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Items: 40


Using human sequencing to guide craniofacial research.

Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW.

Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21.


Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration.

Driver AM, Shumrick C, Stottmann RW.

J Dev Biol. 2017 Dec 19;5(4). pii: E18. doi: 10.3390/jdb5040018.


A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

Abdelhamed Z, Vuong SM, Hill L, Shula C, Timms A, Beier D, Campbell K, Mangano FT, Stottmann RW, Goto J.

Development. 2018 Jan 9;145(1). pii: dev154500. doi: 10.1242/dev.154500.


Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW.

Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. doi: 10.1093/hmg/ddx362.


Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T.

Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262.


A tissue-specific role for intraflagellar transport genes during craniofacial development.

Schock EN, Struve JN, Chang CF, Williams TJ, Snedeker J, Attia AC, Stottmann RW, Brugmann SA.

PLoS One. 2017 Mar 27;12(3):e0174206. doi: 10.1371/journal.pone.0174206. eCollection 2017.


Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development.

Snedeker J, Schock EN, Struve JN, Chang CF, Cionni M, Tran PV, Brugmann SA, Stottmann RW.

PLoS One. 2017 Mar 14;12(3):e0173258. doi: 10.1371/journal.pone.0173258. eCollection 2017.


Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.

Gelineau-Morel R, Lukacs M, Weaver KN, Hufnagel RB, Gilbert DL, Stottmann RW.

Genes (Basel). 2016 Oct 14;7(10). pii: E85.


A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.

Stottmann RW, Driver A, Gutierrez A, Skelton MR, Muntifering M, Stepien C, Knudson L, Kofron M, Vorhees CV, Williams MT.

Genes Brain Behav. 2017 Feb;16(2):250-259. doi: 10.1111/gbb.12327. Epub 2016 Oct 3.


The Impact of CRISPR/Cas9-Based Genomic Engineering on Biomedical Research and Medicine.

Go DE, Stottmann RW.

Curr Mol Med. 2016;16(4):343-52. Review.


Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.

Driver AM, Kratz LE, Kelley RI, Stottmann RW.

Neurobiol Dis. 2016 Jul;91:69-82. doi: 10.1016/j.nbd.2016.02.017. Epub 2016 Feb 24.


Novel genetic tools facilitate the study of cortical neuron migration.

Cionni M, Menke C, Stottmann RW.

Mamm Genome. 2016 Feb;27(1-2):8-16. doi: 10.1007/s00335-015-9615-6. Epub 2015 Dec 12.


Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.

Jeruschke S, Jeruschke K, DiStasio A, Karaterzi S, B├╝scher AK, Nalbant P, Klein-Hitpass L, Hoyer PF, Weiss J, Stottmann RW, Weber S.

PLoS One. 2015 Sep 2;10(9):e0137043. doi: 10.1371/journal.pone.0137043. eCollection 2015.


Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development.

Menke C, Cionni M, Siggers T, Bulyk ML, Beier DR, Stottmann RW.

Genesis. 2015 Sep;53(9):573-582. doi: 10.1002/dvg.22875. Epub 2015 Jul 22.


A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW.

Hum Mol Genet. 2015 Jun 15;24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10.


ENU mutagenesis in the mouse.

Stottmann R, Beier D.

Curr Protoc Mouse Biol. 2014 Jun 16;4(2):25-35. doi: 10.1002/9780470942390.mo140029.


The ciliary baton: orchestrating neural crest cell development.

Chang CF, Schock EN, Attia AC, Stottmann RW, Brugmann SA.

Curr Top Dev Biol. 2015;111:97-134. doi: 10.1016/bs.ctdb.2014.11.004. Epub 2015 Jan 22. Review.


The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1.

Cionni M, Menke C, Stottmann RW.

PLoS One. 2014 Dec 26;9(12):e116104. doi: 10.1371/journal.pone.0116104. eCollection 2014.


ENU Mutagenesis in the Mouse.

Stottmann R, Beier D.

Curr Protoc Hum Genet. 2014 Jul 14;82:15.4.1-10. doi: 10.1002/0471142905.hg1504s82.


