James R Lupski

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men
    Melanie Lacaria
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 8:e1002713. 2012
  2. doi request reprint Digenic inheritance and Mendelian disease
    James R Lupski
    Department of Molecular and Human Genetics and the Department of Pediatrics at the Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 44:1291-2. 2012
  3. pmc Clan genomics and the complex architecture of human disease
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 147:32-43. 2011
  4. pmc Genomic disorders ten years on
    James R Lupski
    Departments of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, TX 77030, USA
    Genome Med 1:42. 2009
  5. ncbi request reprint Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030 3498, USA
    Hum Genet 115:515-24. 2004
  6. ncbi request reprint Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Mol Genet 15:2250-65. 2006
  7. 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
  8. ncbi request reprint A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA
    Cell 131:1235-47. 2007
  9. 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
  10. ncbi request reprint Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA
    Neurogenetics 8:257-62. 2007

Collaborators

Detail Information

Publications141 found, 100 shown here

  1. pmc A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men
    Melanie Lacaria
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 8:e1002713. 2012
    ....
  2. doi request reprint Digenic inheritance and Mendelian disease
    James R Lupski
    Department of Molecular and Human Genetics and the Department of Pediatrics at the Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 44:1291-2. 2012
    ..A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2...
  3. pmc Clan genomics and the complex architecture of human disease
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 147:32-43. 2011
    ..One implication of this realization is that recent mutation may have a greater influence on disease susceptibility or protection than is conferred by variations that arose in distant ancestors...
  4. pmc Genomic disorders ten years on
    James R Lupski
    Departments of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, TX 77030, USA
    Genome Med 1:42. 2009
    ..Similarly, the ability to perform high-resolution human genome analysis has fueled the current and future clinical implementation of such discoveries in the evolving field of genome medicine...
  5. ncbi request reprint Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030 3498, USA
    Hum Genet 115:515-24. 2004
    ..These findings suggest RAI1 is involved in transcriptional control through a multi-protein complex whose function may be altered in individuals with SMS...
  6. ncbi request reprint Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Mol Genet 15:2250-65. 2006
    ....
  7. 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...
  8. ncbi request reprint A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA
    Cell 131:1235-47. 2007
    ..We propose that complex duplication and deletion rearrangements associated with PMD, and potentially other nonrecurrent rearrangements, may be explained by this replication-based mechanism...
  9. 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...
  10. ncbi request reprint Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA
    Neurogenetics 8:257-62. 2007
    ..We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain...
  11. ncbi request reprint Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome
    Jiong Yan
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 13:2613-24. 2004
    ..Our mouse models refined the genomic region important for a portion of the SMS phenotype and provided a basis for further molecular analysis of genes associated with SMS...
  12. ncbi request reprint RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 3498, USA
    Am J Med Genet A 140:2454-63. 2006
    ....
  13. ncbi request reprint Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
    Hum Mol Genet 16:1802-13. 2007
    ....
  14. 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...
  15. pmc Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike
    Jiong Yan
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 80:518-25. 2007
    ....
  16. ncbi request reprint Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 138:175-80. 2005
    ..We present the cytogenetic, molecular, and clinical data of this patient and compare our results with those of patients with dup(17)(p11.2p11.2) syndrome and other patients with SMC(17)...
  17. pmc Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
    Lorraine Potocki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 80:633-49. 2007
    ..Our results refine the critical region for Potocki-Lupski syndrome, provide information to assist in clinical diagnosis and management, and lend further support for the concept that genomic architecture incites genomic instability...
  18. pmc Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Mol Genet 20:1975-88. 2011
    ..Our findings reveal the distribution of different mechanisms for genomic duplication rearrangements at a given locus, and provide insights into aspects of strand exchange events between paralogous sequences in the human genome...
  19. pmc Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
    Katherina Walz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 116:3035-41. 2006
    ..These data provide a model for variation in copy number of single genes that could influence common traits such as obesity and behavior...
  20. pmc Replicative mechanisms for CNV formation are error prone
    Claudia M B Carvalho
    1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA 2 Centro de Pesquisas René Rachou FIOCRUZ, Belo Horizonte, Brazil
    Nat Genet 45:1319-26. 2013
    ..Our findings implicate low-fidelity, error-prone DNA polymerase activity in synthesis associated with DNA repair mechanisms as the cause of local increase in point mutation burden associated with human CGR...
  21. pmc TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 93:197-210. 2013
    ....
