M. Dorschner

发表

Mapping and sequencing of structural variation from eight human genomes

Joshua M. Korn, Nancy F. Hansen, D. Altshuler, 2008, Nature.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

William Stafford Noble, Nancy R. Zhang, Stephen C. J. Parker, 2007, Nature.

Comprehensive mapping of long range interactions reveals folding principles of the human genome

I. Amit, A. Gnirke, E. Lander, 2011 .

The accessible chromatin landscape of the human genome

Nathan C. Sheffield, Shane J. Neph, Matthew T. Maurano, 2012, Nature.

An Integrated Encyclopedia of DNA Elements in the Human Genome

Raymond K. Auerbach, William Stafford Noble, Stephen C. J. Parker, 2012, Nature.

The ENCODE (ENCyclopedia Of DNA Elements) Project

Paul T. Groth, William Stafford Noble, Colin N. Dewey, 2004, Science.

Discovery of functional noncoding elements by digital analysis of chromatin structure.

J. Stamatoyannopoulos, M. Hawrylycz, M. Dorschner, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays

William Stafford Noble, J. Stamatoyannopoulos, M. Hawrylycz, 2006, Nature Methods.

Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries.

J. Stamatoyannopoulos, M. Hawrylycz, M. Dorschner, 2004, Proceedings of the National Academy of Sciences of the United States of America.

High-throughput localization of functional elements by quantitative chromatin profiling

J. Stamatoyannopoulos, M. Hawrylycz, J. Goldy, 2004, Nature Methods.

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project

Hiep D. Nguyen, K. Lunetta, J. Haines, 2018, Dementia and Geriatric Cognitive Disorders.

Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion

M. Dorschner, K. Stephens, S. H. Forbes, 2004, Genes, chromosomes & cancer.

Regulatory changes raise troubling questions for genomic testing

M. Dorschner, B. Evans, G. Jarvik, 2014, Genetics in Medicine.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Emily H Turner, T. Walsh, D. Nickerson, 2013, American journal of human genetics.

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

M. Dorschner, I. Glass, D. Doherty, 2017, American journal of human genetics.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Refining the structure and content of clinical genomic reports

Peter Tarczy-Hornoch, Laura M Amendola, Gail P Jarvik, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies

William Stafford Noble, John T. Halloran, J. Bilmes, 2017, bioRxiv.

The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1).

Michael O Dorschner, Yi Zhou, Leonard I Zon, 2002, Blood.

Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells.

Michael O. Dorschner, John A. Stamatoyannopoulos, Stuart H. Orkin, 2008, Genes & development.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.

Peter Tarczy-Hornoch, Deborah A Nickerson, Laura M Amendola, 2014, Contemporary clinical trials.

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study

D. Nickerson, C. Bustamante, E. Ashley, 2017, Circulation. Cardiovascular genetics.

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

Shane J. Neph, A. Reymond, J. Stamatoyannopoulos, 2008, Genome Biology.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Variant Interpretation for Dilated Cardiomyopathy

D. Nickerson, H. Rehm, M. Dorschner, 2020, Circulation. Genomic and precision medicine.

High levels of MHC class II allelic diversity in lake trout from Lake Superior.

M. Dorschner, R. Phillips, C. Bronte, 2000, The Journal of heredity.

{\alpha}7 nicotinic acetylcholine receptor signaling modulates ovine fetal brain astrocytes transcriptome in response to endotoxin: comparison to microglia, implications for prenatal stress and development of autism spectrum disorder

Martin G. Frasch, James W. MacDonald, M. Weaver, 2018 .

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

D. Sillence, M. Dorschner, D. Lessel, 2018, Molecular genetics & genomic medicine.

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

O. Korvatska, M. Dorschner, J. Satoh, 2020, Frontiers in Immunology.

TREM2 R47H exacerbates immune response in Alzheimer’s disease brain

O. Korvatska, M. Dorschner, J. Satoh, 2018, bioRxiv.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

D. Nickerson, S. Fullerton, M. Dorschner, 2019, Contemporary clinical trials.

Sequence analysis of the mitochondrial DNA control region of ciscoes (genus Coregonus): taxonomic implications for the Great Lakes species flock

T. N. Todd, M. Dorschner, K. Reed, 1998, Molecular ecology.

Genomic profiling of anaplastic meningioma identifies recurrent genetic alterations with relevance to lower‐grade meningioma

M. Dorschner, J. Warrick, Manuel Ferreira, 2019, Neuropathology and applied neurobiology.

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.

