eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

le Paglialonga, Alessia, Gaetano, Raffaella, Robert, Leema, Hurard, Marine, Botella, Luisa Maria, Barr, Natasha, Jondeau, Guillaume, Pini, Alessandro
Foilsithe in Orphanet J Rare Dis (2021)

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

le van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
Foilsithe in Orphanet J Rare Dis (2019)

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

le Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., Backer, Julie De
Foilsithe in J Am Coll Cardiol (2018)

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

le Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.
Foilsithe in Hum Mol Genet (2017)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

le Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Foilsithe in J Med Genet (2018)

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

le Thomson, Kate L., Ormondroyd, Elizabeth, Harper, Andrew R., Dent, Tim, McGuire, Karen, Baksi, John, Blair, Edward, Brennan, Paul, Buchan, Rachel, Bueser, Teofila, Campbell, Carolyn, Carr-White, Gerald, Cook, Stuart, Daniels, Matthew, Deevi, Sri V. V., Goodship, Judith, Hayesmoore, Jesse B. G, Henderson, Alex, Lamb, Teresa, Prasad, Sanjay, Rayner-Matthews, Paula, Robert, Leema, Sneddon, Linda, Stark, Hannah, Walsh, Roddy, Ware, James S., Farrall, Martin, Watkins, Hugh C.
Foilsithe in Genet Med (2018)

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

le Nunn, Laurence M., Lopes, Luis R., Syrris, Petros, Murphy, Cian, Plagnol, Vincent, Firman, Eileen, Dalageorgou, Chrysoula, Zorio, Esther, Domingo, Diana, Murday, Victoria, Findlay, Iain, Duncan, Alexis, Carr-White, Gerry, Robert, Leema, Bueser, Teofila, Langman, Caroline, Fynn, Simon P, Goddard, Martin, White, Anne, Bundgaard, Henning, Ferrero-Miliani, Laura, Wheeldon, Nigel, Suvarna, Simon K., O'Beirne, Aliceson, Lowe, Martin D., McKenna, William J., Elliott, Perry M., Lambiase, Pier D.
Foilsithe in Europace (2016)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

le Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Al Turki, Saeed H., Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M. M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E. F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew
Foilsithe in Nat Genet (2016)