Publications by authors named "Mythily Ganapathi"

21Publications

A novel homozygous variant in results in a neurodevelopmental disorder and disrupts TRAPP complex function.

J Med Genet 2020 Aug 25. Epub 2020 Aug 25.

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA

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http://dx.doi.org/10.1136/jmedgenet-2020-107016DOI Listing
August 2020

Causal Genetic Variants in Stillbirth.

N Engl J Med 2020 09 12;383(12):1107-1116. Epub 2020 Aug 12.

From the Institute for Genomic Medicine at Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center (K.E.S., J.G., A.R.-P., M.E., N.L., H.H., G.P., J.H., V.A., R.J.W., D.B.G.), and the Departments of Obstetrics and Gynecology (J.G., R.G., R.J.W.) and Pathology and Cell Biology (C.B., A.T., M.G., J.L., A.V.D., V.A.), Columbia University Medical Center, New York; RTI International, Research Triangle Park (V.T., C.B.P.), and the Department of Biostatistics and Bioinformatics, Duke University, Durham (A.S.A.) - both in North Carolina; the Departments of Obstetrics and Gynecology and Cell Biology, University of Texas Medical Branch, Galveston (G.R.S.); the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville (D.J.D.); the Division of Perinatal and Pediatric Pathology, Women and Infants Hospital, Warren Alpert School of Medicine of Brown University, Providence, RI (H.P.); Rollins School of Public Health, Emory University, Atlanta (C.H.); Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Pregnancy and Perinatology Branch, Bethesda, MD (U.M.R.); and the University of Utah and Intermountain Healthcare, Salt Lake City (R.M.S.).

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http://dx.doi.org/10.1056/NEJMoa1908753DOI Listing
September 2020

Prenatal Diagnosis Using Chromosomal SNP Microarrays.

Methods Mol Biol 2019 ;1885:187-205

Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1007/978-1-4939-8889-1_13DOI Listing
June 2019

Effect of Bmi1 over-expression on gene expression in adult and embryonic murine neural stem cells.

Sci Rep 2018 05 10;8(1):7464. Epub 2018 May 10.

Laboratory of Molecular Genetics, Wadsworth Center, New York State Dept. of Health, Albany, NY, USA.

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http://dx.doi.org/10.1038/s41598-018-25921-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945652PMC
May 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

FTO variant associated with malformation syndrome.

Am J Med Genet A 2016 Apr 24;170A(4):1023-8. Epub 2015 Dec 24.

Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.37515DOI Listing
April 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Distinct role of Mediator tail module in regulation of SAGA-dependent, TATA-containing genes in yeast.

EMBO J 2012 Jan 4;31(1):44-57. Epub 2011 Oct 4.

Laboratory of Molecular Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12201-0509, USA.

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http://dx.doi.org/10.1038/emboj.2011.362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3252575PMC
January 2012

Extensive role of the general regulatory factors, Abf1 and Rap1, in determining genome-wide chromatin structure in budding yeast.

Nucleic Acids Res 2011 Mar 16;39(6):2032-44. Epub 2010 Nov 16.

Laboratory of Molecular Genetics, New York State Department of Health, Wadsworth Center, Albany, NY 12201-0509, USA.

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http://dx.doi.org/10.1093/nar/gkq1161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064788PMC
March 2011

Joanna Wysocka wins ISSCR Outstanding Young Investigator Award.

Cell Stem Cell 2010 Jun;6(6):533-4

The New York Neural Stem Cell Institute, Rensselaer, NY 12144, USA.

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http://dx.doi.org/10.1016/j.stem.2010.05.002DOI Listing
June 2010

Mining of putative cis-acting elements for chromatin mediated regulation of Hox genes in mammals by in-silico analysis.

J Exp Zool B Mol Dev Evol 2007 Jul;308(4):384-95

Dr. B.R. Ambedkar Centre for Biomedical Research, University of Delhi, Delhi, India.

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http://doi.wiley.com/10.1002/jez.b.21162
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http://dx.doi.org/10.1002/jez.b.21162DOI Listing
July 2007

A whole genome analysis of 5' regulatory regions of human genes for putative cis-acting modulators of nucleosome positioning.

Gene 2007 Apr 26;391(1-2):242-51. Epub 2007 Jan 26.

Dr. B. R. Ambedkar Centre for Biomedical Research, University of Delhi, Delhi-110007, India.

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http://dx.doi.org/10.1016/j.gene.2007.01.008DOI Listing
April 2007

Role of intrinsic disorder in transient interactions of hub proteins.

Proteins 2007 Mar;66(4):761-5

Institute of Genomics and Integrative Biology (CSIR), Delhi University Campus, Delhi, India.

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http://dx.doi.org/10.1002/prot.21281DOI Listing
March 2007

Intrinsic unstructuredness and abundance of PEST motifs in eukaryotic proteomes.

Proteins 2006 Feb;62(2):309-15

Institute of Genomics and Integrative Biology (CSIR), Delhi University Campus, Delhi, India.

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http://dx.doi.org/10.1002/prot.20746DOI Listing
February 2006

Comparative analysis of protein unfoldedness in human housekeeping and non-housekeeping proteins.

Bioinformatics 2004 Nov 4;20(17):2904-10. Epub 2004 Jun 4.

Institute of Genomics and Integrative Biology (CSIR), Delhi University Campus, Mall Road, Delhi 110 007, India.

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http://dx.doi.org/10.1093/bioinformatics/bth344DOI Listing
November 2004