M. Dorschner, K. Goddard, B. Wilfond, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot

M. Dorschner, T. Bird, I. Mata, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.

M. Dorschner, K. Stephens, Deborah Barden, 2002, The Journal of molecular diagnostics : JMD.

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

M. Dorschner, I. Mata, D. Hanna, 2017, Neurobiology of Aging.

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

H. Rehm, M. Dorschner, J. Ralston, 2019, American journal of human genetics.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Mahdi Sarmady, Rashesh V. Sanghvi, Christian J. Buhay, 2017, Genetics in Medicine.

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

Peter Tarczy-Hornoch, Laura M Amendola, Gail P Jarvik, 2015, Genetics in Medicine.

Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features

A. Weiss, M. Dorschner, I. Glass, 2021, Neuropediatrics.

Comparative analysis of two Nramp loci from rainbow trout.

M. Dorschner, R. Phillips, 1999, DNA and cell biology.

Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests

M. Dorschner, G. Jarvik, R. Bennett, 2019, Journal of genetic counseling.

Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots

M. Dorschner, D. Tsuang, M. Stella, 2022, Movement disorders : official journal of the Movement Disorder Society.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Jonathan A. Cooper, E. Haan, D. Nickerson, 2018, American journal of human genetics.

Sequencing newly replicated DNA reveals widespread plasticity in human replication timing

Michael O Dorschner, R. Sandstrom, J. Stamatoyannopoulos, 2009, Proceedings of the National Academy of Sciences.

An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features

M. Dorschner, T. Bird, M. Scavina, 2018, Muscle & nerve.

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

M. Dorschner, Kelly D. Smith, F. Hisama, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

M. Weaver, M. Dorschner, K. Stephens, 2000, Human molecular genetics.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

D. Nickerson, M. Dorschner, K. Goddard, 2018, American journal of human genetics.

Recombination hotspot in NF1 microdeletion patients.

M. Dorschner, P. Marynen, C. Lázaro, 2001, Human molecular genetics.

Next‐generation sequencing in schizophrenia and other neuropsychiatric disorders

M. Dorschner, D. Tsuang, M. Schreiber, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Erez Lieberman-Aiden Principles of the Human Genome Comprehensive Mapping of Long-Range Interactions Reveals Folding

I. Amit, A. Gnirke, E. Lander, 2012 .

Human Genome Interactions Reveals Folding Principles of the Comprehensive Mapping of Long-Range

I. Amit, A. Gnirke, E. Lander, 2009 .

Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ

Michael O Dorschner, J. Stamatoyannopoulos, M. Dorschner, 2007, Nature Immunology.

Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds

M. Dorschner, Malia B McAvoy, C. Parada, 2022, Journal of the American Heart Association.

locus in ES cells Oct 4 dependence of chromatin structure within the extended Nanog

J. Stamatoyannopoulos, M. Dorschner, S. Orkin, 2007 .

E. Eichler, O. Korvatska, M. Dorschner, 2015, Neurology.

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

O. Korvatska, M. Dorschner, S. Girirajan, 2015, JAMA neurology.

Homozygous CADPS2 mutations cause neurodegenerative disease with Lewy bodies in parrots

G. Rossi, M. Dorschner, D. Tsuang, 2022, bioRxiv.

Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies

William Stafford Noble, Jie Liu, Jay Shendure, 2017, Scientific Reports.

A Distributed Network for Intensive Longitudinal Monitoring in Metastatic Triple-Negative Breast Cancer.

Chris P. Miller, D. Haussler, Su-In Lee, 2016, Journal of the National Comprehensive Cancer Network : JNCCN.

