Ankita Patel

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. 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
  2. ncbi request reprint Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia
    Ankita Patel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77024, USA
    Am J Hematol 83:540-6. 2008
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications77

  1. 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...
  2. ncbi request reprint Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia
    Ankita Patel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77024, USA
    Am J Hematol 83:540-6. 2008
    ..Furthermore, this pilot study clearly shows the robustness, high sensitivity, and high specificity for the targeted CLL microarray analysis as well as the potential for use in routine screening in CLL...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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)...
  10. 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...
  11. 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...
  12. 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."..
  13. 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...
  14. doi request reprint The Xp contiguous deletion syndrome and autism
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 149:1138-48. 2009
    ..Our findings suggest that the severity and the variability of the clinical findings are determined by the size and the parental origin of the deletions as well as the X-inactivation status...
  15. 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. ..
  16. 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
    ....
  17. 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...
  18. doi request reprint Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:267-77. 2008
    ..To date, only a small number of patients with 22q11.2 microduplication have been identified...
  19. 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
    ....
  20. doi request reprint Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
    Sandesh C S Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Neurogenetics 13:333-9. 2012
    ..Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function...
  21. 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...
  22. pmc Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 33:165-79. 2012
    ..21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers...
  23. 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...
  24. pmc A genome-wide screen for copy number alterations in Aicardi syndrome
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:2113-21. 2009
    ..We conclude that, in this study population of 38 subjects, Aicardi syndrome is not caused by CNVs detectable with the high-resolution array platform that was used...
  25. 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...
  26. pmc MECP2 duplications in six patients with complex sex chromosome rearrangements
    Amy M Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:409-15. 2011
    ....
  27. pmc Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:152-6. 2011
    ..A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients...
  28. 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...
  29. 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
    ....
  30. 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. ..
  31. 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...
  32. 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
    ....
  33. doi request reprint Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
    Sandra Darilek
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:13-8. 2008
    ....
  34. pmc Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 20:1240-7. 2012
    ..The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1...
  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. pmc Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 40:1466-71. 2008
    ..These phenotypes are subject to incomplete penetrance and variable expressivity...
  37. doi request reprint OEIS complex associated with chromosome 1p36 deletion: a case report and review
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:504-11. 2010
    ..Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion...
  38. 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)...
  39. pmc Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77021 2039, USA
    J Mol Diagn 12:670-9. 2010
    ..This pilot study clearly demonstrates high sensitivity of oligonucleotide aCGH for potential use in diagnosis and follow-up in patients with hematological neoplasms...
  40. 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...
  41. doi request reprint Low-level mosaicism of trisomy 14: phenotypic and molecular characterization
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:1395-405. 2008
    ....
  42. 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
    ....
  43. 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...
  44. 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)...
  45. 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...
  46. pmc Phenotypic manifestations of copy number variation in chromosome 16p13.11
    Sandesh C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 19:280-6. 2011
    ..Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance...
  47. pmc 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...
  48. 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. ..
  49. doi request reprint Preparation of chorionic villus samples for metaphase chromosome analysis and chromosomal microarray analysis
    Amy Breman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Curr Protoc Hum Genet . 2012
    ..Chorionic villi may also be assessed by chromosomal microarray analysis (CMA). For this purpose, a method for extraction of high-quality DNA from CVS tissue is also described here...
  50. pmc Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44
    Sandesh C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 20:176-9. 2012
    ..Our results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion...
  51. 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...
  52. pmc Mechanisms for Complex Chromosomal Insertions
    Shen Gu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 12:e1006446. 2016
    ....
  53. pmc Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
    Sandesh C S Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 21:343-6. 2013
    ..More importantly, it demonstrates the utility of targeted exon array as a highly sensitive clinical diagnostic tool for the detection of small genomic rearrangements in the clinically relevant regions of the human genome...
  54. 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...
  55. doi request reprint Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:1042-8. 2008
    ....
  56. 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...
  57. 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
    ....
  58. pmc Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
    Sirisha Peddibhotla
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 23:54-60. 2015
    ..Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies. ..
  59. pmc Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR R809, Houston, TX, USA
    BMC Biol 12:74. 2014
    ..We hypothesized that HERV elements throughout the genome can serve as substrates for genomic instability and result in human copy-number variation (CNV)...
  60. pmc Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS NAB 2015, Houston, TX, 77030, U S A
    BMC Med Genet 16:12. 2015
    ..The reciprocal deletion was previously reported in a mother and daughter. It was suggested that this deletion may not have phenotypic effects in females because of skewed chromosome X inactivation, but may be embryonic lethal in males...
  61. pmc 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
    Shay Ben-Shachar
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 82:214-21. 2008
    ..2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes...
  62. pmc Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 95:173-82. 2014
    ..Overall, our results underscore an important role for somatic mosaicism and mitotic replicative mutational mechanisms in transmission genetics. ..
  63. doi request reprint Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
    Sirisha Peddibhotla
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Department of Pediatrics Hematology Oncology, Baylor College of Medicine and Texas Children s Cancer Center, Houston, Texas
    Am J Med Genet A 161:2953-63. 2013
    ..3 appears important for normal embryonic and childhood development. The clinical description of patients with deletions in this genomic interval will assist clinicians to identify and treat individuals with similar deletions...
  64. pmc SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
    Kihoon Han
    1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA 2 Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA 3 Jan and Dan Duncan Neurological Research Institute at Texas Children s Hospital, Houston, Texas 77030, USA
    Nature 503:72-7. 2013
    ..The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile. ..
  65. pmc Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
    Paweł Stankiewicz
    Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:780-91. 2009
    ..These differences reveal the phenotypic consequences of gene alterations in cis...
  66. pmc Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty
    Shweta U Dhar
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:993-6. 2009
    ..Our report further emphasizes the need to exclude any type of abnormalities of chromosome 13 in patients with phylloid hypopigmentation...
  67. pmc Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men
    Alexander N Yatsenko
    Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Urol 183:1636-42. 2010
    ..To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia...
  68. 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...
  69. 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...
  70. pmc Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems
    Melissa B Ramocki
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 87:857-65. 2010
    ....
  71. doi request reprint Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
    Ayman W El-Hattab
    Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, Missouri, USA
    J Med Genet 48:840-50. 2011
    ..X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants...
  72. ncbi request reprint Expression of human 8-oxoguanine DNA glycosylase (hOGG1) in follicular lymphoma
    Andrea M Sheehan
    Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA
    Mod Pathol 18:1512-8. 2005
    ..Additionally, finding absent/minimal hOGG1 expression in a subset of Bcl-2-negative follicular lymphomas suggests that hOGG1 may have utility in diagnosing Bcl-2-negative follicular lymphomas...
  73. ncbi request reprint Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 39:836-8. 2007
    ..PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins...
  74. ncbi request reprint Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features
    Kwei Shuai Hwang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 137:88-93. 2005
    ..5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities...
  75. ncbi request reprint Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA
    Zöe Powis
    Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:2910-5. 2007
    ..He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age...
  76. ncbi request reprint A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N Broadway, BRB 469, Baltimore, MD 21205, USA
    Genomics 85:622-9. 2005
    ....
  77. ncbi request reprint Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT)
    Denise L M Goh
    Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Blalock 10 08, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Mol Genet Metab 76:172-80. 2002
    ..Bacterial expression studies confirm that the gene encodes for AADAT activity. The availability of the DNA sequence and enzyme assay will allow further evaluation of individuals suspected to have defects in this enzyme...