Research Topics
Genomes and Genes | James R LupskiSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Digenic inheritance and Mendelian diseaseJames 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...
Genomic disorders ten years onJames 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...- Clan genomics and the complex architecture of human diseaseJames 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... - Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan 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... - Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei 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... - Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literatureAmy 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... - Exome capture sequencing identifies a novel mutation in BBS4Hui 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... - Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei 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... - Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilizationSvetlana 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... 
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin 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...- Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) resultsSung 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... - A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis 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... - Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin 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... - Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSFeng 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... - NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationDavut 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... - Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeMelissa 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... - Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan 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)... - Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritabilityFeng 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... - Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variantsAyman 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... - Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesZhishuo 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.".. - A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotypeNeil 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... - Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip 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... - Mechanisms for recurrent and complex human genomic rearrangementsPengfei 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... - 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... - Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing lossSandesh 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... - Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-overPengfei 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... - Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolutionClaudia 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.... - A microhomology-mediated break-induced replication model for the origin of human copy number variationP J Hastings
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS Genet 5:e1000327. 2009.... - Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegiaPhilip 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... - 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 DNASvetlana A Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Mol Diagn 11:226-37. 2009.... - Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames 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... - Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman 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.... - GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia 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... - Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeClaudia 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... - Detection of clinically relevant exonic copy-number changes by array CGHPhilip 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... - Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema 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... - Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi
MGL Cytogenetics Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, 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... - Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 18:2188-203. 2009.... - The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humansFeng 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... - Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndromeSvetlana A Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 18:1924-36. 2009.... - Genomic hypomethylation in the human germline associates with selective structural mutability in the human genomeJian 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... - Cardiovascular findings in duplication 17p11.2 syndromeJohn 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... - Whole-genome sequencing for optimized patient managementMatthew N Bainbridge
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
Sci Transl Med 3:87re3. 2011..Supplementation of l-dopa therapy with 5-hydroxytryptophan, a serotonin precursor, resulted in clinical improvements in both twins... - Genomic medicine and neurological diseasePhilip M Boone
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Genet 130:103-21. 2011..In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds... - Complex human chromosomal and genomic rearrangementsFeng Zhang
Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children s Hospital, Houston, TX 77030, USA
Trends Genet 25:298-307. 2009.... - Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndromeJavier 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... - Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia 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... - Structural variation of the human genome: mechanisms, assays, and role in male infertilityClaudia M B Carvalho
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
Syst Biol Reprod Med 57:3-16. 2011..We describe mechanisms underlying the formation of human genomic rearrangements on autosomes and review Y-chromosome deletions associated with male infertility... - Copy number variation at the breakpoint region of isochromosome 17qClaudia M B Carvalho
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 18:1724-32. 2008..The variant REPA/B structures identified may have different susceptibilities for inducing i(17q), thus potentially representing important risk alleles for tumor progression... - Increased LIS1 expression affects human and mouse brain developmentWeimin 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... - Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traitsMelanie Lacaria
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 21:3083-96. 2012.... - Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan 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... - A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menMelanie Lacaria
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS Genet 8:e1002713. 2012.... - Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosisXia 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... - Structural variation in the human genome and its role in diseasePaweł Stankiewicz
Department of Molecular, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Med 61:437-55. 2010..Both recombination- and replication-based mechanisms for CNV formation have been described... - Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola 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... - Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thriveClaudia Soler-Alfonso
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Pediatr 158:655-659.e2. 2011..2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow function studies... - Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseJennifer 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.... - Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash 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.... - Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWojciech Wiszniewski
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, USA
