Pawel Stankiewicz

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc Multiple samples aCGH analysis for rare CNVs detection
    Maciej Sykulski
    Institute of Informatics, University of Warsaw, Warsaw, Poland
    J Clin Bioinforma 3:12. 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 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
  4. doi request reprint Challenges in clinical interpretation of microduplications detected by array CGH analysis
    Pawel Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 152:1089-100. 2010
  5. 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
  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. 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
  9. 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
  10. 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

Detail Information

Publications72

  1. pmc Multiple samples aCGH analysis for rare CNVs detection
    Maciej Sykulski
    Institute of Informatics, University of Warsaw, Warsaw, Poland
    J Clin Bioinforma 3:12. 2013
    ..DNA copy number variations (CNV) constitute an important source of genetic variability. The standard method used for CNV detection is array comparative genomic hybridization (aCGH)...
  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 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...
  4. doi request reprint Challenges in clinical interpretation of microduplications detected by array CGH analysis
    Pawel Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 152:1089-100. 2010
    ..We present the steps for interpreting the clinical significance of microduplications and representative examples of these challenging cases...
  5. 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...
  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. 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...
  9. 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...
  10. 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...
  11. 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...
  12. pmc Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
    Partha Sen
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 34:801-11. 2013
    ..We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis...
  13. 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...
  14. 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...
  15. 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)...
  16. 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...
  17. 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...
  18. 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...
  19. 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
    ....
  20. 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...
  21. 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...
  22. 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
    ....
  23. 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...
  24. 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...
  25. 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)...
  26. doi request reprint Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
    Ayelet Erez
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Neurogenetics 10:363-9. 2009
    ....
  27. 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...
  28. pmc Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
    Sandesh Chakravarthy Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 18:278-84. 2010
    ..Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12...
  29. 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...
  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. 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 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...
  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. 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
    ....
  35. 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...
  36. 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
    ....
  37. doi request reprint Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:2480-9. 2008
    ..Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family...
  38. 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. ..
  39. 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...
  40. pmc HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome
    Amarilis Sanchez-Valle
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:2854-60. 2010
    ....
  41. pmc TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 155:1442-7. 2011
    ..Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized...
  42. 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...
  43. 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...
  44. pmc Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:102-7. 2011
    ....
  45. 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
    ....
  46. ncbi request reprint Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients
    Joanna Pietrzak
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warszawa, Poland
    J Appl Genet 48:167-75. 2007
    ..This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes...
  47. 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...
  48. ncbi request reprint Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
    Silke Schlaubitz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 143:1071-81. 2007
    ..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1...
  49. 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...
  50. 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...
  51. ncbi request reprint SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway
    Gabriel A Bien-Willner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 16:1143-56. 2007
    ....
  52. ncbi request reprint Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)
    Marta Smyk
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Genet 122:63-70. 2007
    ..We propose that this genomic region and by extension those surrounding the dosage sensitive SRY, SOX9, SF1, and WNT-4 genes, should be examined for copy-number variation in patients with sex reversal...
  53. pmc Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2
    Melissa B Ramocki
    Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1574-80. 2011
    ..In addition, an individual with a complex rearrangement of chromosome 22q13.3 and RES was identified, suggesting the presence of a dosage-sensitive gene that may contribute to RES in this region...
  54. 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...
  55. 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...
  56. pmc Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Mol Cytogenet 1:16. 2008
    ..The cell line carrying the deletion of Xp could have then stabilized through self-circularization and formation of the ring X chromosome...
  57. ncbi 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...
  58. pmc Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 14:868-76. 2012
    ..A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype-phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking...
  59. ncbi request reprint Small marker chromosomes in two patients with segmental aneusomy for proximal 17p
    Christine J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, TX 77030, Houston, USA
    Hum Genet 115:1-7. 2004
    ..2 and to elucidate genotype-phenotype correlations...
  60. doi request reprint Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures
    M Bartnik
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Clin Genet 80:191-5. 2011
    ....
  61. pmc A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
    Partha Sen
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 21:474-7. 2013
    ..Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human...
  62. 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...
  63. 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...
  64. pmc Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, and at the Texas Children s Hospital, Houston, Texas, United States of America
    PLoS Genet 1:e49. 2005
    ....
  65. 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...
  66. pmc Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle release
    Ayse K Coskun
    Baylor College of Medicine, Department of Molecular Virology and Microbiology, One Baylor Plaza, Houston, TX 77030, USA
    Virology 362:283-93. 2007
    ..These permissive mouse-human MCHs and their corresponding non-permissive revertants may prove useful for mechanistic studies and also for identifying the responsible gene(s) or factor(s) involved in the production of HIV...
  67. pmc Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:23-33. 2013
    ..Perturbation of lncRNA-mediated chromatin interactions may, in general, be responsible for position effect phenomena and potentially cause many disorders of human development...
  68. pmc Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
    Gopalrao V N Velagaleti
    Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA
    Am J Hum Genet 76:652-62. 2005
    ..1 Mb upstream and 1.3 Mb downstream of it, respectively. The potential molecular mechanism responsible for the position effect is discussed...
  69. ncbi request reprint A girl with duplication 17p10-p12 associated with a dicentric chromosome
    Christine J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 124:173-8. 2004
    ..We compare the clinical features of our patient to those of individuals with partial trisomy of proximal 17p to further delineate the genotype-phenotype correlation associated with segmental duplication of this chromosomal region...
  70. pmc Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Med Genet 47:777-81. 2010
    ..Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders...
  71. pmc Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafness
    Giuseppina Somma
    Huffington Center on Aging, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Assoc Res Otolaryngol 13:335-49. 2012
    ..We propose that genes critical for inner ear patterning and differentiation are lost at the head bobber locus and are candidate genes for human deafness and vestibular disorders...
  72. ncbi request reprint Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas
    Ana M Avalos Mishaan
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Pediatr Infect Dis J 24:201-6. 2005
    ..The objectives of this study were to describe the distribution of CA S. aureus among patients at TCH and to study genomic relationships of isolates collected between August 2001 and July 2003...