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International Journal of Cancer, ISSN 0020-7136, 04/2019, Volume 144, Issue 8, pp. 1962 - 1974
Journal Article
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 894 - 902
Journal Article
by Sinilnikova, Olga M and Dondon, Marie-Gabrielle and Eon-Marchais, Séverine and Damiola, Francesca and Barjhoux, Laure and Marcou, Morgane and Verny-Pierre, Carole and Sornin, Valérie and Toulemonde, Lucie and Beauvallet, Juana and Le Gal, Dorothée and Mebirouk, Noura and Belotti, Muriel and Caron, Olivier and Gauthier-Villars, Marion and Coupier, Isabelle and Buecher, Bruno and Lortholary, Alain and Dugast, Catherine and Gesta, Paul and Fricker, Jean-Pierre and Noguès, Catherine and Faivre, Laurence and Luporsi, Elisabeth and Berthet, Pascaline and Delnatte, Capucine and Bonadona, Valérie and Maugard, Christine M and Pujol, Pascal and Lasset, Christine and Longy, Michel and Bignon, Yves-Jean and Adenis, Claude and Venat-Bouvet, Laurence and Demange, Liliane and Dreyfus, Hélène and Frenay, Marc and Gladieff, Laurence and Mortemousque, Isabelle and Audebert-Bellanger, Séverine and Soubrier, Florent and Giraud, Sophie and Lejeune-Dumoulin, Sophie and Chevrier, Annie and Limacher, Jean-Marc and Chiesa, Jean and Fajac, Anne and Floquet, Anne and Eisinger, François and Tinat, Julie and Colas, Chrystelle and Fert-Ferrer, Sandra and Penet, Clotilde and Frebourg, Thierry and Collonge-Rame, Marie-Agnès and Barouk-Simonet, Emmanuelle and Layet, Valérie and Leroux, Dominique and Cohen-Haguenauer, Odile and Prieur, Fabienne and Mouret-Fourme, Emmanuelle and Cornélis, François and Jonveaux, Philippe and Bera, Odile and Cavaciuti, Eve and Tardivon, Anne and Lesueur, Fabienne and Mazoyer, Sylvie and Stoppa-Lyonnet, Dominique and Andrieu, Nadine
BMC Cancer, ISSN 1471-2407, 01/2016, Volume 16, Issue 1, pp. 13 - 606
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2017, Volume 25, Issue 8, pp. 930 - 934
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 10/2019, Volume 27, Issue 10, pp. 1519 - 1531
In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established... 
INTELLECTUAL DISABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | TBR1 | SPECTRUM | EPILEPTIC ENCEPHALOPATHY | TRUNCATING MUTATIONS | ONSET | PREDICTION | Phenotypes | Disease | Congenital defects | