Scholars@Duke
Misha Angrist

Misha Angrist

Associate Professor of the Practice in the Social Science Research Institute
Social Science Research Institute
Box 90989, Gross Hall Room 263, Durham, NC 27708-0989
Box 90989, Gross Hall Room 263, Durham, NC 27708-0989
Office hours Varies by semester or by appointment  

Selected Publications

Taking it back: A pilot study of a rubric measuring retraction notice quality.

Journal Article Accountability in research · June 2024 The frequency of scientific retractions has grown substantially in recent years. However, thus far there is no standardized retraction notice format to which journals and their publishers adhere voluntarily, let alone compulsorily. We developed a rubric sp ... Full text Cite

Good problems to have? Policy and societal implications of a disease-modifying therapy for presymptomatic late-onset Alzheimer's disease.

Journal Article Life Sci Soc Policy · October 12, 2020 In the United States alone, the prevalence of AD is expected to more than double from six million people in 2019 to nearly 14 million people in 2050. Meanwhile, the track record for developing treatments for AD has been marked by decades of failure. But re ... Full text Link to item Cite

Reactions to the National Academies/Royal Society Report on Heritable Human Genome Editing.

Journal Article The CRISPR journal · October 2020 In September 2020, a detailed report on Heritable Human Genome Editing was published. The report offers a translational pathway for the limited approval of germline editing under limited circumstances and assuming various criteria have been met. In ... Full text Cite

A Genocentric Approach to Discovery of Mendelian Disorders.

Journal Article Am J Hum Genet · November 7, 2019 The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their cli ... Full text Open Access Link to item Cite

Open Humans: A platform for participant-centered research and personal data exploration.

Journal Article GigaScience · June 2019 BackgroundMany aspects of our lives are now digitized and connected to the internet. As a result, individuals are now creating and collecting more personal data than ever before. This offers an unprecedented chance for human-participant research r ... Full text Cite

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Journal Article Am J Hum Genet · January 3, 2019 The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we r ... Full text Open Access Link to item Cite

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.

Journal Article Journal of participatory medicine · January 2018 BackgroundUnlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families' rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the huma ... Full text Open Access Cite

Personal genomics: Where are we now?

Journal Article Applied & translational genomics · March 2016 Full text Cite

Start me up: ways to encourage sharing of genomic information with research participants.

Journal Article Nature reviews. Genetics · August 2015 Personalized and precision medicine initiatives explicitly call for researchers to treat research participants as partners. One way to realize that goal is by returning individual research results to participants. I propose a number of concrete steps that ... Full text Cite

Living laboratory: whole-genome sequencing as a learning healthcare enterprise.

Journal Article Clinical genetics · April 2015 With the proliferation of affordable large-scale human genomic data come profound and vexing questions about management of such data and their clinical uncertainty. These issues challenge the view that genomic research on human beings can (or should) be fu ... Full text Cite

The audacity of interpretation: Protecting patients or piling on?

Journal Article Applied & translational genomics · September 2014 Full text Cite

Personalized medicine and human genetic diversity.

Journal Article Cold Spring Harbor perspectives in medicine · July 2014 Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the ... Full text Open Access Cite

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

Journal Article Clin Genet · April 2014 Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns. We conducted whole exome sequencing of a Turkish male with a suspected X-linked skeletal dysplasia of unknown ... Full text Link to item Cite

Open window: when easily identifiable genomes and traits are in the public domain.

Journal Article PloS one · January 2014 "One can't be of an enquiring and experimental nature, and still be very sensible."--Charles Fort. As the costs of personal genetic testing "self-quantification" fall, publicly accessible databases housing people's genotypic and phenotypic information are ... Full text Cite

Genetic privacy needs a more nuanced approach.

Journal Article Nature · February 2013 Full text Cite

A public resource facilitating clinical use of genomes.

Journal Article Proceedings of the National Academy of Sciences of the United States of America · July 2012 Rapid advances in DNA sequencing promise to enable new diagnostics and individualized therapies. Achieving personalized medicine, however, will require extensive research on highly reidentifiable, integrated datasets of genomic and health information. To a ... Full text Cite

You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative.

Journal Article Personalized medicine · November 2011 The rapid emergence of whole-genome and whole-exome sequencing of research participants has helped to revive the debate about whether genetic and other 'omic' data should be returned to research participants, and if so, which data, under what circumstances ... Full text Cite

Letter to editor

Journal Article Nature Biotechnology · December 1, 2010 Full text Cite

Urge overkill: protecting deidentified human subjects at what price?

Journal Article The American journal of bioethics : AJOB · September 2010 Full text Cite

DNA patents and diagnostics: not a pretty picture.

Journal Article Nature biotechnology · August 2010 Full text Cite

Orchid agonistes

Journal Article Nature · May 27, 2010 Full text Cite

Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome.

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · April 2010 Genetic testing for long QT syndrome exemplifies patenting and exclusive licensing with different outcomes at different times. Exclusive licensing from the University of Utah changed the business model from sole provider to two US providers of long QT synd ... Full text Cite

Only connect: personal genomics and the future of American medicine.

Journal Article Molecular diagnosis & therapy · April 2010 Access to one's own complete genome was unheard of just a few years ago. At present we have a smattering of identifiable complete human genomes, but the coming months and years will undoubtedly bring thousands more. What will this mean for the practice of ... Full text Cite

Personal genomes in progress: From the human genome project to the Personal Genome Project

Journal Article Dialogues in Clinical Neuroscience · 2010 The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007-even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucle ... Cite

Personal genomes in progress: from the human genome project to the personal genome project.

Journal Article Dialogues in clinical neuroscience · January 2010 The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007--even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucl ... Cite

Personal genomes in progress: From the human genome project to the Personal Genome Project

Journal Article Dialogues in Clinical Neuroscience · January 1, 2010 The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007-even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucle ... Cite

Eyes wide open: the personal genome project, citizen science and veracity in informed consent.

