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Photo of  Samantha Brugmann, PhD

Samantha Brugmann, PhD


Pediatrics | College of Medicine

  • Postdoctoral Research Fellowship: Stanford University (Chemical and Systems Biology)
  • Doctoral Degree: The George Washington University (Genetics)
  • Bachelor's Degree: Tulane University (Cell and Molecular Biology)
Contact Information
Research Interests

Craniofacial Development

Peer Reviewed Publications

Chang, Ching-Fang; Chang, Ya-Ting; Millington, Grethel; Brugmann, Samantha A 2016. Craniofacial Ciliopathies Reveal Specific Requirements for GLI Proteins during Development of the Facial Midline. PLoS genetics, 12 11, e1006351

Chang, Ya-Ting; Chaturvedi, Praneet; Schock, Elizabeth N; Brugmann, Samantha A 2016. Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid(2). Frontiers in physiology, 7 , 468

Romick-Rosendale, Lindsey E; Hoskins, Elizabeth E; Privette Vinnedge, Lisa M; Foglesong, Grant D; Brusadelli, Marion G; Potter, S Steven; Komurov, Kakajan; Brugmann, Samantha A; Lambert, Paul F; Kimple, Randall J; Virts, Elizabeth L; Hanenberg, Helmut; Gillison, Maura L; Wells, Susanne I 2016. Defects in the Fanconi Anemia Pathway in Head and Neck Cancer Cells Stimulate Tumor Cell Invasion through DNA-PK and Rac1 Signaling. Clinical cancer research : an official journal of the American Association for Cancer Research, 22 8, 2062-73

Schock, Elizabeth N; Chang, Ching-Fang; Youngworth, Ingrid A; Davey, Megan G; Delany, Mary E; Brugmann, Samantha A 2016. Utilizing the chicken as an animal model for human craniofacial ciliopathies. Developmental biology, 415 2, 326-37

Workman, Michael J; Mahe, Maxime M; Trisno, Stephen; Poling, Holly M; Watson, Carey L; Sundaram, Nambirajan; Chang, Ching-Fang; Schiesser, Jacqueline; Aubert, Philippe; Stanley, Edouard G; Elefanty, Andrew G; Miyaoka, Yuichiro; Mandegar, Mohammad A; Conklin, Bruce R; Neunlist, Michel; Brugmann, Samantha A; Helmrath, Michael A; Wells, James M 2016. Engineered human pluripotent-stem-cell-derived intestinal tissues with a functional enteric nervous system. Nature medicine, ,

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

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

Schock, Elizabeth N; Chang, Ching-Fang; Struve, Jaime N; Chang, Ya-Ting; Chang, Julie; Delany, Mary E; Brugmann, Samantha A 2015. Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome. Disease models & mechanisms, 8 8, 855-66

Chang, Anne L S; Atzmon, Gil; Bergman, Aviv; Brugmann, Samantha; Atwood, Scott X; Chang, Howard Y; Barzilai, Nir 2014. Identification of genes promoting skin youthfulness by genome-wide association study. The Journal of investigative dermatology, 134 3, 651-7

Chang, Ching-Fang; Schock, Elizabeth N; O'Hare, Elizabeth A; Dodgson, Jerry; Cheng, Hans H; Muir, William M; Edelmann, Richard E; Delany, Mary E; Brugmann, Samantha A 2014. The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2. Development (Cambridge, England), 141 15, 3003-12

Brugmann, Samantha A; Wells, James M 2013. Building additional complexity to in vitro-derived intestinal tissues. Stem cell research & therapy, 4 Suppl 1 , S1

Liu, Han; Lan, Yu; Xu, Jingyue; Chang, Ching-Fang; Brugmann, Samantha A; Jiang, Rulang 2013. Odd-skipped related-1 controls neural crest chondrogenesis during tongue development. Proceedings of the National Academy of Sciences of the United States of America, 110 46, 18555-60

Powder, Kara E; Ku, Yuan-Chieh; Brugmann, Samantha A; Veile, Rose A; Renaud, Nicole A; Helms, Jill A; Lovett, Michael 2012. A cross-species analysis of microRNAs in the developing avian face. PloS one, 7 4, e35111

Rada-Iglesias, Alvaro; Bajpai, Ruchi; Prescott, Sara; Brugmann, Samantha A; Swigut, Tomek; Wysocka, Joanna 2012. Epigenomic annotation of enhancers predicts transcriptional regulators of human neural crest. Cell stem cell, 11 5, 633-48

Cordero, Dwight R; Brugmann, Samantha; Chu, Yvonne; Bajpai, Ruchi; Jame, Maryam; Helms, Jill A 2011. Cranial neural crest cells on the move: their roles in craniofacial development. American journal of medical genetics. Part A, 155A 2, 270-9

