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Rolf W. Stottmann, Ph.D. - Publications

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, genetics
Website:
https://rstottmann.wixsite.com/my-site
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64 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, et al. A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Nature Communications. 15: 136. PMID 38167838 DOI: 10.1038/s41467-023-44506-2  0.342
2023 Inskeep KA, Crase B, Stottmann RW. mediated sphingolipid metabolism regulates brain and primary cilia development. Biorxiv : the Preprint Server For Biology. PMID 38168190 DOI: 10.1101/2023.12.15.571873  0.811
2023 Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, ... ... Stottmann RW, et al. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. American Journal of Human Genetics. PMID 37075751 DOI: 10.1016/j.ajhg.2023.03.014  0.826
2023 Liegel RP, Michalski MN, Vaidya S, Bittermann E, Finnerty E, Menke CA, Diegel CR, Zhong ZA, Williams BO, Stottmann RW. Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations. Development (Cambridge, England). 150. PMID 36789910 DOI: 10.1242/dev.201038  0.794
2023 Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, ... ... Stottmann RW, et al. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American Journal of Medical Genetics. Part A. PMID 36751037 DOI: 10.1002/ajmg.a.63130  0.322
2022 Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, ... ... Stottmann RW, et al. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. American Journal of Human Genetics. PMID 36283405 DOI: 10.1016/j.ajhg.2022.09.012  0.811
2021 Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. American Journal of Medical Genetics. Part A. PMID 34523780 DOI: 10.1002/ajmg.a.62497  0.824
2021 Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, ... ... Stottmann RW, et al. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. American Journal of Human Genetics. PMID 34450031 DOI: 10.1016/j.ajhg.2021.08.002  0.326
2021 Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. Journal of Developmental Biology. 9. PMID 34287339 DOI: 10.3390/jdb9030027  0.411
2021 Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Disease Models & Mechanisms. 14. PMID 34115122 DOI: 10.1242/dmm.048645  0.81
2021 Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice Disease Models & Mechanisms. 14: dmm048645. DOI: 10.1242/dmm.048645  0.818
2020 Abdelhamed Z, Lukacs M, Cindric S, Omran H, Stottmann RW. A novel hypomorphic allele of causes primary ciliary dyskinesia phenotypes in mice. Disease Models & Mechanisms. PMID 32988999 DOI: 10.1242/Dmm.045344  0.836
2020 Lukacs M, Blizzard LE, Stottmann RW. CNS Glycosylphosphatidylinositol Deficiency Results in Delayed White Matter Development, Ataxia, and Premature Death in a Novel Mouse Model. Human Molecular Genetics. PMID 32179897 DOI: 10.1093/Hmg/Ddaa046  0.831
2019 DiStasio A, Paulding D, Chaturvedi P, Stottmann RW. Nubp2 is required for cranial neural crest survival in the mouse. Developmental Biology. PMID 31733190 DOI: 10.1016/J.Ydbio.2019.10.039  0.797
2019 Snedeker J, Gibbons WJ, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. Plos Genetics. 15: e1008467. PMID 31730647 DOI: 10.1371/Journal.Pgen.1008467  0.813
2019 Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, ... ... Stottmann RW, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American Journal of Human Genetics. PMID 31495489 DOI: 10.1016/J.Ajhg.2019.08.006  0.42
2019 Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. Plos Genetics. 15: e1008243. PMID 31386652 DOI: 10.1371/Journal.Pgen.1008243  0.772
2019 Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 8. PMID 31232685 DOI: 10.7554/Elife.45248  0.841
2019 Lukacs M, Gilley J, Zhu Y, Orsomando G, Angeletti C, Liu J, Yang X, Park J, Hopkin RJ, Coleman MP, Zhai RG, Stottmann RW. Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. Experimental Neurology. 112961. PMID 31136762 DOI: 10.1016/J.Expneurol.2019.112961  0.804
2018 Liegel RP, Finnerty E, Ward L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann R. Using human sequencing to guide craniofacial research. Genesis (New York, N.Y. : 2000). PMID 30375152 DOI: 10.1002/Dvg.23259  0.785
2018 Abdelhamed Z, Vuong SM, Hill L, Shula C, Timms A, Beier D, Campbell K, Mangano FT, Stottmann RW, Goto J. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development (Cambridge, England). 145. PMID 29317443 DOI: 10.1242/Dev.154500  0.649
