital System and a Novel Doublesex-Related Domain
    Genomics, vol. 64, no. 2, pp. 170–178, 2000
52. A First High-Density Map of 981 Biallelic Markers on Human Chromosome 14
    Genomics, vol. 70, no. 2, pp. 153–164, 2000
53. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
    Neuromuscular Disorders, vol. 10, no. 8, pp. 553–559, 2000
54. Calpain3 expression during human cardiogenesis
    Neuromuscular Disorders, vol. 10, no. 4-5, pp. 251–256, 2000
55. Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features
    Brain, vol. 123, no. 6, pp. 1229–1237, 2000
56. Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes
    Human Molecular Genetics, vol. 9, no. 2, pp. 165–173, 2000
57. Corrigendum
    Human Molecular Genetics, vol. 9, no. 4, pp. 659–659, 2000
58. Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-associated IkappaBalpha/Nuclear Factor kappaB Pathway Perturbation in Mice
    The Journal of Cell Biology, vol. 151, no. 7, pp. 1583–1590, 2000
59. Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel
    The American Journal of Human Genetics, vol. 66, no. 2, pp. 733–739, 2000
60. Calpainopathy—A Survey of Mutations and Polymorphisms
    The American Journal of Human Genetics, vol. 64, no. 6, pp. 1524–1540, 1999
61. Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
    The American Journal of Human Genetics, vol. 65, no. 4, pp. 1054–1059, 1999
62. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis
    Proceedings of the National Academy of Sciences, vol. 96, no. 19, pp. 10729–10734, 1999
63. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
    Human Molecular Genetics, vol. 8, no. 3, pp. 409–412, 1999
64. Dysferlin is a plasma membrane protein and is expressed early in human development [published erratum appears in Hum Mol Genet 1999 Jun;8(6):1141]
    Human Molecular Genetics, vol. 8, no. 5, pp. 855–861, 1999
65. Corrigendum
    Human Molecular Genetics, vol. 8, no. 6, pp. 1141–1141, 1999
66. Disease taxonomy - monogenic muscular dystrophy
    British Medical Bulletin, vol. 55, no. 2, pp. 340–357, 1999
67. Nature Medicine, vol. 5, no. 7, pp. 849–849, 1999
68. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
    Neuromuscular Disorders, vol. 9, no. 8, pp. 555–563, 1999
69. 66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands
    Neuromuscular Disorders, vol. 9, no. 6-7, pp. 436–445, 1999
70. Nature Medicine, vol. 5, no. 5, pp. 503–511, 1999
71. Nature Genetics, vol. 22, no. 2, pp. 178–181, 1999
72. Purification and Identification of Two Putative Autolytic Sites in Human Calpain 3 (p94) Expressed in Heterologous Systems
    Archives of Biochemistry and Biophysics, vol. 363, no. 2, pp. 237–245, 1999
73. Structure, Genetic Localization, and Identification of the Cardiac and Skeletal Muscle Transcripts of the Human Integrin α7 Gene (ITGA7),
    Biochemical and Biophysical Research Communications, vol. 260, no. 2, pp. 357–364, 1999
74. Studies on Calpain Expression during Differentiation of Rat Satellite Cells in Primary Cultures in the Presence of Heparin or a Mimic Compound
    Experimental Cell Research, vol. 252, no. 2, pp. 392–400, 1999
75. Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
    Annals of Neurology, vol. 45, no. 2, pp. 182–188, 1999
76. Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
    Muscle & Nerve, vol. 21, no. 8, pp. 1078–1080, 1998
77. Recommendations for a nomenclature system for human gene mutations
    Human Mutation, vol. 11, no. 1, pp. 1–3, 1998
78. Expression of Genes (CAPN3, SGCA, SGCB, and TTN) Involved in Progressive Muscular Dystrophies during Early Human Development
    Genomics, vol. 48, no. 2, pp. 145–156, 1998
79. Nature Genetics, vol. 20, no. 1, pp. 37–42, 1998
80. Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally
    Immunity, vol. 9, no. 2, pp. 267–276, 1998
81. β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
    Neuromuscular Disorders, vol. 8, no. 1, pp. 30–38, 1998
82. Limb Girdle Muscular Dystrophy Type 2A (CAPN3): Mapping Using Allelic Association
    Human Heredity, vol. 48, no. 6, pp. 333–337, 1998
83. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)
    Brain, vol. 121, no. 9, pp. 1735–1747, 1998
84. Functional Defects of a Muscle-specific Calpain, p94, Caused by Mutations Associated with Limb-Girdle Muscular Dystrophy Type 2A
    Journal of Biological Chemistry, vol. 273, no. 27, pp. 17073–17078, 1998
85. Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31
    The American Journal of Human Genetics, vol. 63, no. 6, pp. 1732–1742, 1998
86. Calpain-3 Deficiency Causes a Mild Muscular Dystrophy in Childhood
    Neuropediatrics, vol. 28, no. 4, pp. 212–216, 1997
87. A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene
    Human Molecular Genetics, vol. 6, no. 9, pp. 1401–1408, 1997
88. Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
    Science, vol. 277, no. 5331, pp. 1518–1523, 1997
89. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
    Annals of Neurology, vol. 42, no. 2, pp. 222–229, 1997
90. Prenatal diagnosis of limb-girdle muscular dystrophy type 2A
    Neuromuscular Disorders, vol. 6, no. 3, pp. 173–176, 1996
91. Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human
    Mammalian Genome, vol. 7, no. 5, pp. 377–379, 1996
92. Identification of muscle-specific calpain and ?-sarcoglycan genes in progressive autosomal recessive muscular dystrophies