Lenton, Kelly; James, Aaron W; Manu, Alina; Brugmann, Samantha A; Birker, Daniel; Nelson, Emily R; Leucht, Philipp; Helms, Jill A; Longaker, Michael T 2011. Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling. Genesis (New York, N.Y. : 2000), 49 10, 784-96

Levi, Benjamin; James, Aaron W; Nelson, Emily R; Brugmann, Samantha A; Sorkin, Michael; Manu, Alina; Longaker, Michael T 2011. Role of Indian hedgehog signaling in palatal osteogenesis. Plastic and reconstructive surgery, 127 3, 1182-90

Rada-Iglesias, Alvaro; Bajpai, Ruchi; Swigut, Tomek; Brugmann, Samantha A; Flynn, Ryan A; Wysocka, Joanna 2011. A unique chromatin signature uncovers early developmental enhancers in humans. Nature, 470 7333, 279-83

Zaghloul, Norann A; Brugmann, Samantha A 2011. The emerging face of primary cilia. Genesis (New York, N.Y. : 2000), 49 4, 231-46

Brugmann, Samantha A; Allen, Nancy C; James, Aaron W; Mekonnen, Zesemayat; Madan, Elena; Helms, Jill A 2010. A primary cilia-dependent etiology for midline facial disorders. Human molecular genetics, 19 8, 1577-92

Brugmann, Samantha A; Cordero, Dwight R; Helms, Jill A 2010. Craniofacial ciliopathies: A new classification for craniofacial disorders. American journal of medical genetics. Part A, 152A 12, 2995-3006

Levi, Benjamin; Brugmann, Samantha; Longaker, Michael T 2010. Discussion: Hes1 is required for the development of craniofacial structures derived from ectomesenchymal neural crest cells. The Journal of craniofacial surgery, 21 5, 1450-1

James, Aaron W; Theologis, Alexander A; Brugmann, Samantha A; Xu, Yue; Carre, Antoine L; Leucht, Philipp; Hamilton, Katherine; Korach, Kenneth S; Longaker, Michael T 2009. Estrogen/estrogen receptor alpha signaling in mouse posterofrontal cranial suture fusion. PloS one, 4 9, e7120

Anderson, Charles T; Castillo, Alesha B; Brugmann, Samantha A; Helms, Jill A; Jacobs, Christopher R; Stearns, Tim 2008. Primary cilia: cellular sensors for the skeleton. Anatomical record (Hoboken, N.J. : 2007), 291 9, 1074-8

Rinn, John L; Wang, Jordon K; Allen, Nancy; Brugmann, Samantha A; Mikels, Amanda J; Liu, Helen; Ridky, Todd W; Stadler, H Scott; Nusse, Roel; Helms, Jill A; Chang, Howard Y 2008. A dermal HOX transcriptional program regulates site-specific epidermal fate. Genes & development, 22 3, 303-7

Schlosser, Gerhard; Awtry, Tammy; Brugmann, Samantha A; Jensen, Eric D; Neilson, Karen; Ruan, Gui; Stammler, Angelika; Voelker, Doris; Yan, Bo; Zhang, Chi; Klymkowsky, Michael W; Moody, Sally A 2008. Eya1 and Six1 promote neurogenesis in the cranial placodes in a SoxB1-dependent fashion. Developmental biology, 320 1, 199-214

ten Berge, Derk; Brugmann, Samantha A; Helms, Jill A; Nusse, Roel 2008. Wnt and FGF signals interact to coordinate growth with cell fate specification during limb development. Development (Cambridge, England), 135 19, 3247-57

Brugmann, Samantha A; Goodnough, L Henry; Gregorieff, Alex; Leucht, Philipp; ten Berge, Derk; Fuerer, Christophe; Clevers, Hans; Nusse, Roel; Helms, Jill A 2007. Wnt signaling mediates regional specification in the vertebrate face. Development (Cambridge, England), 134 18, 3283-95

Goodnough, L Henry; Brugmann, Samantha A; Hu, Diane; Helms, Jill A 2007. Stage-dependent craniofacial defects resulting from Sprouty2 overexpression. Developmental dynamics : an official publication of the American Association of Anatomists, 236 7, 1918-28

Rinn, John L; Kertesz, Michael; Wang, Jordon K; Squazzo, Sharon L; Xu, Xiao; Brugmann, Samantha A; Goodnough, L Henry; Helms, Jill A; Farnham, Peggy J; Segal, Eran; Chang, Howard Y 2007. Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs. Cell, 129 7, 1311-23

