The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease by Groza, Tudor, Köhler, Sebastian, Moldenhauer, Dawid, Vasilevsky, Nicole, Baynam, Gareth, Zemojtel, Tomasz, Schriml, Lynn Marie, Kibbe, Warren Alden, Schofield, Paul N., Beck, Tim, Vasant, Drashtti, Brookes, Anthony J., Zankl, Andreas, Washington, Nicole L., Mungall, Christopher J., Lewis, Suzanna E., Haendel, Melissa A., Parkinson, Helen, Robinson, Peter N.

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes by Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, van Haaften, Gijs, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., de Vries, Bert B.A., van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C.

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Molecular Analysis of Nondisjunction in Mice Heterozygous for a Robertsonian Translocation by Underkoffler, Lara A, Mitchell, Laura E, Localio, A. Russell, Marchegiani, Shannon M, Morabito, Justin, Collins, Joelle N, Oakey, Rebecca J

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Microarray expression profiling of tissues from mice with uniparental duplications of Chromosomes 7 and 11 to identify imprinted genes by Choi, Jonathan D, Underkoffler, Lara A, Collins, Joelle N, Marchegiani, Shannon M, Terry, Natalie A, Beechey, Colin V, Oakey, Rebecca J

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Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome by Rohena, Luis, Kuehn, Devon, Marchegiani, Shannon, Higginson, Jason D

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Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View by De Maria, Beatrice, de Jager, Tresia, Sarubbi, Caitlin, Bartsch, Oliver, Bianchi, Alberto, Brancati, Francesco, Chung, Hon-Yin B., David, Albert, Kariminejad, Ariana, Foresti, Maura, Gallottini, Marina, Isidor, Bertrand, Marchegiani, Shannon, Martins, Fabiana, Mazzanti, Laura, Roche, Nathalie, Singh, Ankur, Stevens, Cathy, Suga, Kenichi, Zenker, Martin, Hennekam, Raoul C.

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Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome by Rohena, Luis, Kuehn, Devon, Marchegiani, Shannon, Higginson, Jason D

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