    Neuromuscular Disorders, vol. 6, no. 6, pp. 455–462, 1996
93. Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities
    Neuromuscular Disorders, vol. 6, no. 6, pp. 447–453, 1996
94. Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive
    Annales de l'Institut Pasteur/Actualités, vol. 7, no. 3, pp. 157–171, 1996
95. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
    Human Molecular Genetics, vol. 5, no. 12, pp. 2019–2022, 1996
96. Juvenile limb-girdle muscular dystrophy
    Brain, vol. 119, no. 1, pp. 295–308, 1996
97. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy
    Current Opinion in Neurology, vol. 9, no. 5, p. 389, 1996
98. A Gene Map of the Human Genome
    Science, vol. 274, no. 5287, pp. 540–546, 1996
99. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
    Nature Genetics, vol. 9, no. 4, Article ID ng0495-418, 5 pages, 1995
100. How neutral are synonymous codon mutations?
     Nature Genetics, vol. 10, no. 3, Article ID ng0795-259, 1 pages, 1995
101. β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
     Nature Genetics, vol. 11, no. 3, Article ID ng1195-257, 8 pages, 1995
102. Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
     Nature Genetics, vol. 11, no. 4, Article ID ng1295-438, 2 pages, 1995
103. An STS map of the limb girdle muscular dystrophy type 2A region
     Mammalian Genome, vol. 6, no. 10, pp. 754–756, 1995
104. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
     Cell, vol. 81, no. 1, pp. 27–40, 1995
105. Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1
     Genomics, vol. 25, no. 2, pp. 433–435, 1995
106. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies
     Neuromuscular Disorders, vol. 5, no. 1, pp. 71–74, 1995
107. 30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995
     Neuromuscular Disorders, vol. 5, no. 4, pp. 337–343, 1995
108. How is it that microsatellites and random oligonucleotides uncover DNA fingerprint patterns?
     Mammalian Genome, vol. 5, no. 9, pp. 525–530, 1994
109. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
     Cell, vol. 78, no. 4, pp. 625–633, 1994
110. Targeted Development of Microsatellite Markers from Inter-Alu Amplification of YAC Clones
     Genomics, vol. 19, no. 2, pp. 391–393, 1994
111. The Gene for the TATA Binding Protein (TBP) That Contains a Highly Polymorphic Protein Coding CAG Repeat Maps to 6q27
     Genomics, vol. 21, no. 3, pp. 667–668, 1994
112. Refined Mapping of a Gene (NPH1) Causing Familial Juvenile Nephronophthisis and Evidence for Genetic Heterogeneity
     Genomics, vol. 22, no. 2, pp. 296–301, 1994
113. Regional Localization of Human Chromosome 15 Loci
     Genomics, vol. 23, no. 3, pp. 619–627, 1994
114. The Gene for Creatine Kinase, Mitochondrial 2 (Sarcomeric; CKMT2), Maps to Chromosome 5q13.3
     Genomics, vol. 18, no. 1, pp. 134–136, 1993
115. DNA segments mapped by reciprocal use of microsatellite primers between mouse and rat
     Mammalian Genome, vol. 4, no. 10, pp. 571–576, 1993
116. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
     Nature Genetics, vol. 4, no. 3, Article ID ng0793-311, 2 pages, 1993
117. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
     Nature Genetics, vol. 3, no. 4, Article ID ng0493-342, 3 pages, 1993
118. Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats
     Nature Genetics, vol. 3, no. 4, Article ID ng0493-354, 3 pages, 1993
119. Familial Hyperglycemia Due to Mutations in Glucokinase -- Definition of a Subtype of Diabetes Mellitus
     New England Journal of Medicine, vol. 328, no. 10, pp. 697–702, 1993
120. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
     Journal of Clinical Investigation, vol. 92, no. 6, pp. 2807–2813, 1993
121. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
     Nature, vol. 356, no. 6365, Article ID 356162a0, 2 pages, 1992
122. Mapping of two chromosome 15 microsatellites
     Genomics, vol. 13, no. 3, pp. 903–904, 1992
123. Survey of human and rat microsatellites
     Genomics, vol. 12, no. 4, pp. 627–631, 1992
124. Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats
     Nature, vol. 353, no. 6344, Article ID 353521a0, 8 pages, 1991
125. Oligonucleotide Polymorphisms: A New Tool for Genomic Genetics
     Bio/Technology, vol. 6, no. 9, Article ID nbt0988-1061, 3 pages, 1988
126. Elevated amounts of methotrexate-binding protein, different from normal dihydrofolate reductase, in a petunia MTXR-cell line
     Plant Molecular Biology, vol. 8, no. 1, pp. 87–94, 1987