The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi

dc.contributor.author	Rieß, Olaf
dc.contributor.author	Graessner, Holm
dc.date.accessioned	2022-11-30T09:13:51Z
dc.date.available	2022-11-30T09:13:51Z
dc.date.issued	2022
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10900/133413
dc.language.iso	en	en
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.24353
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_00536
utue.publikation.seiten	717-733	de_DE
utue.personen.roh	Laurie, Steven
utue.personen.roh	Piscia, Davide
utue.personen.roh	Matalonga, Leslie
utue.personen.roh	Corvo, Alberto
utue.personen.roh	Fernandez-Callejo, Marcos
utue.personen.roh	Garcia-Linares, Carles
utue.personen.roh	Hernandez-Ferrer, Carles
utue.personen.roh	Luengo, Cristina
utue.personen.roh	Martinez, Ines
utue.personen.roh	Papakonstantinou, Anastasios
utue.personen.roh	Pico-Amador, Daniel
utue.personen.roh	Protasio, Joan
utue.personen.roh	Thompson, Rachel
utue.personen.roh	Tonda, Raul
utue.personen.roh	Bayes, Monica
utue.personen.roh	Bullich, Gemma
utue.personen.roh	Camps-Puchadas, Jordi
utue.personen.roh	Paramonov, Ida
utue.personen.roh	Trotta, Jean-Remi
utue.personen.roh	Alonso, Angel
utue.personen.roh	Attimonelli, Marcella
utue.personen.roh	Beroud, Christophe
utue.personen.roh	Bros-Facer, Virginie
utue.personen.roh	Buske, Orion J.
utue.personen.roh	Canada-Pallares, Andres
utue.personen.roh	Fernandez, Jose M.
utue.personen.roh	Hansson, Mats G.
utue.personen.roh	Horvath, Rita
utue.personen.roh	Jacobsen, Julius O. B.
utue.personen.roh	Kaliyaperumal, Rajaram
utue.personen.roh	Lair-Preterre, Severine
utue.personen.roh	Licata, Luana
utue.personen.roh	Lopes, Pedro
utue.personen.roh	Lopez-Martin, Estrella
utue.personen.roh	Mascalzoni, Deborah
utue.personen.roh	Monaco, Lucia
utue.personen.roh	Perez-Jurado, Luis A.
utue.personen.roh	Posada de la Paz, Manuel
utue.personen.roh	Rambla, Jordi
utue.personen.roh	Rath, Ana
utue.personen.roh	Riess, Olaf
utue.personen.roh	Robinson, Peter N.
utue.personen.roh	Salgado, David
utue.personen.roh	Smedley, Damian
utue.personen.roh	Spalding, Dylan
utue.personen.roh	't Hoen, Peter A. C.
utue.personen.roh	Topf, Ana
utue.personen.roh	Zaharieva, Irina
utue.personen.roh	Graessner, Holm
utue.personen.roh	Gut, Ivo G.
utue.personen.roh	Lochmuller, Hanns
utue.personen.roh	Beltran, Sergi
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	43	de_DE
utue.fakultaet	04 Medizinische Fakultät