A. Sharp

发表

Fine-scale structural variation of the human genome

E. Eichler, J. Bailey, D. Pinkel, 2005, Nature Genetics.

Segmental duplications and copy-number variation in the human genome.

E. Eichler, J. Bailey, Royden A. Clark, 2005, American journal of human genetics.

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

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Pervasive cis effects of variation in copy number of large tandem repeats on local epigenetics and gene expression

A. Sharp, O. Rodriguez, P. Garg, 2020, bioRxiv.

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

Mara Dierssen, Y. Hérault, A. Sharp, 2015, PLoS genetics.

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.

E. Eichler, S. Schwartz, S. Mccarroll, 2006, American journal of human genetics.

Foxa2 identifies a cardiac progenitor population with ventricular differentiation potential

A. Sharp, J. Epstein, Rajan Jain, 2017, Nature Communications.

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

A. Sharp, M. Gymrek, Yaniv Erlich, 2016, Nucleic acids research.

Structural variation of the human genome.

Andrew J Sharp, Evan E Eichler, E. Eichler, 2006, Annual review of genomics and human genetics.

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1

A. Sharp, A. Lucassen, G. Pichert, 2004, Human mutation.

High-throughput genotyping of intermediate-size structural variation.

Deborah A Nickerson, Andrew J Sharp, Evan E Eichler, 2006, Human molecular genetics.

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

A. Sharp, N. S. Thomas, C. Watson, 2014, Human molecular genetics.

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

Hugh E. Olsen, J. Gécz, A. Sharp, 2020, bioRxiv.

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.

J. Gécz, A. Sharp, B. Paten, 2020, American journal of human genetics.

Identification of rare de novo epigenetic variations in congenital disorders

L. Vissers, J. Buxbaum, A. Sharp, 2018, bioRxiv.

A meta-analysis of epigenome-wide association studies in Alzheimer’s disease highlights novel differentially methylated loci across cortex

Alan J. Thomas, M. Weedon, D. Bennett, 2020, Nature Communications.

A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus

E. Eichler, R. Sebra, A. Bashir, 2020, bioRxiv.

Screening for rare epigenetic variations in autism and schizophrenia

A. Sharp, P. Garg, 2019, Human mutation.

RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting

J. V. van Meurs, A. Sharp, L. Franke, 2018, BMC Biology.

RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting

J. V. van Meurs, A. Sharp, L. Franke, 2018, BMC Biology.

Fumarates target the metabolic-epigenetic interplay of brain-homing T cells in multiple sclerosis

A. Sharp, C. Watson, Vasilis Ntranos, 2019, Brain : a journal of neurology.

Genome-Wide DNA Methylation Profiling Reveals Epigenetic Changes in the Rat Nucleus Accumbens Associated With Cross-Generational Effects of Adolescent THC Exposure

A. Sharp, Y. Hurd, C. Watson, 2015, Neuropsychopharmacology.

A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.

A. Sharp, William Lee, O. Rodriguez, 2022, American journal of human genetics.

Dual transcriptomic and epigenomic study of reaction severity in peanut allergic children.

E. Schadt, A. Sharp, A. Cohain, 2019, The Journal of allergy and clinical immunology.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

K. B. Manheimer, W. Chung, J. Seidman, 2017, bioRxiv.

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

W. Chung, J. Seidman, A. Sharp, 2020, PLoS genetics.

Genome-wide DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer’s disease

A. Sharp, V. Haroutunian, C. Watson, 2016, Genome Medicine.

The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome

Y. Hérault, A. Sharp, V. Brault, 2011, Behavioural Brain Research.

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing

Allison H Seiden, H. Shah, R. Sebra, 2020, Human mutation.

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.

A. Sharp, I. Temple, H. Bullman, 1999 .

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

A. Sharp, S. Antonarakis, H. Brunner, 2010, Genome research.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Potocki-Lupski syndrome mimicking a connective tissue disorder.

E. Eichler, A. Sharp, S. Knight, 2008, Clinical dysmorphology.

Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions

E E Schadt, H. Shah, E. Schadt, 2017, Nature Communications.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J Sharp, Edward Blair, Stuart Schwartz, 2006, Nature Genetics.

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

Jun Zhu, A. Sharp, V. Haroutunian, 2013, Nature Neuroscience.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Ulrich Stephani, 2009, Nature Genetics.

ORE identifies extreme expression effects enriched for rare variants

F. Richter, G. E. Hoffman, K. B. Manheimer, 2019, Bioinform..

DNA methylation profiles of human active and inactive X chromosomes.

