Rolf W. Stottmann, Ph.D.
Affiliations: | 1998-2004 | Cell Biology | Duke Medical School, Durham, NC, United States |
| 2004-2001 | Pediatrics | Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States | |
| 2011-2021 | Div. Human Genetics, Dept. Pediatrics | Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States | |
| 2021- | Inst. Genomic Medicine, Dept. Pediatrics | Nationwide Children's Hospital, Columbus, Ohio, United States |
Area:
cortical and craniofacial development, geneticsWebsite:
https://rstottmann.wixsite.com/my-siteGoogle:
"Rolf Stottmann"Mean distance: 18.54 (cluster 32) | S | N | B | C | P |
Parents
Sign in to add mentor| John A. Klingensmith | grad student | 1998-2004 | Duke Medical School |
| David R. Beier | post-doc | 2004-2011 | Brigham & Women's Hospital |
Children
Sign in to add traineeCollaborators
Sign in to add collaborator| Seungshin Ha | collaborator | 2009- | Brigham and Women's Hospital |
BETA: Related publications
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Publications
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| Michaels JR, Husami A, Vontell AM, et al. (2024) Genetic Analysis and Functional Assessment of a Variant in Micrognathia and Cleft Palate. Biorxiv : the Preprint Server For Biology |
| Wilderman A, D'haene E, Baetens M, et al. (2024) A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Nature Communications. 15: 136 |
| Inskeep KA, Crase B, Stottmann RW. (2023) mediated sphingolipid metabolism regulates brain and primary cilia development. Biorxiv : the Preprint Server For Biology |
| Smallwood K, Watt KEN, Ide S, et al. (2023) POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. American Journal of Human Genetics |
| Liegel RP, Michalski MN, Vaidya S, et al. (2023) Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations. Development (Cambridge, England). 150 |
| Strong A, Rao S, von Hardenberg S, et al. (2023) A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American Journal of Medical Genetics. Part A |
| Khalaf-Nazzal R, Fasham J, Inskeep KA, et al. (2022) Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. American Journal of Human Genetics |
| Inskeep KA, Zarate YA, Monteil D, et al. (2021) Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. American Journal of Medical Genetics. Part A |
| Marom R, Burrage LC, Venditti R, et al. (2021) COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. American Journal of Human Genetics |
| Blizzard LE, Menke C, Patel SD, et al. (2021) A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. Journal of Developmental Biology. 9 |