Brugmann, Samantha A; Tapadia, Minal D; Helms, Jill A 2006. The molecular origins of species-specific facial pattern. Current topics in developmental biology, 73 , 1-42

Brugmann, Samantha A; Moody, Sally A 2005. Induction and specification of the vertebrate ectodermal placodes: precursors of the cranial sensory organs. Biology of the cell, 97 5, 303-19

Brugmann, Samantha A; Pandur, Petra D; Kenyon, Kristy L; Pignoni, Francesca; Moody, Sally A 2004. Six1 promotes a placodal fate within the lateral neurogenic ectoderm by functioning as both a transcriptional activator and repressor. Development (Cambridge, England), 131 23, 5871-81

Brugmann S.;Kim J.;Helms J. 12-01-2006. Looking different: Understanding diversity in facial form American Journal of Medical Genetics, Part A, 140 23, 2521-2529

Schock E.;Brugmann S. 11-15-2017. Neural crest cells utilize primary cilia to regulate ventral forebrain morphogenesis via Hedgehog-de Developmental Biology, 431 2, 168-178

Chang Y.;Chaturvedi P.;Schock E.;Brugmann S. 10-17-2016. Understanding mechanisms of GLI-mediated transcription during craniofacial development and disease u Frontiers in Physiology, 7 OCT,

Schock E.;Brugmann S. 09-01-2017. Discovery, diagnosis, and etiology of craniofacial ciliopathies Cold Spring Harbor Perspectives in Biology, 9 9,

Helms J.;Brugmann S. 09-01-2007. The origins of species-specific facial morphology: The proof is in the pigeon Integrative and Comparative Biology, 47 3, 338-342

Metzler M.;Raja S.;Elliott K.;Friedl R.;Tran N.;Brugmann S.;Larsen M.;Sandell L. 08-30-2018. Erratum: Correction: RDH10-mediated retinol metabolism and RAR?-mediated retinoic acid signaling are Development (Cambridge, England), 145 17,

Metzler M.;Raja S.;Elliott K.;Friedl R.;Tran N.;Brugmann S.;Larsen M.;Sandell L. 08-01-2018. RDH10-mediated retinol metabolism and RAR?-mediated retinoic acid signaling are required for submand Development (Cambridge), 145 15,

James A.;Brugmann S.;Carre A.;Jame M.;Longaker M. 07-21-2010. Invited commentary: Discharge prevalence estimation, high altitude and microtia in Ecuadorian patien Journal of Neonatal-Perinatal Medicine, 3 2, 85-86

Schock E.N.;Chang C.F.;Struve J.N.;Chang J.;Brugmann S.A. 07-13-2015. Using the talpid <sup>2</sup> as novel model for determining the cellular and molecular Cilia, SUPPLEMENT 1,

Elliott K.H.;Millington G.;Brugmann S.A. 06-01-2018. A novel role for cilia-dependent sonic hedgehog signaling during submandibular gland development Developmental Dynamics, 247 6, 818-831

Millington G.;Elliott K.;Chang Y.;Chang C.;Dlugosz A.;Brugmann S. 04-15-2017. Cilia-dependent GLI processing in neural crest cells is required for tongue development Developmental Biology, 424 2, 124-137

Elliott K.;Brugmann S. 03-01-2019. Sending mixed signals: Cilia-dependent signaling during development and disease Developmental Biology, 447 1, 28-41

Schock E.N.;Struve J.N.;Chang C.F.;Williams T.J.;Snedeker J.;Attia A.C.;Stottmann R.W.;Brugmann S.A. 03-01-2017. A tissue-specific role for intraflagellar transport genes during craniofacial development PLoS ONE, 12 3,

Snedeker J.;Schock E.N.;Struve J.N.;Chang C.F.;Cionni M.;Tran P.V.;Brugmann S.A.;Stottmann R.W. 03-01-2017. Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development PLoS ONE, 12 3,

Brugmann S.A.;Powder K.E.;Young N.M.;Goodnough L.H.;Hahn S.M.;James A.W.;Helms J.A.;Lovett M. 03-01-2010. Comparative gene expression analysis of avian embryonic facial structures reveals new candidates for Human Molecular Genetics, 19 5, 920-930

Chang C.F.;Schock E.N.;Billmire D.A.;Brugmann S.A. 01-01-2015. Craniofacial Syndromes: Etiology, Impact and Treatment Principles of Developmental Genetics: Second Edition, , 653-676

Brugmann S.;Helms J. 01-01-2007. Shaping up and shipping out: the role of cilia in growth and patterning. Journal of musculoskeletal &amp; neuronal interactions, 7 4, 300