Andrew J Sharp, Stephen B Montgomery, Manisha Brahmachary, 2011, Genome research.

Xp deletions associated with autism in three females

D. Skuse, A. Sharp, N. S. Thomas, 1999, Human Genetics.

A study of females with deletions of the short arm of the X chromosome

D. Skuse, A. Sharp, N. S. Thomas, 1998, Human Genetics.

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

A. Sharp, P. Jacobs, D. Robinson, 2000, Human Genetics.

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)

Arcadi Navarro, Joel Armstrong, Benedict Paten, 2017, GigaScience.

Abundant contribution of short tandem repeats to gene expression variation in humans

Yaniv Erlich, Melissa Gymrek, Andrew J Sharp, 2015, Nature Genetics.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Xavier Estivill, Andrew J Sharp, Stefano Vicari, 2013, Genome research.

CNVs and genetic medicine (excitement and consequences of a rediscovery)

J. Beckmann, A. Sharp, S. Antonarakis, 2009, Cytogenetic and Genome Research.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

H. Mefford, E. Eichler, R. Regan, 2008, Journal of Medical Genetics.

L1 repeats in the spread of X chromosome inactivation

A. Sharp, N. S. Thomas, C. Watson, 2013 .

The genetics of microdeletion and microduplication syndromes: an update.

Andrew J Sharp, Heather C Mefford, H. Mefford, 2014, Annual review of genomics and human genetics.

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome

A. Sharp, I. Temple, H. Bullman, 1999, Human Genetics.

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

A. Sharp, C. Watson, P. Garg, 2018, PLoS genetics.

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

A. Sharp, C. Watson, P. Garg, 2017, bioRxiv.

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

A. Sharp, C. Watson, P. Garg, 2017, bioRxiv.

DNA Methylation: Insights into Human Evolution

T. Marquès-Bonet, A. Sharp, I. Hernando-Herraez, 2015, PLoS genetics.

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

T. Marquès-Bonet, A. Sharp, M. Esteller, 2015, bioRxiv.

Dynamics of DNA Methylation in Recent Human and Great Ape Evolution

T. Marquès-Bonet, A. Sharp, M. Esteller, 2013, PLoS genetics.

Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression.

A. Sharp, B. Paten, O. Rodriguez, 2021, American journal of human genetics.

Genome-wide12 DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer’s disease

A. Sharp, V. Haroutunian, C. Watson, 2016, Genome Medicine.

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.

A. Sharp, N. S. Thomas, P. Jacobs, 2001, Human molecular genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing

A. Sharp, S. Antonarakis, S. Nikolaev, 2009, PloS one.

Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome

A. Sharp, T. Eggermann, G. Moore, 2001, European Journal of Human Genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

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

E. Eichler, S. Schwartz, C. Alkan, 2007, Human molecular genetics.

Characterization of a recurrent 15q24 microdeletion syndrome.

B. D. de Vries, E. Eichler, R. Regan, 2007, Human molecular genetics.

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

J. Rosenfeld, W. Chung, L. Shaffer, 2013, Circulation. Cardiovascular genetics.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus

Gintaras Deikus, Ali Bashir, Evan E. Eichler, 2020, bioRxiv.

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

A. Battaglia, C. Freitag, A. Kolevzon, 2020, American journal of human genetics.

Digital Genotyping of Macrosatellites and Multicopy Genes Reveals Novel Biological Functions Associated with Copy Number Variation of Large Tandem Repeats

A. Sharp, P. Warburton, Dan Hasson, 2014, PLoS genetics.

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High‐Throughput Sequencing

A. Sharp, G. Highnam, D. Mittelman, 2013, Human Mutation.

Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.

A. Sharp, R. Loos, R. Birnbaum, 2022, JAMA psychiatry.

DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition

A. Sharp, F. Champagne, E. Ginns, 2016, Biological Psychiatry.

MsPAC: a tool for haplotype-phased structural variant detection

Ali Bashir, Anna M. Ritz, Oscar L Rodriguez, 2019, Bioinform..

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

Andrew J Sharp, Edward J Hollox, A. Sharp, 2013, European Journal of Human Genetics.