Hum Genet 129:319-27. 2011..Our findings suggest that mutational load can be important to penetrance of the LCA phenotype... - Human genome sequencing in health and diseaseClaudia Gonzaga-Jauregui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Med 63:35-61. 2012..Personal genome sequencing may eventually become an instrument of common medical practice, providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges... - Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxinMelissa K Boles
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
PLoS Genet 5:e1000759. 2009..Our data show that the classical positional mapping approach of disease mutation identification can be extended to large target regions using high-throughput sequencing... - Mechanisms for human genomic rearrangementsWenli Gu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Pathogenetics 1:4. 2008..We provide a review of the current understanding of these three models... - Personal genome research : what should the participant be told?Amy L McGuire
Center for Medical Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, BCM420 Houston, Texas 77030, USA
Trends Genet 26:199-201. 2010..L.) experience as a geneticist who recently had his own genome sequenced... - Serial segmental duplications during primate evolution result in complex human genome architecturePawełl Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 14:2209-20. 2004.... - Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPsSung Sup Park
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA
Genome Res 12:729-38. 2002.... - Molecular mechanisms for genomic disordersKen Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Genomics Hum Genet 3:199-242. 2002..The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized... - A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disordersJennifer 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... - Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with gangliogliomaHannah C Cheung
Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas, USA
Pediatr Blood Cancer 58:801-5. 2012..The ganglioglioma showed complex chromosomal aberrations with further duplication of the dup9q34. Thus, this unique tandem 9q34.3 duplication may impact brain tumor formation... - Mechanisms of change in gene copy numberP J Hastings
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
Nat Rev Genet 10:551-64. 2009..For example, cellular stress might induce repair of broken replication forks to switch from high-fidelity homologous recombination to non-homologous repair, thus promoting copy number change... - The complete genome of an individual by massively parallel DNA sequencingDavid A Wheeler
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
Nature 452:872-6. 2008..This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'... - Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina 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... - Copy number variation in human health, disease, and evolutionFeng Zhang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Genomics Hum Genet 10:451-81. 2009..However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution... - 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architectureJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, 77030, USA
Am J Hum Genet 72:246-52. 2003 - Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalanceKatherina Walz
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Mol Cell Biol 23:3646-55. 2003..Our murine models represent a powerful tool to analyze the consequences of gene dosage imbalance in this genomic interval and to investigate the molecular genetic bases of both SMS and dup(17)(p11.2p11.2)... - Structural variation in the human genomeJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, USA
N Engl J Med 356:1169-71. 2007 - Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesJames 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.... - Implications of human genome architecture for rearrangement-based disorders: the genomic basis of diseaseChristine J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Mol Genet 13:R57-64. 2004..In this review, we discuss recent advances regarding general mechanisms for the various rearrangements of our genome, and potential models for rearrangements with non-homologous breakpoint regions... - Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substratesChristine 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... - Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanismsChristine J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
Hum Genet 116:1-7. 2005..These data further implicate homologous recombination as the predominant mechanism of deletion formation in this genomic interval... - Hotspots of homologous recombination in the human genome: not all homologous sequences are equalJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Genome Biol 5:242. 2004..Recent studies of these hotspots show that they do not share common sequence motifs, but they do have other features in common... - Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeatsNaohiro 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... - Genome architecture, rearrangements and genomic disordersPaweł Stankiewicz
Dept Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
Trends Genet 18:74-82. 2002..Moreover, it has been suggested that higher order genomic architecture involving LCRs plays a significant role in karyotypic evolution accompanying primate speciation... - Molecular-evolutionary mechanisms for genomic disordersPawel Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, and Texas Children Hospital, Houston, Texas 77030-3498, USA
Curr Opin Genet Dev 12:312-9. 2002..In addition, this LCR-based complex genome architecture appears to play a major role in both primate karyotype evolution and human tumorigenesis... - 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... - Genomic rearrangements and gene copy-number alterations as a cause of nervous system disordersJennifer A Lee
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA
Neuron 52:103-21. 2006..We speculate that CNV could underlie a significant proportion of normal human variation including differences in cognitive, behavioral, and psychological features... - Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosisGabriel A Bien-Willner
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Hematol 79:309-13. 2005..2), discuss the potential prognostic value of this molecular diagnostic test, and examine the relevance of LCR-mediated NAHR to common rearrangements in neoplasms... - Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela 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... - An evolution revolution provides further revelationJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Bioessays 29:1182-4. 2007..Intriguingly, human lineage-specific gene amplification can be correlated to the emergence of human-specific traits such as cognition and endurance running... - Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine 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... - Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeWeimin 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... - Genomic rearrangements and sporadic diseaseJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B and Texas Children s Hospital Houston, Texas 77030, USA
Nat Genet 39:S43-7. 2007..Widespread implementation of high-resolution genome analyses to detect de novo copy-number variation may identify the cause of traits previously intractable to conventional genetic analyses... - RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteinsDaniel B Magner
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Cell 26:273-86. 2007..The data imply that RecQ promotes the net accumulation of BRIs in vivo, indicating a second paradigm for the in vivo effect of RecQ-like proteins. The E. coli RecQ paradigm may provide a useful model for some human RecQ homologs... - Evolution of ABCA4 proteins in vertebratesAlexander N Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Mol Evol 60:72-80. 2005..We speculate that evolutionary alterations may increase the retinoid metabolite recycling capacity of ABCA4 and may improve dark adaptation... - Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)Katherina Walz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 13:367-78. 2004..Our findings suggest that there is a gene(s) present in this defined genomic interval that is responsible for behavioral abnormalities in the mouse, as has been shown for the human syntenic region... - Triallelic inheritance: a bridge between Mendelian and multifactorial traitsErica 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... - Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2Weimin 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...