2017 Driver AM, Shumrick C, Stottmann RW. Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration. Journal of Developmental Biology. 5. PMID 29615573 DOI: 10.3390/jdb5040018  0.662
2017 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. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Human Molecular Genetics. PMID 29036432 DOI: 10.1093/Hmg/Ddx362  0.831
2017 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. Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Human Molecular Genetics. 26: 3776-3791. PMID 28934388 DOI: 10.1093/Hmg/Ddx262  0.684
2017 Schock EN, Struve JN, Chang CF, Williams TJ, Snedeker J, Attia AC, Stottmann RW, Brugmann SA. A tissue-specific role for intraflagellar transport genes during craniofacial development. Plos One. 12: e0174206. PMID 28346501 DOI: 10.1371/Journal.Pone.0174206  0.678
2017 Snedeker J, Schock EN, Struve JN, Chang CF, Cionni M, Tran PV, Brugmann SA, Stottmann RW. Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development. Plos One. 12: e0173258. PMID 28291836 DOI: 10.1371/Journal.Pone.0173258  0.714
2016 Gelineau-Morel R, Lukacs M, Weaver KN, Hufnagel RB, Gilbert DL, Stottmann RW. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes. 7. PMID 27754416 DOI: 10.3390/Genes7100085  0.81
2016 Stottmann RW, Driver A, Gutierrez A, Skelton MR, Muntifering M, Stepien C, Knudson L, Kofron M, Vorhees CV, Williams MT. A HETEROZYGOUS MUTATION IN TUBULIN, BETA 2B (TUBB2B) CAUSES COGNITIVE DEFICITS AND HIPPOCAMPAL DISORGANIZATION. Genes, Brain, and Behavior. PMID 27594048 DOI: 10.1111/Gbb.12327  0.726
2016 Driver AM, Kratz LE, Kelley RI, Stottmann RW. Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain. Neurobiology of Disease. PMID 26921468 DOI: 10.1016/J.Nbd.2016.02.017  0.699
2015 Cionni M, Menke C, Stottmann RW. Novel genetic tools facilitate the study of cortical neuron migration. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 26662625 DOI: 10.1007/S00335-015-9615-6  0.426
2015 Jeruschke S, Jeruschke K, DiStasio A, Karaterzi S, Büscher AK, Nalbant P, Klein-Hitpass L, Hoyer PF, Weiss J, Stottmann RW, Weber S. Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression. Plos One. 10: e0137043. PMID 26331477 DOI: 10.1371/Journal.Pone.0137043  0.794
2015 Menke C, Cionni M, Siggers T, Bulyk ML, Beier DR, Stottmann RW. Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development. Genesis (New York, N.Y. : 2000). PMID 26177923 DOI: 10.1002/Dvg.22875  0.695
2015 Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Human Molecular Genetics. 24: 3399-409. PMID 25759469 DOI: 10.1093/Hmg/Ddv088  0.469
2015 Chang CF, Schock EN, Attia AC, Stottmann RW, Brugmann SA. The ciliary baton: orchestrating neural crest cell development. Current Topics in Developmental Biology. 111: 97-134. PMID 25662259 DOI: 10.1016/Bs.Ctdb.2014.11.004  0.382
2015 Ha S, Stottmann RW, Furley AJ, Beier DR. A forward genetic screen in mice identifies mutants with abnormal cortical patterning. Cerebral Cortex (New York, N.Y. : 1991). 25: 167-79. PMID 23968836 DOI: 10.1093/Cercor/Bht209  0.76
2015 Menke C, Cionni M, Siggers T, Bulyk ML, Beier DR, Stottmann RW. Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development Genesis. DOI: 10.1002/dvg.22875  0.515
2014 Stottmann R, Beier D. ENU mutagenesis in the mouse Current Protocols in Mouse Biology. 4: 25-35. PMID 25723916 DOI: 10.1002/9780470942390.Mo140029  0.628
2014 Cionni M, Menke C, Stottmann RW. The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1. Plos One. 9: e116104. PMID 25541700 DOI: 10.1371/Journal.Pone.0116104  0.456
2014 Stottmann R, Beier D. ENU Mutagenesis in the Mouse. Current Protocols in Human Genetics. 82: 15.4.1-10. PMID 25042716 DOI: 10.1002/0471142905.hg1504s82  0.588
2013 Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. Human Molecular Genetics. 22: 4053-63. PMID 23727838 DOI: 10.1093/Hmg/Ddt255  0.701
2013 Tran PV, Lachke SA, Stottmann RW. Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile. Wiley Interdisciplinary Reviews. Systems Biology and Medicine. 5: 83-100. PMID 23060005 DOI: 10.1002/Wsbm.1193  0.327
2012 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, et al. Mutation mapping and identification by whole-genome sequencing. Genome Research. 22: 1541-8. PMID 22555591 DOI: 10.1101/Gr.135541.111  0.752
