Skip to main content
Landing Pages / Faculty Profile
Photo of  Rolf W. Stottmann, PhD

Rolf W. Stottmann, PhD

Education/Credentials
  • Bachelor's Degree: University of Maryland, College Park
  • Master's Degree: University of Maryland, College Park
  • Doctoral Degree: Duke University School of Medicine
  • Fellowship: Brigham and Women's Hospital, Harvard Medical Schoo
Research Interests

Genetics, Developmental Biology, Mouse Models of Human Disease, Congenital Malformations, Neural Development, Craniofacial Development, Forward Genetics, Next Generation Sequencing, ENU Mutagenesis

Contact Information

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