A forward genetic screen in mice identifies mutants with abnormal cortical patterning.

Ha S, Stottmann RW, Furley AJ, Beier DR.

Cereb Cortex. 2015 Jan;25(1):167-79. doi: 10.1093/cercor/bht209. Epub 2013 Aug 22.


A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.

Hum Mol Genet. 2013 Oct 15;22(20):4053-63. doi: 10.1093/hmg/ddt255. Epub 2013 May 31.


Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.

Tran PV, Lachke SA, Stottmann RW.

Wiley Interdiscip Rev Syst Biol Med. 2013 Jan-Feb;5(1):83-100. doi: 10.1002/wsbm.1193. Epub 2012 Oct 11. Review.


Mutation mapping and identification by whole-genome sequencing.

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.

Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3.


Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR.

PLoS Genet. 2011 Sep;7(9):e1002224. doi: 10.1371/journal.pgen.1002224. Epub 2011 Sep 1.


Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse.

Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR.

Genetics. 2011 Jul;188(3):615-24. doi: 10.1534/genetics.111.126862. Epub 2011 Apr 21.


Using ENU mutagenesis for phenotype-driven analysis of the mouse.

Stottmann RW, Beier DR.

Methods Enzymol. 2010;477:329-48. doi: 10.1016/S0076-6879(10)77017-8.


Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse.

Stottmann RW, Bjork BC, Doyle JB, Beier DR.

Genesis. 2010 May;48(5):303-8. doi: 10.1002/dvg.20618.


Conservation and regulatory associations of a wide affinity range of mouse transcription factor binding sites.

Jaeger SA, Chan ET, Berger MF, Stottmann R, Hughes TR, Bulyk ML.

Genomics. 2010 Apr;95(4):185-95. doi: 10.1016/j.ygeno.2010.01.002. Epub 2010 Jan 15.


Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.

Stottmann RW, Tran PV, Turbe-Doan A, Beier DR.

Dev Biol. 2009 Nov 1;335(1):166-78. doi: 10.1016/j.ydbio.2009.08.023. Epub 2009 Sep 2.


SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs.

Beckstead WA, Bjork BC, Stottmann RW, Sunyaev S, Beier DR.

Mamm Genome. 2008 Oct-Dec;19(10-12):687-90. doi: 10.1007/s00335-008-9149-2. Epub 2008 Oct 29.


THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.

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.

Nat Genet. 2008 Apr;40(4):403-410. doi: 10.1038/ng.105. Epub 2008 Mar 9.


The bone morphogenetic protein antagonist noggin regulates mammalian cardiac morphogenesis.

Choi M, Stottmann RW, Yang YP, Meyers EN, Klingensmith J.

Circ Res. 2007 Feb 2;100(2):220-8. Epub 2007 Jan 11.


Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival.

Anderson RM, Stottmann RW, Choi M, Klingensmith J.

Dev Dyn. 2006 Sep;235(9):2507-20.


The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms.

Stottmann RW, Berrong M, Matta K, Choi M, Klingensmith J.

Dev Biol. 2006 Jul 15;295(2):647-63. Epub 2006 Apr 7.


BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium.

Stottmann RW, Choi M, Mishina Y, Meyers EN, Klingensmith J.

Development. 2004 May;131(9):2205-18. Epub 2004 Apr 8.


A novel mutation in the gene encoding noggin is not causative in human neural tube defects.

Bauer KA, George TM, Enterline DS, Stottmann RW, Melvin EC, Siegel D, Samal S, Hauser MA, Klingensmith J, Nye JS, Speer MC; Neural Tube Defects Collaborative Group.

J Neurogenet. 2002 Jan-Mar;16(1):65-71.


Chordin and noggin promote organizing centers of forebrain development in the mouse.

Anderson RM, Lawrence AR, Stottmann RW, Bachiller D, Klingensmith J.

Development. 2002 Nov;129(21):4975-87.


The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth.

Stottmann RW, Anderson RM, Klingensmith J.

Dev Biol. 2001 Dec 15;240(2):457-73.


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