Faculty Bibliography

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Annual review of genomics & human genetics. 2017:18:31-44.DOI: 10.1146/annurev-genom-080316-090927

A Conversation with Kurt and Rochelle Hirschhorn

Hirschhorn, Kurt; Hirschhorn, Rochelle; Hirschhorn, Joel N
In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challenges and directions for the study of human genetics. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 18 is August 31, 2017. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
PMID: 28142260
ISSN: 1545-293x
CID: 2425132
American journal of human genetics. 2014:94(3):336-7.DOI: 10.1016/j.ajhg.2013.12.006

2013 Victor A. McKusick Leadership Award Addresses

Hirschhorn, Kurt; Hirschhorn, Rochelle
PMCID:3951926
PMID: 24607384
ISSN: 0002-9297
CID: 836292

Foreword

Chapter by: Hirschhorn, Kurt; Hirschhorn, Rochelle
in: Primary Immunodeficiency Diseases: A Molecular and Genetic Approach by Hans D. Ochs,; et al [Eds]
Oxford : Oxford University Press, 2014
pp. ?-?
ISBN: 1306168503
CID: 997972

Immunodeficiency due to defects of purine metabolism

Chapter by: Hirschhorn, Rochelle; Grunebaum, Eyal; Roifman, Chaim; Candotti, Fabio
in: Primary Immunodeficiency Diseases: A Molecular and Genetic Approach by Hans D. Ochs, MD [Eds]
Oxford : Oxford University Press, 2014
pp. ?-?
ISBN: 1306168503
CID: 997982

ADA Deficiency - The First Described Genetic Defect Causing PID

Chapter by: Hershfield, Michael S; Meuwissen, Hilaire J; Hirschhorn, Rochelle
in: Primary immunodeficiency disorders : a historic and scientific perspective by Etzioni, Amos; Ochs, Hans D [Eds]
Oxford : Elsevier Academic Press, [2014]
pp. 255-266
ISBN: 0124071791
CID: 2256342

Biobanks and the human microbiome

Chapter by: Schwab, Abraham P; Brenner, Barbara; Goldfarb, Joseph; Hirschhorn, Rochelle; Philpott, Sean
in: The human microbiome : ethical, legal and social concerns by Rhodes, Rosamond; Gligorov, Nada; Schwab, Abraham P [Eds]
Oxford ; New York : Oxford University Press, 2013
pp. ?-?
ISBN: 9780199322152
CID: 988692
American journal of bioethics : AJOB. 2011:11(11):1-7.DOI: 10.1080/15265161.2011.615588

De minimis risk: a proposal for a new category of research risk

Rhodes, Rosamond; Azzouni, Jody; Baumrin, Stefan Bernard; Benkov, Keith; Blaser, Martin J; Brenner, Barbara; Dauben, Joseph W; Earle, William J; Frank, Lily; Gligorov, Nada; Goldfarb, Joseph; Hirschhorn, Kurt; Hirschhorn, Rochelle; Holzman, Ian; Indyk, Debbie; Jabs, Ethylin Wang; Lackey, Douglas P; Moros, Daniel A; Philpott, Sean; Rhodes, Matthew E; Richardson, Lynne D; Sacks, Henry S; Schwab, Abraham; Sperling, Rhoda; Trusko, Brett; Zweig, Arnulf
PMID: 22047112
ISSN: 1536-0075
CID: 142151

Immunodeficiency due to defects of purine metabolism

Chapter by: Hirschhorn, Rochelle; Candotti, Fabio
in: Primary immunodeficiency diseases : a molecular and genetic approach by Ochs, Hans D.; Smith, C. I. Edvard; Puck, Jennifer [Eds]
New York : Oxford University Press, 2007
pp. ?-?
ISBN: 9780195147742
CID: 997962
American journal of medical genetics. Part A. 2005:137A(1):114-114.DOI:

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (vol 85, pg 8, 1999) [Correction]

Huie, ML; Kasper, JS; Arn, PH; Greenberg, CR; Hirschhorn, R
ISI:000231009900025
ISSN: 1552-4825
CID: 98168
Journal of medical genetics. 2003:40(10):721-8.DOI: 10.1136/jmg.40.10.721

In vivo reversion to normal of inherited mutations in humans

Hirschhorn, R
There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed
PMCID:1735296
PMID: 14569115
ISSN: 1468-6244
CID: 39023