Arthur L Beaudet

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc The utility of chromosomal microarray analysis in developmental and behavioral pediatrics
    Arthur L Beaudet
    Baylor College of Medicine
    Child Dev 84:121-32. 2013
  2. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
  3. pmc Allan Award lecture: Rare patients leading to epigenetics and back to genetics
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Am J Hum Genet 82:1034-8. 2008
  4. pmc High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
    Larissa R Stewart
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA
    BMC Med Genet 12:154. 2011
  5. pmc Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Genome Med 2:42. 2010
  6. pmc Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
  7. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
  8. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
  9. ncbi request reprint Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:732-40. 2007
  10. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008

Detail Information

Publications73

  1. pmc The utility of chromosomal microarray analysis in developmental and behavioral pediatrics
    Arthur L Beaudet
    Baylor College of Medicine
    Child Dev 84:121-32. 2013
    ..CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities...
  2. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
    ..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay...
  3. pmc Allan Award lecture: Rare patients leading to epigenetics and back to genetics
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Am J Hum Genet 82:1034-8. 2008
  4. pmc High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
    Larissa R Stewart
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA
    BMC Med Genet 12:154. 2011
    ..We hypothesized that cases with both schizophrenia and epilepsy would have a higher frequency of disease-associated CNVs and would represent an enriched sample for detection of other mutations associated with schizophrenia...
  5. pmc Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Genome Med 2:42. 2010
    ..There are substantive concerns about offering SNP or CNV genotyping direct to consumers without a physician or counselor to provide guidance for interpretation of the results...
  6. pmc Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
    ..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances...
  7. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
    ..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
  8. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
    ....
  9. ncbi request reprint Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:732-40. 2007
    ..Using a low, clinically relevant vector dose, this minimally invasive method results in high-efficiency hepatic transduction with minimal toxicity and stable long-term transgene expression for at least 413 days...
  10. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008
    ..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region...
  11. ncbi request reprint Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 32:10-20. 2012
    ..Our objective is to develop a reliable array comparative genomic hybridization (CGH) platform to detect genomic imbalances as small as ~1Mb ina single cell...
  12. pmc Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:840-50. 2010
    ..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders...
  13. doi request reprint 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 155:1272-80. 2011
    ..Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems...
  14. pmc Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 29:29-39. 2009
    ..To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa...
  15. pmc Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates
    Nicola Brunetti-Pierri
    1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Mol Ther 17:327-33. 2009
    ..These results suggest that our minimally invasive method of delivery can significantly improve the vector's therapeutic index and may be a first step toward clinical application of HDAd for liver-directed gene therapy...
  16. doi request reprint Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 29:1100-7. 2008
    ....
  17. pmc Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
    Xin Yan Lu
    Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Pediatrics 122:1310-8. 2008
    ..Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis...
  18. pmc Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Mol Diagn 11:226-37. 2009
    ....
  19. pmc Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Natl Cancer Inst 100:1247-59. 2008
    ..The involvement of two chromatin remodeling genes, retinoblastoma-binding protein 1 (Rbbp1/Arid4a) and Rbbp1-like 1 (Rbbp1l1/Arid4b), in leukemogenesis was not characterized...
  20. ncbi request reprint Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    Sau W Cheung
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Am J Med Genet A 143:1679-86. 2007
    ..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics...
  21. pmc Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 22:483-8. 2011
    ....
  22. pmc Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
    Xinyan Lu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 2:e327. 2007
    ..We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA)...
  23. pmc Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:278-89. 2008
    ....
  24. ncbi request reprint Epigenetics and human disease
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Genomics Hum Genet 5:479-510. 2004
    ..The MEGDI model may apply to some complex disease traits and could explain negative results in genome-wide genetic scans...
  25. ncbi request reprint Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 16:811-20. 2005
    ..The results of this study highlight both the potential benefit and the risk associated with systemic intravascular delivery of high-dose HDAd for liver-directed gene therapy...
  26. doi request reprint Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH
    Weimin Bi
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 28:943-9. 2008
    ..Here, we explored the feasibility of using DNA extracted from uncultured amniocytes in amniotic fluid for array CGH on an oligonucleotide array platform...
  27. pmc Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 20:2859-70. 2006
    ..These data identify Rbbp1/Arid4a and Rbbp1l1/Arid4b as new members of epigenetic complexes regulating genomic imprinting at the PWS/AS domain...
