Today is Wednesday, Dec. 2, 2020

Department of

Neuroscience Graduate Program

Photo of  Rolf Stottmann, PhD

Rolf Stottmann, PhD

Education/Credentials
  • Ph.D.: Duke University School of Medicine
  • M.S.: University of Maryland, College Park
  • B.S.: University of Maryland, College Park
Contact Information
  • CCHMC R.1033
  • MLC 7016
  • 3333 Burnet Ave
  • Cincinnati, Ohio 45229
  • Office 513-636-7136
  • Fax 513-636-4373
  • Email rolf.stottmann@cchmc.org

Peer Reviewed Publications

Abdelhamed, Zakia; Lukacs, Marshall; Cindric, Sandra; Omran, Heymut; Stottmann, Rolf W 2020. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Disease models & mechanisms, 13 10,

DiStasio, Andrew; Paulding, David; Chaturvedi, Praneet; Stottmann, Rolf W 2020. Nubp2 is required for cranial neural crest survival in the mouse. Developmental biology, 458 2, 189-199

Lukacs, Marshall; Blizzard, Lauren E; Stottmann, Rolf W 2020. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Human molecular genetics, 29 7, 1205-1217

Bittermann, Elizabeth; Abdelhamed, Zakia; Liegel, Ryan P; Menke, Chelsea; Timms, Andrew; Beier, David R; Stottmann, Rolf W 2019. Differential requirements of tubulin genes in mammalian forebrain development. PLoS genetics, 15 8, e1008243

Liegel, Ryan P; Finnerty, Erin; Blizzard, Lauren; DiStasio, Andrew; Hufnagel, Robert B; Saal, Howard M; Sund, Kristen L; Prows, Cynthia A; Stottmann, Rolf W 2019. Using human sequencing to guide craniofacial research. Genesis (New York, N.Y. : 2000), 57 1, e23259

Lukacs, Marshall; Gilley, Jonathan; Zhu, Yi; Orsomando, Giuseppe; Angeletti, Carlo; Liu, Jiaqi; Yang, Xiuna; Park, Joun; Hopkin, Robert J; Coleman, Michael P; Zhai, R Grace; Stottmann, Rolf W 2019. Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. Experimental neurology, 320 , 112961

Lukacs, Marshall; Roberts, Tia; Chatuverdi, Praneet; Stottmann, Rolf W 2019. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. eLife, 8 ,

Magini, Pamela; Smits, Daphne J; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H; Dremmen, Marjolein; de Wit, Marie Claire Y; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J; Seri, Marco; Jansen, Anna C; Stottmann, Rolf W; Hufnagel, Robert B; Hopkin, Robert J; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Zaki, Maha S; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Bertoli-Avella, Aida; Mirzaa, Ghayda M; Dobyns, William B; Pippucci, Tommaso; Fornerod, Maarten; Mancini, Grazia M S 2019. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American journal of human genetics, 105 4, 689-705

Snedeker, John; Gibbons, William J; Paulding, David F; Abdelhamed, Zakia; Prows, Daniel R; Stottmann, Rolf W 2019. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS genetics, 15 11, e1008467

Abdelhamed, Zakia; Vuong, Shawn M; Hill, Lauren; Shula, Crystal; Timms, Andrew; Beier, David; Campbell, Kenneth; Mangano, Francesco T; Stottmann, Rolf W; Goto, June 2018. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development (Cambridge, England), 145 1,

DiStasio, Andrew; Driver, Ashley; Sund, Kristen; Donlin, Milene; Muraleedharan, Ranjith M; Pooya, Shabnam; Kline-Fath, Beth; Kaufman, Kenneth M; Prows, Cynthia A; Schorry, Elizabeth; Dasgupta, Biplab; Stottmann, Rolf W 2017. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Human molecular genetics, 26 24, 4836-4848

Driver, Ashley M; Shumrick, Christopher; Stottmann, Rolf W 2017. Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration. Journal of developmental biology, 5 4,

Li, Zhuo; Peng, Yanyan; Hufnagel, Robert B; Hu, Yueh-Chiang; Zhao, Chuntao; Queme, Luis F; Khuchua, Zaza; Driver, Ashley M; Dong, Fei; Lu, Q Richard; Lindquist, Diana M; Jankowski, Michael P; Stottmann, Rolf W; Kao, Winston W Y; Huang, Taosheng 2017. Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Human molecular genetics, 26 19, 3776-3791