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

D. Nickerson, M. Dorschner, K. Goddard, 2016, Contemporary clinical trials.

Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.

Kathleen F. Mittendorf, M. Dorschner, K. Goddard, 2021, Contemporary clinical trials.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

D. Nickerson, M. Dorschner, K. Goddard, 2017, Genetics in Medicine.

Building a family network from genetic testing

M. Dorschner, J. Ralston, A. Hartzler, 2016, Molecular genetics & genomic medicine.

Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer

M. Dorschner, Janusz Dutkowski, B. Mecham, 2022, JCO precision oncology.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Carl Baker, Santhosh Girirajan, Michael O Dorschner, 2013, JAMA psychiatry.

The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

M. Dorschner, A. Samii, S. Factor, 2015, Molecular Neurodegeneration.

Title The RAB 39 B p . G 192 R mutation causes X-linked dominant Parkinson ' s disease Permalink

M. Dorschner, A. Samii, S. Factor, 2015 .

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

M. Dorschner, Daniel Bates, I. Glass, 2009, Journal of Medical Genetics.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Cis-Compound Mutations are Prevalent in Triple Negative Breast Cancer and Can Drive Tumor Progression

William Stafford Noble, W. L. Ruzzo, D. Haussler, 2016, bioRxiv.

CCCTC-binding factor and the transcription factor T-bet orchestrate T helper 1 cell-specific structure and function at the interferon-gamma locus.

R. Sandstrom, J. Stamatoyannopoulos, M. Dorschner, 2009, Immunity.

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

M. Dorschner, P. Byers, W. Dobyns, 2019, American journal of human genetics.

Gammaretroviral vector integration occurs overwhelmingly within and near DNase hypersensitive sites.

C. L. Li, J. Stamatoyannopoulos, M. Dorschner, 2012, Human gene therapy.

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Hiep D. Nguyen, J. Bressler, M. Fornage, 2018, Alzheimer's & Dementia.

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

E. Wijsman, M. Dorschner, T. Grabowski, 2019, Annals of clinical and translational neurology.

The zebrafish mutant gene chardonnay encodes Divalent Metal Transporter 1 ( DMT 1 )

A. Brownlie, A. Donovan, B. Paw, 2002 .

Rare loss of function variants in candidate genes and risk of colorectal cancer

Taylor J. Maxwell, Jennifer G. Robinson, Andrew J. Sanford, 2018, Human Genetics.

Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease

James Jaworski, Mohamad Saad, Eric Boerwinkle, 2018, Annals of clinical and translational neurology.

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

A. Breman, M. Dorschner, B. Friemel, 2015, BMC Cancer.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot

M. Dorschner, T. Bird, I. Mata, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Next-Generation Sequencing for Gene Panels

Michael O. Dorschner, M. Dorschner, 2018, Genomic Applications in Pathology.

Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia

M. Dorschner, T. Bird, C. Keene, 2021, Neuropathology : official journal of the Japanese Society of Neuropathology.

α7 Nicotinic Acetylcholine Receptor Signaling Modulates Ovine Fetal Brain Astrocytes Transcriptome in Response to Endotoxin

Martin G. Frasch, James W. MacDonald, M. Weaver, 2018, Front. Immunol..

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

M. Dorschner, H. Hameister, H. Kehrer-Sawatzki, 2003, Genes, chromosomes & cancer.

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.

M. Dorschner, K. Goddard, B. Wilfond, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Kathleen F. Mittendorf, Charisma L. Jenkins, Marian J. Gilmore, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Erratum to: The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot (American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, (2016), 171, 7, (925-930), 10.1002/ajmg.b.32452)

M. Dorschner, T. Bird, I. Mata, 2017 .

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

A thermodynamic approach to PCR primer design

William Stafford Noble, Michael Dorschner, Richard Humbert, 2008, Nucleic acids research.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

I. Amit, A. Gnirke, E. Lander, 2009, Science.

Comprehensive mapping of long-range interactions reveals folding principles of the human genome.

I. Amit, A. Gnirke, E. Lander, 2009, Science.