2011 Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. Plos Genetics. 7: e1002224. PMID 21912524 DOI: 10.1371/Journal.Pgen.1002224  0.627
2011 Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 188: 615-24. PMID 21515572 DOI: 10.1534/Genetics.111.126862  0.69
2011 Stottmann RW, Klingensmith J. 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: 755-65. PMID 21394823 DOI: 10.1002/Dvdy.22579  0.697
2011 Stottmann RW, Beier D. ENU mutagenesis identifies novel genes required for forebrain development Developmental Biology. 356: 159. DOI: 10.1016/J.Ydbio.2011.05.589  0.621
2010 Stottmann RW, Beier DR. Using ENU mutagenesis for phenotype-driven analysis of the mouse. Methods in Enzymology. 477: 329-48. PMID 20699149 DOI: 10.1016/S0076-6879(10)77017-8  0.672
2010 Stottmann RW, Bjork BC, Doyle JB, Beier DR. Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. Genesis (New York, N.Y. : 2000). 48: 303-8. PMID 20196077 DOI: 10.1002/Dvg.20618  0.703
2010 Jaeger SA, Chan ET, Berger MF, Stottmann R, Hughes TR, Bulyk ML. Conservation and regulatory associations of a wide affinity range of mouse transcription factor binding sites. Genomics. 95: 185-95. PMID 20079828 DOI: 10.1016/J.Ygeno.2010.01.002  0.332
2009 Stottmann RW, Tran PV, Turbe-Doan A, Beier DR. Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain. Developmental Biology. 335: 166-78. PMID 19732765 DOI: 10.1016/J.Ydbio.2009.08.023  0.665
2009 Stottmann RW, Turbe-Doan A, Qui H, Beier D. An ENU screen reveals novel genes in mammalian forebrain development Developmental Biology. 331: 495. DOI: 10.1016/J.Ydbio.2009.05.408  0.596
2008 Beckstead WA, Bjork BC, Stottmann RW, Sunyaev S, Beier DR. SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 687-90. PMID 18958524 DOI: 10.1007/S00335-008-9149-2  0.608
2008 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. 40: 403-10. PMID 18327258 DOI: 10.1038/Ng.105  0.653
2008 Stottmann RW, Yun Y, Beier D. An Enu screen reveals novel genes required for mammalian forebrain development Developmental Biology. 319: 599. DOI: 10.1016/J.Ydbio.2008.05.424  0.6
2007 Choi M, Stottmann RW, Yang YP, Meyers EN, Klingensmith J. The bone morphogenetic protein antagonist noggin regulates mammalian cardiac morphogenesis. Circulation Research. 100: 220-8. PMID 17218603 DOI: 10.1161/01.Res.0000257780.60484.6A  0.784
2007 Ackerman KG, Stottmann RW, Yun Y, Luo L, Bolton A, Moran JL, Beier R. Mouse mutagenesis for targeting mutations causing abnormal diaphragm development Developmental Biology. 306: 420-421. DOI: 10.1016/J.Ydbio.2007.03.654  0.432
2007 Bolton A, Moran JL, Ackerman KG, Luo L, Beier R, Stottmann RW, Yun Y. WITHDRAWN: Mouse mutagenesis for targeting mutations causing abnormal diaphragm development Developmental Biology. DOI: 10.1016/J.Ydbio.2007.03.308  0.432
2007 Stottmann RW, Yun Y, Beier D. An ENU screen for novel genes required in mammalian forebrain development Developmental Biology. 306: 302. DOI: 10.1016/J.Ydbio.2007.03.086  0.607
2006 Anderson RM, Stottmann RW, Choi M, Klingensmith J. Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 235: 2507-20. PMID 16894609 DOI: 10.1002/Dvdy.20891  0.745
2006 Stottmann RW, Berrong M, Matta K, Choi M, Klingensmith J. The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Developmental Biology. 295: 647-63. PMID 16712836 DOI: 10.1016/J.Ydbio.2006.03.051  0.748
2004 Stottmann RW, Choi M, Mishina Y, Meyers EN, Klingensmith J. BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium. Development (Cambridge, England). 131: 2205-18. PMID 15073157 DOI: 10.1242/Dev.01086  0.745
2002 Bauer KA, George TM, Enterline DS, Stottmann RW, Melvin EC, Siegel D, Samal S, Hauser MA, Klingensmith J, Nye JS, Speer MC. A novel mutation in the gene encoding noggin is not causative in human neural tube defects. Journal of Neurogenetics. 16: 65-71. PMID 12420790 DOI: 10.1080/Neg.16.1.65.71-1  0.758
2002 Anderson RM, Lawrence AR, Stottmann RW, Bachiller D, Klingensmith J. Chordin and noggin promote organizing centers of forebrain development in the mouse. Development (Cambridge, England). 129: 4975-87. PMID 12397106  0.706
2001 Stottmann RW, Anderson RM, Klingensmith J. The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth. Developmental Biology. 240: 457-73. PMID 11784076 DOI: 10.1006/Dbio.2001.0479  0.736
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