Human Genetics, Department of

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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

Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis

Hindy, G; Tyrrell, DJ; Vasbinder, A; Wei, C; Presswalla, F; Wang, H; Blakely, P; Ozel, AB; Graham, S; Holton, GH; Dowsett, J; Fahed, AC; Michael Amadi, K; Erne, GK; Tekmulla, A; Ismail, A; Launius, C; Sotoodehnia, N; Pankow, JS; Thørner, LW; Erikstrup, C; Pedersen, OB; Banasik, K; Brunak, S; Ullum, H; Eugen-Olsen, J; Ostrowski, SR; Haas, ME; Nielsen, JB; Lotta, LA; Engström, G; Melander, O; Orho-Melander, M; Zhao, L; Murthy, VL; Pinsky, DJ; Willer, CJ; Heckbert, SR; Reiser, J; Goldstein, DR; Desch, KC; Hayek, SS (American Society for Clinical Investigation, 2022-12-15)

(1.5MB)
FDA-approved drug repurposing in zebrafish identifies thyroid hormone and other compounds as potential antithrombotics

Yaman, Murat; Su, Hongyu; Lee, Jacqueline K.; Ferguson, Allison C.; Sowell, Katherine M.; Xun, Jenny; Wu, David; Habiger, Clayton J.; Hanauer, David A.; Clasby, Martin C.; Rech, Jason; Shavit, Jordan A. (2024)

(5.8MB)
RAI1 Regulates Activity-Dependent Nascent Transcription and Synaptic Scaling

Iwase, Shigeki (2019-09-01)

(5.5MB)
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)