Research Topics
Genomes and Genes | Weimin BiSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 12:713-28. 2002..Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model...- 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... - RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndromeWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 3498, USA
Am J Med Genet A 140:2454-63. 2006.... - 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... - Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alikeJiong Yan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 80:518-25. 2007.... - Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypesWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
Hum Mol Genet 16:1802-13. 2007.... - Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndromeJiong Yan
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Hum Mol Genet 13:2613-24. 2004..Our mouse models refined the genomic region important for a portion of the SMS phenotype and provided a basis for further molecular analysis of genes associated with SMS... - 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... - 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... - Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndromeWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 14:983-95. 2005.... - 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... - 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... - 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.... - Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGHWeimin 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... - Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2Christine J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 71:1072-81. 2002.... - 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)... - 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... - Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA
Hum Genet 120:211-26. 2006..Evaluations of these null mice have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human BBS phenotype... - 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... - 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.... - 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... - A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)Luis A Umaña
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas
Am J Med Genet A 155:3071-4. 2011..This is the first report in the literature of Fanconi anemia complementation group B detected by oligonucleotide array testing postnatally. © 2011 Wiley Periodicals, Inc... - Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxWeining Lu
Genetics Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 80:616-32. 2007..Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR...