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)
Get full text
Journal Article
Nosology of genetic skeletal disorders: 2023 revision
Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
Get full text
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)
Get full text
Journal Article
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
Van Dijk, F.S., Sillence, D.O.
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
Get full text
Journal Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
Get full text
Journal Article
Conference Proceeding
The 2017 international classification of the Ehlers–Danlos syndromes
Malfait, Fransiska, Francomano, Clair, Byers, Peter, Belmont, John, Berglund, Britta, Black, James, Bloom, Lara, Bowen, Jessica M., Brady, Angela F., Burrows, Nigel P., Castori, Marco, Cohen, Helen, Colombi, Marina, Demirdas, Serwet, De Backer, Julie, De Paepe, Anne, Fournel‐Gigleux, Sylvie, Frank, Michael, Ghali, Neeti, Giunta, Cecilia, Grahame, Rodney, Hakim, Alan, Jeunemaitre, Xavier, Johnson, Diana, Juul‐Kristensen, Birgit, Kapferer‐Seebacher, Ines, Kazkaz, Hanadi, Kosho, Tomoki, Lavallee, Mark E., Levy, Howard, Mendoza‐Londono, Roberto, Pepin, Melanie, Pope, F. Michael, Reinstein, Eyal, Robert, Leema, Rohrbach, Marianne, Sanders, Lynn, Sobey, Glenda J., Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Wheeldon, Nigel, Zschocke, Johannes, Tinkle, Brad
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Get full text
Journal Article
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
Get full text
Journal Article
Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
Ripperger, Tim, Bielack, Stefan S., Borkhardt, Arndt, Brecht, Ines B., Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus‐Michael, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Frühwald, Michael C., Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe, Körholz, Dieter, Koscielniak, Ewa, Kramm, Christof M., Kuhlen, Michaela, Kulozik, Andreas E., Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R., Meinhardt, Andrea, Metzler, Markus, Meyer, Lüder H., Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M., Nustede, Rainer, Pajtler, Kristian W., Paret, Claudia, Rasche, Mareike, Reinhardt, Dirk, Rieß, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber‐Sauer, Monika, Spix, Claudia, Stanulla, Martin, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, von Bueren, Andre O., Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Wössmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M., Kratz, Christian P.
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
Get full text
Journal Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups
Maas, Saskia M., Vansenne, Fleur, Kadouch, Daniel J. M., Ibrahim, Abdulla, Bliek, Jet, Hopman, Saskia, Mannens, Marcel M., Merks, Johannes H. M., Maher, Eamonn R., Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
Get full text
Journal Article
DNA extracted from saliva for methylation studies of psychiatric traits: Evidence tissue specificity and relatedness to brain
Smith, Alicia K., Kilaru, Varun, Klengel, Torsten, Mercer, Kristina B., Bradley, Bekh, Conneely, Karen N., Ressler, Kerry J., Binder, Elisabeth B.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2015)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2015)
Get full text
Journal Article
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
Wright, John Timothy, Fete, Mary, Schneider, Holm, Zinser, Madelaine, Koster, Maranke I., Clarke, Angus J., Hadj‐Rabia, Smail, Tadini, Gianluca, Pagnan, Nina, Visinoni, Atila F., Bergendal, Birgitta, Abbott, Becky, Fete, Timothy, Stanford, Clark, Butcher, Clayton, D'Souza, Rena N., Sybert, Virginia P., Morasso, Maria I.
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
Get full text
Journal Article
A framework for the classification of joint hypermobility and related conditions
Castori, Marco, Tinkle, Brad, Levy, Howard, Grahame, Rodney, Malfait, Fransiska, Hakim, Alan
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Get full text
Journal Article
Molecular genetics of 22q11.2 deletion syndrome
Morrow, Bernice E., McDonald‐McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
Get full text
Journal Article
Challenges of developing and conducting clinical trials in rare disorders
Kempf, Lucas, Goldsmith, Jonathan C., Temple, Robert
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
Get full text
Journal Article
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort
Steinman, Kyle J., Spence, Sarah J., Ramocki, Melissa B., Proud, Monica B., Kessler, Sudha K., Marco, Elysa J., Green Snyder, LeeAnne, D'Angelo, Debra, Chen, Qixuan, Chung, Wendy K., Sherr, Elliott H.
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
Get full text
Journal Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
Get full text
Journal Article