  22. pmc Exome capture sequencing identifies a novel mutation in BBS4
    Hui Wang
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
    Mol Vis 17:3529-40. 2011
    ..The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing...
  23. pmc Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy
    Mehrdad Khajavi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 81:438-53. 2007
    ....
  24. ncbi request reprint Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:983-95. 2005
    ....
  25. pmc Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
    Am J Hum Genet 73:1302-15. 2003
    ..The role of any or all of these in stimulating double-strand breaks around this positional recombination hotspot remains to be explored...
  26. ncbi request reprint Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats
    Naohiro Kurotaki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 14:535-42. 2005
    ..5 kb unequal crossover hotspot region in six out of nine analyzed Sos patients with the common deletion. Our data are consistent with an NAHR mechanism for generation of the Sos common deletion...
  27. ncbi request reprint ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2769-78. 2005
    ..Our data suggest that a class of ABCA4 mutants may be an important determinant of the AO of disease...
  28. ncbi request reprint Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
    Jiong Yan
    Department of Molecular and Human Genetics, Houston, Texas, USA
    Am J Med Genet A 140:1531-41. 2006
    ..Furthermore, bioinformatic analyses of the NIPBL protein revealed several novel domains, which may give further clues about potential functions of this protein...
  29. doi request reprint Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
    Amy Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 32:351-61. 2012
    ..To evaluate the results of prenatal chromosomal microarray analysis (CMA) on >1000 fetal samples referred for testing at our institution and to compare these data to published reports...
  30. pmc Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
    ..The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle...
  31. 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...
  32. 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...
  33. ncbi request reprint Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:442-52. 2006
    ..In silico analysis of breakpoint regions revealed the presence of highly identical low-copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation...
  34. pmc BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
    Nicholas Katsanis
    Department of Molecular Genetics, Baylor College of Medicine, Houston, USA
    Am J Hum Genet 71:22-9. 2002
    ..Establishment of the loci pairing in triallelism is likely to be important for the elucidation of the functional relationships among the different BBS proteins...
  35. ncbi request reprint Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation
    Marcia J Simovich
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 27:1112-7. 2007
    ..Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3)...
  36. ncbi request reprint Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 8:86-92. 2006
    ..An evidence-based approach was used to determine the frequency distribution of genes contributing to the Charcot-Marie-Tooth (CMT) disease phenotype...
  37. pmc Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 9:e1003797. 2013
    ..We propose a potential use in clinical decision support for our results in the context of genome-wide screening. Our approach demonstrates the utility of integrative data in medical genomics. ..
  38. pmc Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
    Christine J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 75:75-81. 2004
    ..Our findings indicate that alternative LCRs can mediate rearrangements, resulting in haploinsufficiency of the SMS critical region, and reimplicate homologous recombination as a major mechanism for genomic disorders...
  39. ncbi request reprint Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 138:11-7. 2005
    ..Our findings further suggest that a dosage effect of SOX3 may to be responsible for a speech disorder in addition to short stature secondary to hypopituitarism...
  40. ncbi request reprint Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA
    Hum Genet 120:211-26. 2006
    ..Evaluations of these null mice have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human BBS phenotype...
  41. pmc Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Genet 131:1895-910. 2012
    ..The end-replication challenges of subtelomeric genomic intervals may make them particularly prone to rearrangements generated by errors in DNA replication...
  42. pmc Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1383-94. 2013
    ..We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles. ..
  43. pmc Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results
    Sung Hae L Kang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 152:1111-26. 2010
    ..We hypothesize that the increased use of aCGH in the clinic will demonstrate that IT occurs more frequently than previously considered but can identify genomic rearrangements with unclear clinical significance...
  44. 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...
  45. pmc Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 15:64. 2014
    ..Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed to the pathogenesis of a case lacking biallelic SBDS point mutations...
  46. pmc Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 86:462-70. 2010
    ..2 duplication types in PTLS reveal insights into both the contributions of new mutations and the different underlying mechanisms that generate genomic rearrangements causing genomic disorders...
  47. pmc A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
    Luis M Franco
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 18:258-61. 2010
    ..The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans...
  48. pmc Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis
    Xia Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 32:1450-9. 2011
    ..Thus, to obtain accurate diagnosis and gain a complete picture of the disease, it is essential to sequence a larger set of retinal disease genes and combine the clinical phenotype with molecular diagnosis...
  49. ncbi request reprint Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T821, Houston, TX 77030, USA
    Hum Genet 120:227-37. 2006
    ..Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution...