  28. ncbi request reprint Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 17:391-404. 2006
    ..Importantly, stable, high levels of transgene expression were obtained for at least 665 days for one baboon and for at least 560 days for two baboons with no evidence of long-term toxicity...
  29. pmc Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 21:173-81. 2013
    ..Our findings implicate rare variants such as 16q24.3 loss and 2q31.3-q32.1 loss, and delineate regions within previously reported structural variants known to cause CVMs...
  30. pmc Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
    Sarika U Peters
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 152:1994-2001. 2010
    ..There were no statistically significant changes between treated and untreated children; however, in a small subset of patients we observed some positive trends...
  31. pmc A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 41:1269-71. 2009
    ..3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome...
  32. pmc Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 5:e12278. 2010
    ..These mice will be valuable for future comparative studies to mice with maternal deficiency of Ube3a alone...
  33. ncbi request reprint Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    Sau W Cheung
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 7:422-32. 2005
    ..We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH)...
  34. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  35. pmc Incidental copy-number variants identified by routine genome testing in a clinical population
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 15:45-54. 2013
    ..Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained...
  36. ncbi request reprint Mouse imprinting defect mutations that model Angelman syndrome
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genesis 44:12-22. 2006
    ..A second mutation, an 80-kb deletion extending upstream of the first mutation, caused a similar imprinting defect with variable penetrance. These results suggest that there is a mouse functional equivalent to the human AS-IC...
  37. doi request reprint The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations
    Robin P Goin-Kochel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, 1102 Bates Street, FC148, Houston, TX 77030, USA
    Autism Res 2:98-108. 2009
    ..Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism...
  38. ncbi request reprint Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 15:943-9. 2007
    ..Larger deletions result in a loss of several genes outside the common Angelman syndrome-Prader-Willi syndrome (AS-PWS) critical interval, and a more severe phenotype...
  39. pmc Detection of clinically relevant exonic copy-number changes by array CGH
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:1326-42. 2010
    ..In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes...
  40. ncbi request reprint Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 8:719-27. 2006
    ..This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies...
  41. doi request reprint Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 15:450-7. 2013
    ..In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed...
  42. ncbi request reprint Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice
    Lucio Pastore
    Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA
    Gene 327:153-60. 2004
    ..In conclusion, liver-directed gene transfer of human APOA-I using a HD-Ad vector resulted in a reduction of the development of atherosclerosis with the absence of significant toxicity...
  43. pmc Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector
    Gabriele Toietta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 102:3930-5. 2005
    ..We conclude that complete, long-term correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome can be achieved with one injection of HD-Ad vector and negligible chronic toxicity...
  44. ncbi request reprint Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
    Jonathan S Berg
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Genet Med 9:427-41. 2007
    ..23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome...
  45. ncbi request reprint Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 139:106-13. 2005
    ..This microarray provides a detailed characterization for chromosomal abnormalities involving 15q11-q14 and is useful for more precise genotype-phenotype correlations for autism, PWS, AS, and idic(15) syndrome...
  46. pmc A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
    Patricia B S Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 109:7974-81. 2012
    ....
  47. ncbi request reprint The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
    Scott V Dindot
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 17:111-8. 2008
    ..Collectively, these data suggest that the neurological deficits observed in AS patients and in AS mice may result from specific abnormalities in synaptic development and/or plasticity...
  48. ncbi request reprint Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    Pawel Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Curr Opin Genet Dev 17:182-92. 2007
    ..Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories...
  49. pmc Allan Award Introduction: Arthur L. Beaudet
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Am J Hum Genet 82:1032-3. 2008
  50. pmc Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions
    Scott V Dindot
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 19:1374-83. 2009
    ....
  51. ncbi request reprint Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 8:784-92. 2006
    ..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome...
  52. ncbi request reprint Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 12:99-106. 2005
    ..These results further suggest that the safety and efficacy of HDAd-mediated, liver-directed gene therapy may be improved if the vector could be preferentially, if not exclusively, targeted to liver...
  53. pmc Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
    Linyan Meng
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 21:3001-12. 2012
    ..These results suggest that the repression of human UBE3A-ATS may activate the expression of UBE3A from the paternal chromosome, providing a potential therapeutic strategy for patients with Angelman syndrome...
