John W Belmont

John W Belmont

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John W Belmont

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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Am J Med Genet A 2019 Mar 19;179(3):475-479. Epub 2018 Dec 19.

Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61007DOI Listing
March 2019

Correction: Estimating the burden and economic impact of pediatric genetic disease.

Genet Med 2019 Feb 14. Epub 2019 Feb 14.

Illumina, Inc., 5200 Illumina Way, San Diego, CA, USA.

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http://dx.doi.org/10.1038/s41436-019-0458-5DOI Listing
February 2019

Estimating the burden and economic impact of pediatric genetic disease.

Genet Med 2018 Dec 20. Epub 2018 Dec 20.

Illumina, Inc., 5200 Illumina Way, San Diego, 92122, CA, USA.

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http://dx.doi.org/10.1038/s41436-018-0398-5DOI Listing
December 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Philos Trans R Soc Lond B Biol Sci 2016 12;371(1710)

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

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http://dx.doi.org/10.1098/rstb.2015.0406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104505PMC
December 2016

Clinical bioinformatics: emergence of a new laboratory discipline.

Expert Rev Mol Diagn 2016 11 20;16(11):1139-1141. Epub 2016 Oct 20.

b Department of Molecular and Human Genetics, Director of Bioinformatics, Baylor Genetics Laboratories , Baylor College of Medicine , Houston , TX , USA.

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http://dx.doi.org/10.1080/14737159.2016.1246184DOI Listing
November 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Racial disparities in heterotaxy syndrome.

Birth Defects Res A Clin Mol Teratol 2015 Nov 2;103(11):941-50. Epub 2015 Sep 2.

Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23416DOI Listing
November 2015

A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.

Transfus Med Hemother 2014 Nov 7;41(6):453-61. Epub 2014 Nov 7.

Department of Pathology, Texas Heart Institute, Baylor St. Luke's Medical Center, Houston, TX, USA.

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http://dx.doi.org/10.1159/000369079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280456PMC
November 2014

Genetic basis of congenital cardiovascular malformations.

Eur J Med Genet 2014 Aug 30;57(8):402-13. Epub 2014 Apr 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152939PMC
August 2014

The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck.

Nat Commun 2014 Apr 9;5:3618. Epub 2014 Apr 9.

1] Immunology Research Center, National Health Research Institutes, Zhunan 35053, Taiwan [2] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ncomms4618DOI Listing
April 2014

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1038/ng.2768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821386PMC
November 2013

Runs of homozygosity and parental relatedness.

Genet Med 2013 Sep;15(9):753-4

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http://dx.doi.org/10.1038/gim.2013.108DOI Listing
September 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Integrative genomic analysis of the human immune response to influenza vaccination.

Elife 2013 Jul 16;2:e00299. Epub 2013 Jul 16.

Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , United States ; Department of Medicine , Baylor College of Medicine , Houston , United States.

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http://dx.doi.org/10.7554/eLife.00299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713456PMC
July 2013

Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development.

Hum Mol Genet 2013 Mar 25;22(5):879-89. Epub 2012 Nov 25.

Department of Molecular and Human Genetics, Texas Children’s Hospital, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/dds494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606008PMC
March 2013

Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.

J Infect Dis 2013 Mar 10;207(6):974-81. Epub 2013 Jan 10.

Departments of Molecular Virology and Microbiology and Medicine, Baylor College of Medicine, One Baylor Plaza, MS BCM280, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/infdis/jis935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633450PMC
March 2013

The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Dec 26;94(12):1004-9. Epub 2012 Oct 26.

The University of Texas Medical School, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdra.23077DOI Listing
December 2012

Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.

J Lipid Res 2012 Nov 15;53(11):2425-8. Epub 2012 Aug 15.

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA.

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http://dx.doi.org/10.1194/jlr.M028829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466010PMC
November 2012

Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Nov 2;94(11):951-4. Epub 2012 Nov 2.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdra.23091DOI Listing
November 2012

Impact of restricted marital practices on genetic variation in an endogamous Gujarati group.

Am J Phys Anthropol 2012 Sep 23;149(1):92-103. Epub 2012 Jun 23.

Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1002/ajpa.22101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436606PMC
September 2012

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Am J Med Genet A 2011 Dec 3;155A(12):3025-9. Epub 2011 Nov 3.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33784DOI Listing
December 2011

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Genome Biol 2011 Sep 21;12(9):R91. Epub 2011 Sep 21.

Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1186/gb-2011-12-9-r91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308054PMC
September 2011

Clan genomics and the complex architecture of human disease.

Cell 2011 Sep;147(1):32-43

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.cell.2011.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656718PMC
September 2011

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Am J Med Genet A 2011 Jul 2;155A(7):1574-80. Epub 2011 Jun 2.

Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121908PMC
July 2011

Dilation of the aortic root in mitochondrial disease patients.

Mol Genet Metab 2011 Jun 18;103(2):167-70. Epub 2011 Feb 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.007DOI Listing
June 2011

Genetic disorders with both hearing loss and cardiovascular abnormalities.

Adv Otorhinolaryngol 2011 24;70:66-74. Epub 2011 Feb 24.

Department of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, Houston, Tex., USA.

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http://dx.doi.org/10.1159/000322474DOI Listing
May 2011

Left ventricular noncompaction in Sotos syndrome.

Am J Med Genet A 2011 May 11;155A(5):1115-8. Epub 2011 Apr 11.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.

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http://dx.doi.org/10.1002/ajmg.a.33838DOI Listing
May 2011

Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans.

J Infect Dis 2011 Apr 28;203(7):921-9. Epub 2011 Feb 28.

Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas 77030-2504, USA.

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http://dx.doi.org/10.1093/infdis/jiq156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068032PMC
April 2011

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

Birth Defects Res A Clin Mol Teratol 2011 Mar 2;91(3):162-8. Epub 2011 Feb 2.

Center for Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/bdra.20764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736588PMC
March 2011

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proc Natl Acad Sci U S A 2011 Feb 31;108(7):2915-20. Epub 2011 Jan 31.

Department of Genetics, The Howard Hughes Medical Institute,Yale University School of Medicine, New Haven, CT 06520, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1019645108
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http://dx.doi.org/10.1073/pnas.1019645108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041108PMC
February 2011

Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Am J Med Genet A 2010 Sep;152A(9):2399-405

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724369PMC
September 2010

FBN1 mutations in patients with descending thoracic aortic dissections.

Am J Med Genet A 2010 Feb;152A(2):413-6

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32856
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http://dx.doi.org/10.1002/ajmg.a.32856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593235PMC
February 2010

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Pediatr Cardiol 2010 Jan 1;31(1):114-6. Epub 2009 Oct 1.

Section of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin, MC 19345-C, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00246-009-9537-8DOI Listing
January 2010

Novel cardiac findings in periventricular nodular heterotopia.

Am J Med Genet A 2010 Jan;152A(1):165-8

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33110
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http://dx.doi.org/10.1002/ajmg.a.33110DOI Listing
January 2010

"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling.

Transl Res 2009 Dec 6;154(6):288-94. Epub 2009 Oct 6.

Department of Medicine (Section of Infectious Diseases), Baylor College of Medicine, Houston, Tex. 77030, USA.

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http://dx.doi.org/10.1016/j.trsl.2009.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830892PMC
December 2009

Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.

BMC Genet 2009 Dec 18;10:85. Epub 2009 Dec 18.

Department of Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1186/1471-2156-10-85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2803178PMC
December 2009

The Twiddling Andersen.

Tex Heart Inst J 2009 ;36(4):349-51

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720289PMC
October 2009

Analysis of East Asia genetic substructure using genome-wide SNP arrays.

PLoS One 2008 5;3(12):e3862. Epub 2008 Dec 5.

Department of Biochemistry, Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0003862PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587696PMC
January 2009

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Hum Mol Genet 2008 Sep 30;17(18):2886-93. Epub 2008 Jun 30.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddn187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722892PMC
September 2008

Array-based DNA diagnostics: let the revolution begin.

Annu Rev Med 2008 ;59:113-29

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1146/annurev.med.59.012907.101800DOI Listing
May 2008

Characterization of the interactions of human ZIC3 mutants with GLI3.

Hum Mutat 2008 Jan;29(1):99-105

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/humu.20606DOI Listing
January 2008

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/In
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http://www.nature.com/doifinder/10.1038/nature06258
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http://dx.doi.org/10.1038/nature06258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

Identification of a novel role of ZIC3 in regulating cardiac development.

Hum Mol Genet 2007 Jul 27;16(14):1649-60. Epub 2007 Apr 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddm106DOI Listing
July 2007

Upper gastrointestinal malformations in Coffin-Siris syndrome.

Am J Med Genet A 2007 Jul;143A(13):1519-21

Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, 6621 Fannin Street, Houston, TX 77030, USA.

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July 2007

Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette.

Front Biosci 2007 Jan 1;12:1680-90. Epub 2007 Jan 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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January 2007

European population substructure: clustering of northern and southern populations.

PLoS Genet 2006 Sep 25;2(9):e143. Epub 2006 Jul 25.

Rowe Program in Human Genetics, Departments of Biological Chemistry and Medicine, University of California Davis, Davis, California, United States of America.

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https://dx.plos.org/10.1371/journal.pgen.0020143
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1564423PMC
September 2006