BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
Wooderchak-Donahue, Whitney L., McDonald, Jamie, O’Fallon, Brendan, Upton, Paul D., Li, Wei, Roman, Beth L., Young, Sarah, Plant, Parker, Fülöp, Gyula T., Langa, Carmen, Morrell, Nicholas W., Botella, Luisa M., Bernabeu, Carmelo, Stevenson, David A., Runo, James R., Bayrak-Toydemir, Pinar
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment
Schimmel, Katharina, Ali, Md Khadem, Tan, Serena Y., Teng, Joyce, Do, Huy M., Steinberg, Gary K., Stevenson, David A., Spiekerkoetter, Edda
Published in International journal of molecular sciences (21.08.2021)
Published in International journal of molecular sciences (21.08.2021)
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Journal Article
Contributing factors of mortality in Prader–Willi syndrome
Proffitt, Jennifer, Osann, Kathryn, McManus, Barbara, Kimonis, Virginia E., Heinemann, Janalee, Butler, Merlin G., Stevenson, David A., Gold, June‐Anne
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
Wooderchak-Donahue, Whitney L, Johnson, Peter, McDonald, Jamie, Blei, Francine, Berenstein, Alejandro, Sorscher, Michelle, Mayer, Jennifer, Scheuerle, Angela E, Lewis, Tracey, Grimmer, J Fredrik, Richter, Gresham T, Steeves, Marcie A, Lin, Angela E, Stevenson, David A, Bayrak-Toydemir, Pinar
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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Journal Article
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Macmurdo, Colleen F., Wooderchak-Donahue, Whitney, Bayrak-Toydemir, Pinar, Le, Jenny, Wallenstein, Matthew B., Milla, Carlos, Teng, Joyce M. C., Bernstein, Jonathan A., Stevenson, David A.
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Journal Article
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Joshi, Ricky S., Garg, Paras, Zaitlen, Noah, Lappalainen, Tuuli, Watson, Corey T., Azam, Nidha, Ho, Daniel, Li, Xin, Antonarakis, Stylianos E., Brunner, Han G., Buiting, Karin, Cheung, Sau Wai, Coffee, Bradford, Eggermann, Thomas, Francis, David, Geraedts, Joep P., Gimelli, Giorgio, Jacobson, Samuel G., Le Caignec, Cedric, de Leeuw, Nicole, Liehr, Thomas, Mackay, Deborah J., Montgomery, Stephen B., Pagnamenta, Alistair T., Papenhausen, Peter, Robinson, David O., Ruivenkamp, Claudia, Schwartz, Charles, Steiner, Bernhard, Stevenson, David A., Surti, Urvashi, Wassink, Thomas, Sharp, Andrew J.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Osteogenesis imperfecta type XVII: expansion of the phenotype
Dunleavy, Brooke M., Schildt, Alison J., Harrington, Caitlin, Stevenson, David A.
Published in Egyptian Journal of Medical Human Genetics (01.12.2024)
Published in Egyptian Journal of Medical Human Genetics (01.12.2024)
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Journal Article
Genetic Variants Associated with Port-Wine Stains
Frigerio, Alice, Wright, Karol, Wooderchak-Donahue, Whitney, Tan, Oon T, Margraf, Rebecca, Stevenson, David A, Grimmer, J Fredrik, Bayrak-Toydemir, Pinar
Published in PloS one (20.07.2015)
Published in PloS one (20.07.2015)
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Journal Article
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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Journal Article
Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice
Sharma, Richa, Wu, Xiaohua, Rhodes, Steven D, Chen, Shi, He, Yongzheng, Yuan, Jin, Li, Jiliang, Yang, Xianlin, Li, Xiaohong, Jiang, Li, Kim, Edward T, Stevenson, David A, Viskochil, David, Xu, Mingjiang, Yang, Feng-Chun
Published in Human molecular genetics (01.12.2013)
Published in Human molecular genetics (01.12.2013)
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Journal Article
The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients
Warrington, Nicole M, Sun, Tao, Luo, Jingqin, McKinstry, Robert C, Parkin, Patricia C, Ganzhorn, Sara, Spoljaric, Debra, Albers, Anne C, Merkelson, Amanda, Stewart, Douglas R, Stevenson, David A, Viskochil, David, Druley, Todd E, Forys, Jason T, Reilly, Karlyne M, Fisher, Michael J, Tabori, Uri, Allen, Jeffrey C, Schiffman, Joshua D, Gutmann, David H, Rubin, Joshua B
Published in Cancer research (Chicago, Ill.) (01.01.2015)
Published in Cancer research (Chicago, Ill.) (01.01.2015)
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Journal Article
Dystrophic spinal deformities in a neurofibromatosis type 1 murine model
Rhodes, Steven D, Zhang, Wei, Yang, Dalong, Yang, Hao, Chen, Shi, Wu, Xiaohua, Li, Xiaohong, Yang, Xianlin, Mohammad, Khalid S, Guise, Theresa A, Bergner, Amanda L, Stevenson, David A, Yang, Feng-Chun
Published in PloS one (18.03.2015)
Published in PloS one (18.03.2015)
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Journal Article
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Hartung, Anne-Mette, Swensen, Jeff, Uriz, Inaki E, Lapin, Morten, Kristjansdottir, Karen, Petersen, Ulrika S S, Bang, Jeanne Mari V, Guerra, Barbara, Andersen, Henriette Skovgaard, Dobrowolski, Steven F, Carey, John C, Yu, Ping, Vaughn, Cecily, Calhoun, Amy, Larsen, Martin R, Dyrskjøt, Lars, Stevenson, David A, Andresen, Brage S
Published in PLoS genetics (19.05.2016)
Published in PLoS genetics (19.05.2016)
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Journal Article
Double Inactivation of NF1 in Tibial Pseudarthrosis
Stevenson, David A., Zhou, Holly, Ashrafi, Shadi, Messiaen, Ludwine M., Carey, John C., D’Astous, Jacques L., Santora, Stephen D., Viskochil, David H.
Published in American journal of human genetics (01.07.2006)
Published in American journal of human genetics (01.07.2006)
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Journal Article
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1
Kühnisch, Jirko, Seto, Jong, Lange, Claudia, Schrof, Susanne, Stumpp, Sabine, Kobus, Karolina, Grohmann, Julia, Kossler, Nadine, Varga, Peter, Osswald, Monika, Emmerich, Denise, Tinschert, Sigrid, Thielemann, Falk, Duda, Georg, Seifert, Wenke, El Khassawna, Thaqif, Stevenson, David A, Elefteriou, Florent, Kornak, Uwe, Raum, Kay, Fratzl, Peter, Mundlos, Stefan, Kolanczyk, Mateusz
Published in PloS one (21.01.2014)
Published in PloS one (21.01.2014)
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Journal Article
Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
Elefteriou, Florent, Kolanczyk, Mateusz, Schindeler, Aaron, Viskochil, David H., Hock, Janet M., Schorry, Elizabeth K., Crawford, Alvin H., Friedman, Jan M., Little, David, Peltonen, Juha, Carey, John C., Feldman, David, Yu, Xijie, Armstrong, Linlea, Birch, Patricia, Kendler, David L., Mundlos, Stefan, Yang, Feng-Chun, Agiostratidou, Gina, Hunter-Schaedle, Kim, Stevenson, David A.
Published in American journal of medical genetics. Part A (01.10.2009)
Published in American journal of medical genetics. Part A (01.10.2009)
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