  50. ncbi request reprint Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    Lorraine Potocki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 5:430-4. 2003
    ....
  51. ncbi request reprint SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
    Gulam Mustafa Saifi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 25:372-83. 2005
    ..Thus the potential E3 ubiquitin ligase activity of SIMPLE, alteration in its interactions with NEDD4 or TSG101, or changes in its properties as a clathrin coat adaptor may underlie the pathogenesis of Charcot-Marie-Tooth disease...
  52. ncbi request reprint Triallelic inheritance: a bridge between Mendelian and multifactorial traits
    Erica R Eichers
    Departments of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, Texas 77030, USA
    Ann Med 36:262-72. 2004
    ..Modeling the cooperative ability of alleles of different genes at distinct loci to give rise to a particular phenotype will facilitate the understanding of complex multifactorial and polygenic traits...
  53. 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...
  54. 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...
  55. pmc Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
    Melissa B Ramocki
    Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 66:771-82. 2009
    ..This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females...
  56. pmc A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
    Neil A Hanchard
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    BMC Med Genet 13:71. 2012
    ..Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms...
  57. 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)...
  58. pmc Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 21:33-46. 2011
    ..Furthermore, we provide a computationally determined genome-wide "recurrent translocation map."..
  59. pmc NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation
    Davut Pehlivan
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 14:313-22. 2012
    ..The molecular etiology of a significant fraction of CdLS cases remains unknown. We hypothesized that large genomic rearrangements of cohesin complex subunit genes may play a role in the molecular etiology of this disorder...
  60. pmc Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 86:892-903. 2010
    ..Rare CNVs may potentially represent an important portion of "missing heritability" for human diseases...
  61. doi request reprint Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:573-86. 2010
    ..To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements...
  62. 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. ..
  63. 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
    ....
  64. doi request reprint Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases
    Justin Pham
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 22:969-78. 2014
    ..In summary, our exon-targeted array further expands the diagnostic capability of high-resolution array comparative genomic hybridization in detecting mosaicism for cytogenetic abnormalities as well as small CNVs in disease-causing genes...
  65. pmc Mechanisms for recurrent and complex human genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Curr Opin Genet Dev 22:211-20. 2012
    ..Both nonhomologous end-joining and aberrant replication have significant roles in chromothripsis. As we study CNV, the processes underlying human genome evolution are revealed...
  66. doi request reprint What have studies of genomic disorders taught us about our genome?
    Alexandra D Simmons
    Biology Department, University of St Thomas, Houston, TX, USA
    Methods Mol Biol 838:1-27. 2012
    ..This leads to a greater understanding of the effects of rearrangements present both in healthy subjects and individuals with clinically relevant phenotypes...
  67. pmc A microhomology-mediated break-induced replication model for the origin of human copy number variation
    P J Hastings
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 5:e1000327. 2009
    ....
  68. pmc Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 13:582-92. 2011
    ..The full spectrum of SPAST mutations causing SPG4 and their mechanisms of formation remain to be determined...
  69. pmc Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 107:1765-71. 2010
    ....
  70. pmc Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 89:580-8. 2011
    ..To explain this, we propose that the probability of ectopic chromosome synapsis increases with increased LCR length, and that ectopic synapsis is a necessary precursor to ectopic crossing-over...
  71. pmc Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
    Sandesh Chakravarthy Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 17:573-81. 2009
    ..2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing...
  72. pmc Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly
    Claudia Gonzaga-Jauregui
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    JAMA Neurol 70:1491-8. 2013
    ..Genomics is also revealing a phenotypic expansion whereby the full spectrum of clinical expression conveyed by mutant alleles at a locus can be better appreciated...
  73. pmc GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease
    Claudia Gonzaga-Jauregui
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Neurogenetics 11:465-70. 2010
    ..In addition to PMP22, GJB1 is the second CMT gene for which both point mutations and genomic rearrangements can cause a neuropathy phenotype, stressing the importance of CMT as a genomic disorder...
  74. pmc Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 94:462-9. 2014
    ..We propose that individuals with duplications are predisposed to acquiring triplications and that the population prevalence of triplication is underascertained...
  75. pmc Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    N Engl J Med 362:1181-91. 2010
    ..We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease...
  76. pmc Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
    Joanna Wiszniewska
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 22:79-87. 2014
    ..Thus, combining SNP probes and exon-targeted array CGH into one platform provides clinically useful genetic screening in an efficient manner...