Schock, Elizabeth N; Struve, Jaime N; Chang, Ching-Fang; Williams, Trevor J; Snedeker, John; Attia, Aria C; Stottmann, Rolf W; Brugmann, Samantha A 2017. A tissue-specific role for intraflagellar transport genes during craniofacial development. PloS one, 12 3, e0174206

Snedeker, John; Schock, Elizabeth N; Struve, Jamie N; Chang, Ching-Fang; Cionni, Megan; Tran, Pamela V; Brugmann, Samantha A; Stottmann, Rolf W 2017. Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development. PloS one, 12 3, e0173258

Stottmann, Rolf W; Driver, Ashley; Gutierrez, Arnold; Skelton, Matthew R; Muntifering, Michael; Stepien, Christopher; Knudson, Luke; Kofron, Matthew; Vorhees, Charles V; Williams, Michael T 2017. A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization. Genes, brain, and behavior, 16 2, 250-259

Cionni, Megan; Menke, Chelsea; Stottmann, Rolf W 2016. Novel genetic tools facilitate the study of cortical neuron migration. Mammalian genome : official journal of the International Mammalian Genome Society, 27 1-2, 8-16

Driver, Ashley M; Kratz, Lisa E; Kelley, Richard I; Stottmann, Rolf W 2016. Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain. Neurobiology of disease, 91 , 69-82

Gelineau-Morel, Rose; Lukacs, Marshall; Weaver, K Nicole; Hufnagel, Robert B; Gilbert, Donald L; Stottmann, Rolf W 2016. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes, 7 10,

Go, D E; Stottmann, R W 2016. The Impact of CRISPR/Cas9-Based Genomic Engineering on Biomedical Research and Medicine. Current molecular medicine, 16 4, 343-52

Chang, Ching-Fang; Schock, Elizabeth N; Attia, Aria C; Stottmann, Rolf W; Brugmann, Samantha A 2015. The ciliary baton: orchestrating neural crest cell development. Current topics in developmental biology, 111 , 97-134

Jeruschke, Stefanie; Jeruschke, Kay; DiStasio, Andrew; Karaterzi, Sinem; Büscher, Anja K; Nalbant, Perihan; Klein-Hitpass, Ludger; Hoyer, Peter F; Weiss, Jürgen; Stottmann, Rolf W; Weber, Stefanie 2015. Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression. PloS one, 10 9, e0137043

Menke, Chelsea; Cionni, Megan; Siggers, Trevor; Bulyk, Martha L; Beier, David R; Stottmann, Rolf W 2015. Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development. Genesis (New York, N.Y. : 2000), 53 9, 573-582

Saal, Howard M; Prows, Cynthia A; Guerreiro, Iris; Donlin, Milene; Knudson, Luke; Sund, Kristen L; Chang, Ching-Fang; Brugmann, Samantha A; Stottmann, Rolf W 2015. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Human molecular genetics, 24 12, 3399-409

Cionni, Megan; Menke, Chelsea; Stottmann, Rolf W 2014. The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1. PloS one, 9 12, e116104

Stottmann, Rolf; Beier, David 2014. ENU Mutagenesis in the Mouse. Current protocols in human genetics, 82 , 15.4.1-10

Stottmann, Rolf; Beier, David 2014. ENU mutagenesis in the mouse. Current protocols in mouse biology, 4 2, 25-35

Ha, Seungshin; Stottmann, Rolf W; Furley, Andrew J; Beier, David R 2013. A Forward Genetic Screen in Mice Identifies Mutants with Abnormal Cortical Patterning. Cerebral cortex (New York, N.Y. : 1991), ,

Stottmann, R W; Donlin, M; Hafner, A; Bernard, A; Sinclair, D A; Beier, D R 2013. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. Human molecular genetics, 22 20, 4053-63

Leshchiner, Ignaty; Alexa, Kristen; Kelsey, Peter; Adzhubei, Ivan; Austin-Tse, Christina A; Cooney, Jeffrey D; Anderson, Heidi; King, Matthew J; Stottmann, Rolf W; Garnaas, Maija K; Ha, Seungshin; Drummond, Iain A; Paw, Barry H; North, Trista E; Beier, David R; Goessling, Wolfram; Sunyaev, Shamil R 2012. Mutation mapping and identification by whole-genome sequencing. Genome research, 22 8, 1541-8

Stottmann, R W; Moran, J L; Turbe-Doan, A; Driver, E; Kelley, M; Beier, D R 2011. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics, 188 3, 615-24

Stottmann, Rolf W; Klingensmith, John 2011. Bone morphogenetic protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons. Developmental dynamics : an official publication of the American Association of Anatomists, 240 4, 755-65

Stottmann, Rolf W; Turbe-Doan, Annick; Tran, Pamela; Kratz, Lisa E; Moran, Jennifer L; Kelley, Richard I; Beier, David R 2011. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS genetics, 7 9, e1002224

Jaeger, Savina A; Chan, Esther T; Berger, Michael F; Stottmann, Rolf; Hughes, Timothy R; Bulyk, Martha L 2010. Conservation and regulatory associations of a wide affinity range of mouse transcription factor binding sites. Genomics, 95 4, 185-95

Stottmann, R W; Bjork, B C; Doyle, J B; Beier, D R 2010. Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. Genesis (New York, N.Y. : 2000), 48 5, 303-8

Stottmann, Rolf W; Beier, David R 2010. Using ENU mutagenesis for phenotype-driven analysis of the mouse. Methods in enzymology, 477 , 329-48

Stottmann, R W; Tran, P V; Turbe-Doan, A; Beier, D R 2009. Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain. Developmental biology, 335 1, 166-78

Tran, Pamela V; Haycraft, Courtney J; Besschetnova, Tatiana Y; Turbe-Doan, Annick; Stottmann, Rolf W; Herron, Bruce J; Chesebro, Allyson L; Qiu, Haiyan; Scherz, Paul J; Shah, Jagesh V; Yoder, Bradley K; Beier, David R 2008. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nature genetics, 40 4, 403-10

Choi, Murim; Stottmann, Rolf W; Yang, Yu-Ping; Meyers, Erik N; Klingensmith, John 2007. The bone morphogenetic protein antagonist noggin regulates mammalian cardiac morphogenesis. Circulation research, 100 2, 220-8

Anderson, Ryan M; Stottmann, Rolf W; Choi, Murim; Klingensmith, John 2006. Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival. Developmental dynamics : an official publication of the American Association of Anatomists, 235 9, 2507-20

Stottmann, Rolf W; Berrong, Mark; Matta, Karen; Choi, Murim; Klingensmith, John 2006. The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Developmental biology, 295 2, 647-63

Stottmann, Rolf W; Choi, Murim; Mishina, Yuji; Meyers, Erik N; Klingensmith, John 2004. BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium. Development (Cambridge, England), 131 9, 2205-18

Anderson, Ryan M; Lawrence, Alison R; Stottmann, Rolf W; Bachiller, Daniel; Klingensmith, John 2002. Chordin and noggin promote organizing centers of forebrain development in the mouse. Development (Cambridge, England), 129 21, 4975-87

Stottmann, R W; Anderson, R M; Klingensmith, J 2001. The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth. Developmental biology, 240 2, 457-73

Stottmann, R W; Rivas, R J 1998. Distribution of TAG-1 and synaptophysin in the developing cerebellar cortex: relationship to Purkinje cell dendritic development. The Journal of comparative neurology, 395 1, 121-35

Bauer, Kim A; George, Timothy M; Enterline, David S; Stottmann, Rolf W; Melvin, Elizabeth C; Siegel, Deborah; Samal, Surekha; Hauser, Michael A; Klingensmith, John; Nye, Jeffery S; Speer, Marcy C . A novel mutation in the gene encoding noggin is not causative in human neural tube defects. Journal of neurogenetics, 16 1, 65-71

Beckstead, Wesley A; Bjork, Bryan C; Stottmann, Rolf W; Sunyaev, Shamil; Beier, David R . SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs. Mammalian genome : official journal of the International Mammalian Genome Society, 19 10-12, 687-90

Tran, Pamela V; Lachke, Salil A; Stottmann, Rolf W . Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile. Wiley interdisciplinary reviews. Systems biology and medicine, 5 1, 83-100