Publications

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Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O’Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nature Genetics. 2017 May;49(5):806-810.


Ha S, Tripathi PP, Mihalas AB, Hevner RF, Beier DR. C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus. J Neurosci. 2017 Jan 25;37(4):960-971.


Gallego-Llamas J, Timms AE, Geister KA, Lindsay A, and Beier DR. Variant mapping and mutation discovery in inbred mice using next-generation sequencing. BMC Genomics. 2015 Nov 9;16(1):913.


Ha S, Stottmann RW, Furley AJ, Beier DR. A Forward Genetic Screen in Mice Identifies Mutants with Abnormal Cortical Patterning. Cereb Cortex. 2015 Jan;25(1):167-79.


Tran PV, Talbott GC, Turbe-Doan A, Jacobs DT, Schonfeld MP, Silva LM, Chatterjee A, Prysak M, Allard BA, Beier DR. Downregulating Hedgehog signaling reduces renal cystogenic potential of mouse models. J. Am Soc Nephrol., 2014 Oct;25(10):2201-12.


Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR.  Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. J Am Soc Nephrol. 2013 Jan;24(1):100-12.


Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Mutation mapping and identification by whole-genome sequencing. Genome Res. 2012 Aug;22(8):1541-8.


Stottmann RW, Turbe-Doan AT, Tran P, Kratz LE, Moran JL,, Kelley RI, Beier DR. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genetics, 2011, 7:e1002224.


Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR. Focusing forward genetics: A tri-partite ENU screen for neurodevelopmental mutations in the mouse. Genetics 2011,188:615-24.


Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O’Leary DD, Walsh CA, Beier DR. A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct Emx2 mutant phenotype. Neural Development, 2011 6:3.


Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the Golgin GMAP-210. N Engl J Med 2010, 362:206-16.


Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL,  Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR.  THM1 negatively modulates mouse Sonic Hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nature Genetics 2008, 40: 403-10.


Moran JL,  Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Research 2006, 16:436-40.


Ackerman, K, Herron BJ, Vargas S, Huang H, Kochilas L, Rao C, Pober P, Babiuk R, Epstein J,  Greer J, Beier DR. Fog2 is required for Normal Diaphragm and Lung Development in Mice and Man. PLoS Genetics 2005, 1:58-65.


Liu S, Lu W, Obara T, Kuida K, Lehoczky J, Dewar K, Drummond IA, Beier DR. A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development 2002, 129:5839-5846.


Herron BJ, Lu W, Rao C, Liu S, Peters H, Bronson RT,  Justice MJ, McDonald JD, Beier DR. Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nature Genetics 2002, 30:185-9.


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