Human Genetics, Department of

Titles
Authors
Subjects
Date

The research of current faculty in the Department of Human Genetics covers a broad range of areas, including population and statistical genetics, genomic instability, the genetic epidemiology of common diseases, genomics, the isolation and characterization of disease-causing mutations in humans and mice, gene therapy, regulation of gene expression, mammalian developmental genetics, and cancer genetics.

Recent Deposits

Amplify Sprouted: A Community-Based Educational Tool for Gender-Affirming Care Evolved for the Prenatal/Preconception Genetic Counseling Specialty

Ernst, Gabrielle; Yashar, Beverly M; Koeller, Diane; Mohnach, Lauren; Blum (Huser), Nicole (2022-04-11)

(2.3MB)
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease

Bond, Elysa; MS; GC; Yashar, Beverly; MS; PhD; Osborne, Jenae; MS; Else, Tobias; MD; Marvin, Monica; MS (Springer Nature, 2022-01-01)

(615.1KB)
Recurrent 1q21.1 deletion syndrome: Report on variable expression, nonpenetrance and review of literature

Upadhyai, P; Amiri, EF; Guleria, VS; Bielas, SL; Girisha, KM; Shukla, A (Wolters Kluwer, 2020-07-01)

(374.5KB)
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage.

Boda, E; Lorenzati, M; Parolisi, R; Harding, B; Pallavicini, G; Bonfanti, L; Moccia, A; Bielas, S; Di Cunto, F; Buffo, A (Springer Nature, 2022-01-28)

(10.3MB)
Genetic construct schematic to generate a conditional allele to knock out the Aldh1a2 gene in mice

Cheung, Leonard Yan Ming; Camper, Sally; Napoli, Joseph (2019-10-02)

(8.5MB)
Familial Medullary Thyroid Carcinoma Associated with Cutaneous Lichen Amyloidosis

Rothberg, Amy E.; Raymond, Victoria M.; Gruber, Stephen B.; Sisson, James C. (Mary Ann Liebert, Inc., 2009-06)

(293KB)
Organization of the Mouse and Human Carbonic Anhydrase II Genes a

Venta, Patrick J.; Montgomery, Jeffry C.; Wiebauer, Karin; Hewett-Emmett, David; Tashian, Richard E. (Blackwell Publishing Ltd, 1984-06)

(890.2KB)
HORMONAL REGULATION OF MEMBRANE PHENOTYPE IN HEPATOMA CELLS *

Gelehrter, Thomas D. (Blackwell Publishing Ltd, 1980-09)

(661.3KB)
Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication

Lehoczky, Jessica A.; Williams, Melissa E.; Innis, Jeffrey W. (Blackwell Science Inc, 2004-11)

(1.9MB)
T cells in aging mice: genetic, developmental, and biochemical analyses

Miller, Richard A.; Berger, Scott B.; Burke, David T.; Galecki, Andrzej T.; Garcia, Gonzalo G.; Harper, James M.; Sadighi Akha, Amir A. (Munksgaard International PublishersBlackwell Publishing Ltd, 2005-06)

(366KB)
Big mice die young: early life body weight predicts longevity in genetically heterogeneous mice

Miller, Richard A.; Harper, James M.; Galecki, Andrzej T.; Burke, David T. (Blackwell Science Ltd, 2002-10)

(298.8KB)
STATISTICAL TESTS FOR TAXONOMIC DISTINCTIVENESS FROM OBSERVATIONS OF MONOPHYLY

Rosenberg, Noah A. (Blackwell Publishing Inc, 2007-02)

(148.7KB)
Bone marrow cell trafficking following intravenous administration

Cui, Jisong; Wahl, Richard L.; Shen, Tingliang; Fisher, Susan J.; Recker, Elizabeth; Ginsburg, David W.; Long, Michael W. (Blackwell Science Ltd, 1999-12)

(309KB)
Risk Estimation and Value-of-Information Analysis for Three Proposed Genetic Screening Programs for Chronic Beryllium Disease Prevention

Bartell, Scott M.; Ponce, Rafael A.; Takaro, Timothy K.; Zerbe, Richard O.; Omenn, Gilbert S.; Faustman, Elaine M. (Blackwell Publishers Inc., 2000-02)

(143KB)
BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud

Lehoczky, Jessica A.; Innis, Jeffrey W. (Blackwell Publishing Inc, 2008-07)

(3.3MB)
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

Keegan, Catherine E.; Hutz, Janna E.; Krause, Andrea S.; Koehler, Katrin; Metherell, Louise A.; Boikos, Sosipatros; Stergiopoulos, Sotirios; Clark, Adrian J. L.; Stratakis, Constantine A.; Huebner, Angela; Hammer, Gary D. (Blackwell Publishing Ltd, 2007-08)

(117.2KB)
Reversibility of Serum Removal Effects on IGF-II mRNA in Human Neuroblastoma Cells

Martin, Donna M.; Feldman, Eva L. (Blackwell Publishing Ltd, 1993-08)

(327.1KB)
Expanded HOXA13 polyalanine tracts in a monotreme

Lehoczky, Jessica A.; Innis, Jeffrey W. (Blackwell Publishing Inc, 2008-07)

(238.5KB)
MUTATION SYSTEMS IN CULTURED MAMMALIAN CELLS *

Chu, Ernest H. Y. (Blackwell Publishing Ltd, 1983-06)

(623.8KB)
The Value of Inherited Deficiencies of Human Carbonic Anhydrase Isozymes in Understanding Their Cellular Roles a

Tashian, Richard E.; Hewett-Emmett, David; Dodgson, Susanna J.; Forster, Robert E.; Sly, William S. (Blackwell Publishing Ltd, 1984-06)

(889.8KB)