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Journal Article
Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara 
ORCID: 0000-0002-0939-3213, Hunter, Jill, V, McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cedric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Milian, Francisca, Wentzensen, Ingrid M., Person, Richard E., Kury, Sebastien, Bezieau, Stephane, Uguen, Kevin, Ferec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Pena, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja and Schaaf, Christian P.
(2019).
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet. Med., 21 (8).
S. 1797 - 1808.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
Leman, Raphael ORCID: 0000-0003-1978-7133, Gaildrat, Pascaline ORCID: 0000-0002-6388-7628, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra ORCID: 0000-0003-4322-8497, Krieger, Sophie and Houdayer, Claude
(2018).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res., 46 (15).
S. 7913 - 7924.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie and Houdayer, Claude
(2018).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018).
Nucleic Acids Res., 46 (21).
S. 11656 - 11658.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Leman, Raphael, Gaildrat, Pascaline, Le Gac, Gerald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude ORCID: 0000-0002-2325-0710, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie ORCID: 0000-0001-7610-7355 and Houdayer, Claude
(2020).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018).
Nucleic Acids Res., 48 (3).
S. 1600 - 1602.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962