Shimul Chowdhury

Shimul Chowdhury

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Shimul Chowdhury

Shimul Chowdhury

Publications by authors named "Shimul Chowdhury"

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19Publications

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Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage.

Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a003525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318776PMC
December 2018

Heterozygous WNT1 variant causing a variable bone phenotype.

Am J Med Genet A 2018 11 24;176(11):2419-2424. Epub 2018 Sep 24.

University of California, San Diego, La Jolla, California.

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http://dx.doi.org/10.1002/ajmg.a.40347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289778PMC
November 2018

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Pediatr Neurol 2018 09 10;86:69-70. Epub 2018 Jul 10.

Department of Neuroscience at the University of California, San Diego, San Diego, California; Department of Pediatrics at the University of California, San Diego, San Diego, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.06.002DOI Listing
September 2018

Rapid whole-genome sequencing identifies a novel variant associated with West syndrome.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Rady Children's Institute of Genomic Medicine (RCIGM), San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a001776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593154PMC
September 2017

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.

JAMA Pediatr 2014 Apr;168(4):371-7

Department of Pathology and Cell Biology, Institute for Cancer Genetics, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1001/jamapediatrics.2013.4858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981910PMC
April 2014

Associations between maternal genotypes and metabolites implicated in congenital heart defects.

Mol Genet Metab 2012 Nov 27;107(3):596-604. Epub 2012 Sep 27.

Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Research Institute, 13 Children's Way, Slot 512, Little Rock, AR 72202, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523122PMC
November 2012

Maternal DNA hypomethylation and congenital heart defects.

Birth Defects Res A Clin Mol Teratol 2011 Feb 19;91(2):69-76. Epub 2011 Jan 19.

Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Research Institute, 13 Children's Way, Little Rock, AR 72202, USA.

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http://dx.doi.org/10.1002/bdra.20761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168545PMC
February 2011

Maternal genome-wide DNA methylation patterns and congenital heart defects.

PLoS One 2011 Jan 24;6(1):e16506. Epub 2011 Jan 24.

Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Research Institute, Little Rock, Arkansas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0016506PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031146PMC
January 2011

Decreased expression of tumor necrosis factor family receptors involved in humoral immune responses in preterm neonates.

Blood 2007 Oct 18;110(8):2948-54. Epub 2007 Jul 18.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis MN 55455, USA.

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http://dx.doi.org/10.1182/blood-2007-01-069245DOI Listing
October 2007