  77. pmc Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
    Avinash V Dharmadhikari
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room R809, Houston, TX 77030, USA
    Hum Mol Genet 21:3345-55. 2012
    ....
  78. doi request reprint Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Med Genet 49:681-8. 2012
    ..The reciprocal duplication is associated with an extremely variable phenotype, ranging from apparently normal to learning disabilities and multiple congenital anomalies...
  79. pmc Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 43:1074-81. 2011
    ..We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events...
  80. pmc Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX 77030, USA
    Hum Genet 126:589-602. 2009
    ....
  81. pmc Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
    Davut Pehlivan
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 22:1145-8. 2014
    ..We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD. ..
  82. pmc Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
    Ender Karaca
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 157:636-50. 2014
    ..Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis...
  83. pmc Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
    Claudia Gonzaga-Jauregui
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 23:342-6. 2015
    ..We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population. ..
  84. pmc Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome
    Ender Karaca
    Department of Molecular and Human Genetics E K, D P, W L C, Y B, T G, M W, M M A, R A G, J R L, Baylor College of Medicine, Houston, Texas 77030 Department of Radiology R B, Duzce University Medical School, 81620 Duzce, Turkey Department of Medical Biology K O Y, Kahramanmaras Sutcu Imam University, Medical School, 46100 Kahramanmaras, Turkey Department of Pediatric Endocrinology I A, S B, Duzce University Medical School, 81620 Duzce, Turkey Center for Human Genetic Research S E, Massachussetts General Hospital, Boston, Massachussetts 02114 Department of Radiology A B, Duzce Ataturk Community Hospital, 81620 Duzce, Turkey Department of Medical Biology and Genetics E Y, Duzce University Institute of Health Science, 81620 Duzce, Turkey Human Genome Sequencing Center S N J, D M M, R A G, Baylor College of Medicine, Taiwan
    J Clin Endocrinol Metab 100:E140-7. 2015
    ..Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined...
  85. pmc Molecular findings among patients referred for clinical whole-exome sequencing
    Yaping Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    JAMA 312:1870-9. 2014
    ..Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders...
  86. pmc CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
    Claudia Soler-Alfonso
    Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, TX, USA
    Eur J Hum Genet 22:1071-6. 2014
    ..Co-segregation of the CHRNA7 triplication with neuropsychiatric and cognitive phenotypes provides further evidence for dosage sensitivity of CHRNA7. ..
  87. 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...
  88. pmc Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:2188-203. 2009
    ....
  89. pmc Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
    Yavuz Bayram
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    Am J Med Genet A 164:2328-34. 2014
    ..1150G>A; p.Gly384Ser) mutation in the ANTXR1 gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix...
  90. doi request reprint Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Centro de Pesquisas René Rachou FIOCRUZ, Belo Horizonte, MG 30190 002, Brazil
    Am J Hum Genet 96:555-64. 2015
    ..Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disorders. ..
  91. pmc Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome
    Matteo Vatta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, Indiana Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
    Am J Med Genet A 161:3182-6. 2013
    ..Although likely rare, CGR may represent an overlooked mechanism in subjects with CHARGE syndrome that can be missed by current sequencing and dosage assays...
  92. pmc Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
    Michael F Wangler
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America Texas Children s Hospital, Houston, Texas, United States of America
    PLoS Genet 10:e1004258. 2014
    ..ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. ..
  93. doi request reprint The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 41:849-53. 2009
    ..The FoSTeS/MMBIR mechanism can explain both the gene duplication-divergence hypothesis and exon shuffling, suggesting an important role in both genome and single-gene evolution...
  94. pmc Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:1924-36. 2009
    ....
  95. pmc Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    Yaping Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    N Engl J Med 369:1502-11. 2013
    ..Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders...
  96. pmc Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome
    Jian Li
    Bioinformatics Research Laboratory, Epigenome Center, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 8:e1002692. 2012
    ..These findings suggest a new connection between the epigenome, selective mutability, evolution, and human disease...
  97. pmc Cardiovascular findings in duplication 17p11.2 syndrome
    John L Jefferies
    Section of Pediatric Cardiology, Texas Children s Hospital, Houston, Texas, USA
    Genet Med 14:90-4. 2012
    ..Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities...
  98. pmc Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome
    Javier Chinen
    Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, TX, USA
    J Allergy Clin Immunol 127:1579-86. 2011
    ..Eighty percent of subjects have a chromosome 17p11.2 microdeletion, which includes TACI. The remaining subjects have mutations sparing this gene...
  99. 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...