Journal Article Personalized medicine · November 2009 I am a close observer of the Personal Genome Project (PGP) and one of the original ten participants. The PGP was originally conceived as a way to test novel DNA sequencing technologies on human samples and to begin to build a database of human genomes and ... Full text Cite

The dangers of diagnostic monopolies.

Journal Article Nature · March 2009 Full text Cite

Personal genomics: Access denied? : Consumers have a right to their genomes

Journal Article Technology Review · September 1, 2008 Misha Angrist states that companies and consumers need to follow the directions of regulatory authorities before accessing their genomes and personal-genomics service. Regulatory authorities need to understand that such services can provide significant ben ... Cite

Paper boy

Journal Article Literary Review · December 1, 2006 Cite

The future may be closer than you think: a response from the Personalized Medicine Coalition to the Royal Society's report on personalized medicine.

Journal Article Per Med · May 2006 A recent report from the British Royal Society on the prospects for personalized medicine provides a sobering assessment of the field and its prospects. The report contends that pharmacogenetics has little clinical relevance at the moment and will only pro ... Full text Link to item Cite

Who owns the genome?

Journal Article New Atlantis (Washington, D.C.) · January 2006 Cite

Genomic medicine: genetic variation and its impact on the future of health care.

Journal Article Philos Trans R Soc Lond B Biol Sci · August 29, 2005 Advances in genome technology and other fruits of the Human Genome Project are playing a growing role in the delivery of health care. With the development of new technologies and opportunities for large-scale analysis of the genome, transcriptome, proteome ... Full text Link to item Cite

Breast cancer: integrating the patient with her genome.

Journal Article Trends in biotechnology · January 2005 Increasingly, gene expression data are becoming the currency of the realm in assessing disease prognosis. This has been especially evident in cancer, particularly those malignancies for which tumor samples are fairly accessible and understanding prognostic ... Full text Cite

Swedish bricks and minerals

Journal Article Michigan Quarterly Review · December 1, 2003 Cite

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Journal Article Nature genetics · May 2002 Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR bu ... Full text Cite

Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene.

Journal Article Gene · February 2002 Thymic stromal derived lymphopoietin receptor (TSLPR) is a novel receptor subunit that is related in sequence to the interleukin (IL)-2 receptor common gamma chain. TSLPR forms a heterodimeric complex with the IL-7 receptor alpha chain to form the receptor ... Full text Cite

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Journal Article Proceedings of the National Academy of Sciences of the United States of America · January 2000 Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximately 50% of familial cases being heterozygous ... Full text Cite

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

Journal Article Genome research · March 1999 Hirschsprung disease (HSCR) is a multigenic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract. Patients presenting with aganglionosis in association with hypopigmentation are classified as Waardenburg syndrome typ ... Cite

Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease.

Journal Article Oncogene · December 1998 Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Mice that carry null alleles for RET or for ... Full text Cite

Less is more: compact genomes pay dividends.

Journal Article Genome research · July 1998 Full text Cite

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.

Journal Article Genomics · March 1998 Congenital aganglionic megacolon, commonly known as Hirschsprung disease (HSCR), is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Knockout mice for RET and for ... Full text Cite

Multigenic inheritance of Hirschsprung disease.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1997 Link to item Cite

Does phaster mean better?

Journal Article Clinical chemistry · March 1997 Cite

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

Journal Article Nature genetics · November 1996 Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. HSCR may be inherited as a single gene disorder with reduced penetrance or as a multigeni ... Full text Cite

Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.

Journal Article American journal of medical genetics · June 1996 Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inh ... Full text Cite

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Journal Article Nature genetics · April 1996 Hirschsprung disease (HSCR) or colonic aganglionosis is a congenital disorder characterized by an absence of intramural ganglia along variable lengths of the colon resulting in intestinal obstruction. The incidence of HSCR is 1 in 5,000 live births. Mutati ... Full text Cite

Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA.

Journal Article Genomics · December 1995 Molecules containing Src-homology 2 (SH2) and Src-homology 3 (SH3) domains are critical components of signal transduction pathways that serve to relay signals originating from the cell surface to the interior of the cell. Src-like adapter protein (SLAP) is ... Full text Cite

MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1995 Link to item Cite

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Journal Article Human molecular genetics · May 1995 Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. Recently, linkage of an incompletely penetrant, dominant form of HSCR was reported, follo ... Full text Cite

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Journal Article Hum Mol Genet · October 1994 'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset ... Full text Link to item Cite

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Journal Article Human molecular genetics · August 1994 Hirschsprung disease (HSCR) is a congenital disorder of unknown etiology characterized by the absence of enteric ganglia in the distal colon. We have ascertained a large, inbred, Mennonite kindred which demonstrates a high incidence of Hirschsprung disease ... Full text Cite

A GENETIC-LOCUS FOR HIRSCHSPRUNG DISEASE IN THE PERICENTROMERIC REGION OF CHROMOSOME-10

Conference AMERICAN JOURNAL OF HUMAN GENETICS · September 1, 1993 Link to item Cite

IDENTITY-BY-DESCENT MAPPING OF HIRSCHSPRUNG DISEASE IN A LARGE MENNONITE KINDRED

Conference AMERICAN JOURNAL OF HUMAN GENETICS · September 1, 1993 Link to item Cite

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Journal Article Nature genetics · August 1993 Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the p ... Full text Cite

Autism resources at the higher education level in Indiana.

Journal Article Journal of autism and developmental disorders · March 1989 Full text Cite

Toilet training a sixteen year old with autism in a natural setting

Journal Article British Journal of Mental Subnormality · January 1, 1988 Full text Cite