  54. doi request reprint Increased LIS1 expression affects human and mouse brain development
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 41:168-77. 2009
    ..Collectively, our results show that an increase in LIS1 expression in the developing brain results in brain abnormalities in mice and humans...
  55. ncbi request reprint Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 15:35-46. 2004
    ....
  56. pmc NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
    Piotr Dittwald
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1395-409. 2013
    ..2q13, were elucidated in association with novel genomic disorders. Our study quantitates genome architectural features responsible for NAHR-mediated genomic instability and further elucidates the role of NAHR in human disease. ..
  57. ncbi request reprint Cognitive and adaptive behavior profiles of children with Angelman syndrome
    Sarika U Peters
    Department of Pediatrics, Division of Developmental Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 128:110-3. 2004
    ..Strong, positive correlations emerge between cognitive ability scores and adaptive behaviors scores. These results provide further delineation of a cognitive/behavioral phenotype in AS...
  58. pmc Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
    Patricia B S Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 20:4360-70. 2011
    ..gov/geo/, date last accessed on 30 August 2011). Genboree accession: http://genboree.org/java-bin/gbrowser.jsp?refSeqId=1868&entryPointId=chr17&from=53496072&to=53694382&isPublic=yes, date last accessed on 30 August 2011...
  59. ncbi request reprint Human disorders of ubiquitination and proteasomal degradation
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Curr Opin Pediatr 16:419-26. 2004
    ..The relevant genes encode ubiquitin, ubiquitin enzymes (E1 and many E2s and E3s), deubiquitinating enzymes, proteasomal subunits, and substrates undergoing ubiquitination...
  60. pmc E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta
    Tao Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 120:2474-85. 2010
    ..This study identifies what we believe to be a novel intracellular mechanism for regulating TGF-beta during skeletal development and homeostasis...
  61. ncbi request reprint Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors
    Rebecca L Robker
    Section of Leukocyte Biology, Children s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, 1100 Bates Avenue, Houston, TX 77030, USA
    Obes Res 12:936-40. 2004
    ....
  62. doi request reprint Copy number and SNP arrays in clinical diagnostics
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Genomics Hum Genet 12:25-51. 2011
    ....
  63. ncbi request reprint Introduction of Arthur L. Beaudet, Harland Sanders Award recipient
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 4:396-8. 2002
  64. ncbi request reprint Array-based DNA diagnostics: let the revolution begin
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 59:113-29. 2008
    ..Future applications of high-throughput genotyping and array-based DNA sequencing technology will undoubtedly involve research and diagnostic analyses of rare mutations and perhaps ultimately enable full individual genome sequencing...
  65. ncbi request reprint Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus
    Asad Mian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 10:492-9. 2004
    ..These data represent an important approach for treating human inborn errors of hepatocyte metabolism like the UCDs that require high-level transduction and gene expression for clinical correction...
  66. ncbi request reprint Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    Wei Yu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 12:2145-52. 2003
    ..We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer...
  67. ncbi request reprint Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells
    Ting Fen Tsai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genesis 37:151-61. 2003
    ....
  68. ncbi request reprint Differential requirement for CD18 in T-helper effector homing
    Seung Hyo Lee
    Biology of Inflammation Center and Department of Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Med 9:1281-6. 2003
    ..These findings suggest a new integrin-based therapeutic approach in which the outcomes of diverse diseases may be favorably influenced by altering the homing of T(H)2 cells...
  69. ncbi request reprint Comparative genomic hybridization and prenatal diagnosis
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA
    Curr Opin Obstet Gynecol 18:185-91. 2006
    ....
  70. ncbi request reprint Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors
    Yong Liang
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Neurogenetics 6:37-44. 2005
    ....
  71. ncbi request reprint Epigenetics and complex human disease: is there a role in IBD?
    Arthur L Beaudet
    Baylor College of Medicine, Houston, TX, USA
    J Pediatr Gastroenterol Nutr 46:E2. 2008
  72. ncbi request reprint Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome
    Edwin J Weeber
    Division of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 23:2634-44. 2003
    ..These findings are the first to implicate misregulation of CaMKII as a molecular cause for the neurobehavioral deficits in a human learning disorder...
  73. ncbi request reprint Is medical genetics neglecting epigenetics?
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 4:399-402. 2002