Nosology and classification of genetic skeletal disorders: 2019 revision
Mortier, Geert R., Cohn, Daniel H., Cormier‐Daire, Valerie, Hall, Christine, Krakow, Deborah, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Superti‐Furga, Andrea, Unger, Sheila, Warman, Matthew L.
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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Journal Article
Nosology and classification of genetic skeletal disorders: 2015 revision
Bonafe, Luisa, Cormier-Daire, Valerie, Hall, Christine, Lachman, Ralph, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Spranger, Jürgen, Superti-Furga, Andrea, Warman, Matthew, Unger, Sheila
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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Journal Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea
Published in Nature genetics (01.07.2016)
Published in Nature genetics (01.07.2016)
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Journal Article
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
Bürgi, Jérôme, Kunz, Béatrice, Abrami, Laurence, Deuquet, Julie, Piersigilli, Alessandra, Scholl-Bürgi, Sabine, Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Bonaldo, Paolo, van der Goot, F Gisou
Published in Nature communications (12.06.2017)
Published in Nature communications (12.06.2017)
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Journal Article
Nosology and classification of genetic skeletal disorders: 2010 revision
Warman, Matthew L., Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L., Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Journal Article
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Journal Article
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome
Guen, Vincent J., Gamble, Carly, Flajolet, Marc, Unger, Sheila, Thollet, Aurélie, Ferandin, Yoan, Superti-Furga, Andrea, Cohen, Pascale A., Meijer, Laurent, Colas, Pierre
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
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Journal Article
Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making?
Fadda, Marta, Chappuis, Pierre O, Katapodi, Maria C, Pagani, Olivia, Monnerat, Christian, Membrez, Véronique, Unger, Sheila, Caiata Zufferey, Maria
Published in PloS one (08.10.2020)
Published in PloS one (08.10.2020)
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Journal Article
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, Bedeschi, Maria Francesca, Geiberger, Stefan, Grigelioniene, Giedre, Horemuzova, Eva, Lalatta, Faustina, Lausch, Ekkehart, Magnani, Cinzia, Nampoothiri, Sheela, Nishimura, Gen, Petrella, Duccio, Rojas-Ringeling, Francisca, Utsunomiya, Akari, Zabel, Bernhard, Pradervand, Sylvain, Harshman, Keith, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Giulio, Stevenson, Brian, Superti-Furga, Andrea
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Journal Article
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer
Stoll, Susanna, Unger, Sheila, Azzarello-Burri, Silvia, Chappuis, Pierre, Graffeo, Rossella, Pichert, Gabriella, Röthlisberger, Benno, Taban, Francois, Riniker, Salome
Published in Swiss medical weekly (13.09.2021)
Published in Swiss medical weekly (13.09.2021)
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Journal Article
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways
Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, Idaira, Yayoi, Asada, Yoshinobu, Kitamura, Hiroshi, Yamasaki, Satoru, Hojyo, Shintaro, Nakayama, Manabu, Ohara, Osamu, Koseki, Haruhiko, Dos Santos, Heloisa G, Bonafe, Luisa, Ha-Vinh, Russia, Zankl, Andreas, Unger, Sheila, Kraenzlin, Marius E, Beckmann, Jacques S, Saito, Ichiro, Rivolta, Carlo, Ikegawa, Shiro, Superti-Furga, Andrea, Hirano, Toshio
Published in PloS one (05.11.2008)
Published in PloS one (05.11.2008)
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Journal Article
BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs?
Dubsky, Peter, Jackisch, Christian, Im, Seock-Ah, Hunt, Kelly K, Li, Chien-Feng, Unger, Sheila, Paluch-Shimon, Shani
Published in NPJ breast cancer (05.09.2024)
Published in NPJ breast cancer (05.09.2024)
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Journal Article
TRPV4-associated skeletal dysplasias
Nishimura, Gen, Lausch, Ekkehart, Savarirayan, Ravi, Shiba, Masahiro, Spranger, Juergen, Zabel, Bernhard, Ikegawa, Shiro, Superti-Furga, Andrea, Unger, Sheila
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
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Journal Article
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
Kumps, Camille, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila
Published in Journal of human genetics (01.11.2020)
Published in Journal of human genetics (01.11.2020)
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Journal Article
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life
Aubry-Rozier, Bérengère, Richard, Céline, Unger, Sheila, Hans, Didier, Campos-Xavier, Belinda, Schneider, Patrick, Paquier, Célia, Pasche, Jennifer, Bonafé, Luisa, Bregou, Aline, Swiss Medical Weekly
Published in Swiss medical weekly (06.07.2020)
Published in Swiss medical weekly (06.07.2020)
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Journal Article
Nosology and classification of genetic skeletal disorders: 2006 revision
Superti-Furga, Andrea, Unger, Sheila
Published in American journal of medical genetics. Part A (01.01.2007)
Published in American journal of medical genetics. Part A (01.01.2007)
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Journal Article
Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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Journal Article
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea
Published in Genes (14.04.2020)
Published in Genes (14.04.2020)
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