Andrew J Sharp

Andrew J Sharp

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Andrew J Sharp

Publications by authors named "Andrew J Sharp"

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MsPAC: A tool for haplotype-phased structural variant detection.

Bioinformatics 2019 Aug 9. Epub 2019 Aug 9.

Department of Genetics and Data Science, Icahn School of Medicine at Mount Sinai, New York, USA.

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http://dx.doi.org/10.1093/bioinformatics/btz618DOI Listing
August 2019

Screening for rare epigenetic variations in autism and schizophrenia.

Hum Mutat 2019 Jul 21;40(7):952-961. Epub 2019 Mar 21.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Hess Center for Science and Medicine, New York, New York.

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http://dx.doi.org/10.1002/humu.23740DOI Listing
July 2019

A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome.

PLoS Genet 2018 10 1;14(10):e1007707. Epub 2018 Oct 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181428PMC
October 2018

Foxa2 identifies a cardiac progenitor population with ventricular differentiation potential.

Nat Commun 2017 02 14;8:14428. Epub 2017 Feb 14.

Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, Box 1040, 1470 Madison Avenue, New York, New York 10029, USA.

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http://dx.doi.org/10.1038/ncomms14428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316866PMC
February 2017

Placental expression profile of imprinted genes impacts birth weight.

Epigenetics 2015 17;10(9):842-9. Epub 2015 Jul 17.

a Department of Preventive Medicine ; Icahn School of Medicine at Mount Sinai ; New York , NY USA.

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http://dx.doi.org/10.1080/15592294.2015.1073881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623427PMC
June 2016

Expression of imprinted genes in placenta is associated with infant neurobehavioral development.

Epigenetics 2015 22;10(9):834-41. Epub 2015 Jul 22.

a Department of Epidemiology and Department of Pharmacology and Toxicology ; Geisel School of Medicine at Dartmouth College ; Hanover , NH USA.

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http://dx.doi.org/10.1080/15592294.2015.1073880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623032PMC
June 2016

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.

Nucleic Acids Res 2016 05 7;44(8):3750-62. Epub 2016 Apr 7.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

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http://dx.doi.org/10.1093/nar/gkw219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857002PMC
May 2016

Back to the past in schizophrenia genomics.

Nat Neurosci 2016 Jan;19(1):1-2

Departments of Psychiatry and Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/nn.4203DOI Listing
January 2016

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Eur J Hum Genet 2016 01 3;25(1):8-9. Epub 2016 Aug 3.

Cytogenetics Laboratory, Department of Pathology, Royal Columbian Hospital, New Westminster, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2016.104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159753PMC
January 2016

DNA Methylation: Insights into Human Evolution.

PLoS Genet 2015 Dec 10;11(12):e1005661. Epub 2015 Dec 10.

Institute of Evolutionary Biology (UPF-CSIC), PRBB, Barcelona, Spain.

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http://public-files.prbb.org/publicacions/b51e74e0-86cc-0133
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http://dx.plos.org/10.1371/journal.pgen.1005661
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http://dx.doi.org/10.1371/journal.pgen.1005661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684328PMC
December 2015

The interplay between DNA methylation and sequence divergence in recent human evolution.

Nucleic Acids Res 2015 Sep 13;43(17):8204-14. Epub 2015 Jul 13.

Institute of Evolutionary Biology (UPF-CSIC), PRBB, 08003 Barcelona, Spain Centro Nacional de Análisis Genómico (CNAG), Parc Científic de Barcelona, Barcelona 08028, Spain Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain

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http://dx.doi.org/10.1093/nar/gkv693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787803PMC
September 2015

The genetics of microdeletion and microduplication syndromes: an update.

Annu Rev Genomics Hum Genet 2014 16;15:215-244. Epub 2014 Apr 16.

Department of Pediatrics, University of Washington, Seattle, Washington 98195.

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http://dx.doi.org/10.1146/annurev-genom-091212-153408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476258PMC
May 2015

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

PLoS Genet 2015 Mar 24;11(3):e1005062. Epub 2015 Mar 24.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Université de Strasbourg, Illkirch, France; Institut Clinique de la Souris, PHENOMIN, GIE CERBM, Illkirch, France.

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http://dx.doi.org/10.1371/journal.pgen.1005062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372517PMC
March 2015

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Eur J Hum Genet 2014 Jun 30;22(6):822-30. Epub 2013 Oct 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/ejhg.2013.235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023210PMC
June 2014

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Eur J Hum Genet 2014 Apr 18;22(4):458-63. Epub 2013 Sep 18.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1038/ejhg.2013.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953911PMC
April 2014

Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains.

Nat Neurosci 2014 Jan 24;17(1):121-30. Epub 2013 Nov 24.

1] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/nn.3588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934491PMC
January 2014

Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.

Hum Mutat 2013 Sep 17;34(9):1304-11. Epub 2013 Jun 17.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.

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http://dx.doi.org/10.1002/humu.22359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745529PMC
September 2013

Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome".

PLoS Genet 2013 28;9(2):e1003332. Epub 2013 Feb 28.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1371/journal.pgen.1003332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585013PMC
June 2013

Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios.

PLoS One 2012 17;7(8):e41695. Epub 2012 Aug 17.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0041695PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422236PMC
April 2013

Whole genome methylation profiling by immunoprecipitation of methylated DNA.

Authors:
Andrew J Sharp

Methods Mol Biol 2012 ;925:69-78

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.

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http://link.springer.com/10.1007/978-1-62703-011-3_5
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http://dx.doi.org/10.1007/978-1-62703-011-3_5DOI Listing
December 2012

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.

Hum Genet 2012 Sep 30;131(9):1519-24. Epub 2012 May 30.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://link.springer.com/10.1007/s00439-012-1180-4
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http://dx.doi.org/10.1007/s00439-012-1180-4DOI Listing
September 2012

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Hum Mutat 2012 Aug 15;33(8):1302-9. Epub 2012 Jun 15.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.22115DOI Listing
August 2012

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

PLoS Genet 2012 May 31;8(5):e1002724. Epub 2012 May 31.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Translational Medicine and Neurogenetics, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964, Illkirch, France.

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http://dx.doi.org/10.1371/journal.pgen.1002724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3364940PMC
May 2012

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome.

Mamm Genome 2011 Dec 28;22(11-12):674-84. Epub 2011 Sep 28.

Institut de Génétique Biologie Moléculaire et Cellulaire, Translational Medicine and Neuroscience Program, Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1007/s00335-011-9356-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224224PMC
December 2011

DNA methylation profiles of human active and inactive X chromosomes.

Genome Res 2011 Oct 23;21(10):1592-600. Epub 2011 Aug 23.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1101/gr.112680.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202277PMC
October 2011

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Hum Mol Genet 2010 May 23;19(10):1967-73. Epub 2010 Feb 23.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq075DOI Listing
May 2010

The 2009 European Society of Human Genetics Meeting: novel technologies driving change.

Authors:
Andrew J Sharp

Genome Med 2009 Jul 6;1(7):67. Epub 2009 Jul 6.

Department of Genetic Medicine and Development, University of Geneva Medical School, CMU, Room 9148, 1 Rue Michel-Servet, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1186/gm67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717393PMC
July 2009

Emerging themes and new challenges in defining the role of structural variation in human disease.

Authors:
Andrew J Sharp

Hum Mutat 2009 Feb;30(2):135-44

Department of Genetic Medicine and Development, University of Geneva Medical School, University Medical Center (CMU), Geneva, Switzerland.

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http://doi.wiley.com/10.1002/humu.20843
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http://dx.doi.org/10.1002/humu.20843DOI Listing
February 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Potocki-Lupski syndrome mimicking a connective tissue disorder.

Clin Dysmorphol 2008 Jul;17(3):211-3

Magdalen College, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328303b9c2DOI Listing
July 2008

Structural variation of the human genome.

Annu Rev Genomics Hum Genet 2006 ;7:407-42

Department of Genome Sciences, University of Washington, Howard Hughes Medical Institute, Seattle, Washington 98195, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.genom.7.080
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http://dx.doi.org/10.1146/annurev.genom.7.080505.115618DOI Listing
April 2008

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number.

Hum Mol Genet 2007 Nov 28;16(22):2770-9. Epub 2007 Aug 28.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1093/hmg/ddm234DOI Listing
November 2007

Characterization of a recurrent 15q24 microdeletion syndrome.

Hum Mol Genet 2007 Mar 14;16(5):567-72. Epub 2007 Mar 14.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/hmg/ddm016DOI Listing
March 2007

High-throughput genotyping of intermediate-size structural variation.

Hum Mol Genet 2006 Apr 23;15(7):1159-67. Epub 2006 Feb 23.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/hmg/ddl031DOI Listing
April 2006

Fine-scale structural variation of the human genome.

Nat Genet 2005 Jul 15;37(7):727-32. Epub 2005 May 15.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street, Seattle, Washington 98195, USA.

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http://bioinfo.mc.vanderbilt.edu/journal_club2006/2005/05-11
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http://www.nature.com/doifinder/10.1038/ng1562
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http://dx.doi.org/10.1038/ng1562DOI Listing
July 2005

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

Hum Mol Genet 2002 Dec;11(25):3145-56

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.

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http://dx.doi.org/10.1093/hmg/11.25.3145DOI Listing
December 2002