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

A. Sharp, 2009, Human mutation.

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

A. Sharp, B. Turner, P. Jacobs, 2002, Human molecular genetics.

Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation

A. Sharp, P. Jacobs, D. Robinson, 2001, Human Genetics.

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

A. Sharp, B. Lester, L. Lambertini, 2015, Epigenetics.

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

A. Sharp, S. Antonarakis, S. Gimelli, 2010, Human molecular genetics.

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

M. Robinson, T. Marquès-Bonet, A. Sharp, 2015, bioRxiv.

Comment on “Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome”

A. Sharp, C. Watson, P. Garg, 2013, PLoS genetics.

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

A. Sharp, S. Antonarakis, F. Béna, 2012, Journal of Medical Genetics.

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

A. Sharp, D. Forni, M. Sironi, 2015, BMC Genomics.

identifies novel differentially methylated regions on chromosome Methylation profiling in individuals with uniparental disomy Material Supplemental

A. Sharp, S. Antonarakis, H. Brunner, 2017 .

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

A. Sharp, S. Eliez, N. S. Thomas, 2012, Human Genetics.

Assessing the burden of rare DNA methylation deviations in schizophrenia

A. Sharp, A. McQuillin, J. Mill, 2023, bioRxiv.

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

A. Battaglia, C. Freitag, A. Kolevzon, 2020, bioRxiv.

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

Y. Hérault, A. Sharp, A. Duchon, 2011, Mammalian Genome.

LINE repeats are associated with the spread of X inactivation

A. Sharp, W. Tapper, P. Jacobs, 2002 .

Placental expression profile of imprinted genes impacts birth weight

A. Sharp, L. Lambertini, C. Marsit, 2015, Epigenetics.

Loss of RNA expression and allele-specific expression associated with congenital heart disease

Yufeng Shen, Andrew J Sharp, Nihir Patel, 2016, Nature Communications.

Tandem repeat sequence variation as causative Cis‐eQTLs for protein‐coding gene expression variation: The case of CSTB

E. Dermitzakis, A. Sharp, S. Antonarakis, 2012, Human mutation.

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

A. Sharp, M. Rubini, R. Steegers-Theunissen, 2013, European Journal of Human Genetics.

Detection of Parent-of-Origin Specific Expression Quantitative Trait Loci by Cis-Association Analysis of Gene Expression in Trios

A. Sharp, C. Borel, P. Garg, 2012, PloS one.

Feeder-Free Generation of Endocardial and Cardiac Valve Cells from Human Pluripotent Stem Cells

A. Sharp, B. Gelb, B. Jadhav, 2023, bioRxiv.

Notch Signaling Commits Mesoderm to the Cardiac Lineage

A. Sharp, A. Rezza, B. Jadhav, 2020, bioRxiv.

Back to the past in schizophrenia genomics

Andrew J Sharp, A. Sharp, S. Akbarian, 2015, Nature Neuroscience.

Whole genome methylation profiling by immunoprecipitation of methylated DNA.

A. Sharp, 2012, Methods in molecular biology.

Duplication of 7 p 12 . 1p 13 , including GRB 10 and IGFBP 1 , in a mother and daughter with features of Silver-Russell syndrome

A. Sharp, I. Temple, Joanna M Walker, 2022 .

Limitations of lymphoblastoid cell lines for establishing genetic reference datasets in the immunoglobulin loci

A. Sharp, O. Rodriguez, C. Watson, 2021, bioRxiv.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

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

A. Sharp, J. Barber, E. Hollox, 2016, European Journal of Human Genetics.

Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13.

A. Sharp, T. Eggermann, H. Wollmann, 2001, Genetic testing.

Small open reading frames: a comparative genetics approach to validation

A. Sharp, I. Adzhubei, B. Gelb, 2023, BMC Genomics.

Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions

H. Shah, E. Schadt, A. Sharp, 2017, Nature Communications.

A GCC repeat expansion in AFF3 is a significant cause of intellectual disability

A. Sharp, B. Paten, J. Veldink, 2023, medRxiv.

The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model

Y. Hérault, A. Sharp, D. Dembélé, 2012, PLoS genetics.

Meta-analysis of epigenome-wide association studies in Alzheimer’s disease highlights 220 differentially methylated loci across cortex

M. Weedon, A. Sharp, V. Haroutunian, 2020 .

Genome-wide12 DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer’s disease

A. Sharp, V. Haroutunian, C. Watson, 2016, Genome Medicine.

POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS

M. Caulfield, A. Sharp, M. Shoai, 2023, medRxiv.

Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation

A. Sharp, P. Garg, A. Martin-Trujillo, 2022, Genome research.

Human Mutation

A. Sharp, P. Garg, 2019 .