Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes von Amberger, Joanna S., Hamosh, Ada

Volltext

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) von Amberger, Joanna, Bocchini, Carol, Hamosh, Ada

Volltext

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange von Azzariti, Danielle R, Hamosh, Ada

Volltext

How many rare diseases are there? von Haendel, Melissa, Vasilevsky, Nicole, Unni, Deepak, Bologa, Cristian, Harris, Nomi, Rehm, Heidi, Hamosh, Ada, Baynam, Gareth, Groza, Tudor, McMurry, Julie, Dawkins, Hugh, Rath, Ana, Thaxton, Courtney, Bocci, Giovanni, Joachimiak, Marcin P., Köhler, Sebastian, Robinson, Peter N., Mungall, Chris, Oprea, Tudor I.

Volltext

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species von Shefchek, Kent A, Harris, Nomi L, Gargano, Michael, Matentzoglu, Nicolas, Unni, Deepak, Brush, Matthew, Keith, Daniel, Conlin, Tom, Vasilevsky, Nicole, Zhang, Xingmin Aaron, Balhoff, James P, Babb, Larry, Bello, Susan M, Blau, Hannah, Bradford, Yvonne, Carbon, Seth, Carmody, Leigh, Chan, Lauren E, Cipriani, Valentina, Cuzick, Alayne, Della Rocca, Maria, Dunn, Nathan, Essaid, Shahim, Fey, Petra, Grove, Chris, Gourdine, Jean-Phillipe, Hamosh, Ada, Harris, Midori, Helbig, Ingo, Hoatlin, Maureen, Joachimiak, Marcin, Jupp, Simon, Lett, Kenneth B, Lewis, Suzanna E, McNamara, Craig, Pendlington, Zoë M, Pilgrim, Clare, Putman, Tim, Ravanmehr, Vida, Reese, Justin, Riggs, Erin, Robb, Sofia, Roncaglia, Paola, Seager, James, Segerdell, Erik, Similuk, Morgan, Storm, Andrea L, Thaxon, Courtney, Thessen, Anne, Jacobsen, Julius O B, McMurry, Julie A, Groza, Tudor, Köhler, Sebastian, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A, Munoz-Torres, Monica C, Osumi-Sutherland, David

Volltext

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 von Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie

Volltext

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases von Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns

Volltext

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery von Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O.M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, François, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Züchner, Stephan, Boycott, Kym M., Rehm, Heidi L.

Volltext

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities von Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

Volltext

Insights into genetics, human biology and disease gleaned from family based genomic studies von Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

Volltext

The GA4GH Phenopacket schema defines a computable representation of clinical data von Jacobsen, Julius O. B., Baudis, Michael, Baynam, Gareth S., Beckmann, Jacques S., Beltran, Sergi, Buske, Orion J., Callahan, Tiffany J., Chute, Christopher G., Courtot, Mélanie, Danis, Daniel, Elemento, Olivier, Essenwanger, Andrea, Freimuth, Robert R., Gargano, Michael A., Groza, Tudor, Hamosh, Ada, Harris, Nomi L., Kaliyaperumal, Rajaram, Lloyd, Kevin C. Kent, Khalifa, Aly, Krawitz, Peter M., Köhler, Sebastian, Laraway, Brian J., Lehväslaiho, Heikki, Matalonga, Leslie, McMurry, Julie A., Metke-Jimenez, Alejandro, Mungall, Christopher J., Munoz-Torres, Monica C., Ogishima, Soichi, Papakonstantinou, Anastasios, Piscia, Davide, Pontikos, Nikolas, Queralt-Rosinach, Núria, Roos, Marco, Sass, Julian, Schofield, Paul N., Seelow, Dominik, Siapos, Anastasios, Smedley, Damian, Smith, Lindsay D., Steinhaus, Robin, Sundaramurthi, Jagadish Chandrabose, Swietlik, Emilia M., Thun, Sylvia, Vasilevsky, Nicole A., Wagner, Alex H., Warner, Jeremy L., Weiland, Claus, Haendel, Melissa A., Robinson, Peter N.

Volltext

OMIM.org: leveraging knowledge across phenotype–gene relationships von Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada

Volltext

Metabolic management of a successful pregnancy and postpartum complications in fructose‐1,6‐bisphosphatase deficiency von Ferguson, Callie, Madison, Anita, Hamosh, Ada, Koerner, Celide

Volltext

What’s in a name? Issues to consider when naming Mendelian disorders von Rasmussen, Sonja A., Hamosh, Ada, Amberger, Joanna, Arnold, Cassandra, Bocchini, Carol, O‘Neill, Marla J.F., Stumpf, Anne

Volltext

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases von Smedley, Damian, Köhler, Sebastian, Czeschik, Johanna Christina, Amberger, Joanna, Bocchini, Carol, Hamosh, Ada, Veldboer, Julian, Zemojtel, Tomasz, Robinson, Peter N

Volltext

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data von Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara

Volltext

Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita von Mary Armanios, Chen, Jiunn-Liang, Yen-Pei Christy Chang, Brodsky, Robert A., Anita Hawkins, Griffin, Constance A., James R. Eshleman, Cohen, Alan R., Chakravarti, Aravinda, Hamosh, Ada, Greider, Carol W.

Volltext

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families von Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

Volltext

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics von Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

Volltext

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases von Wang, Chiuhui Mary, Whiting, Amy Heagle, Rath, Ana, Anido, Roberta, Ardigò, Diego, Baynam, Gareth, Dawkins, Hugh, Hamosh, Ada, Le Cam, Yann, Malherbe, Helen, Molster, Caron M, Monaco, Lucia, Padilla, Carmencita D, Pariser, Anne R, Robinson, Peter N, Rodwell, Charlotte, Schaefer, Franz, Weber, Stefanie, Macchia, Flaminia

Volltext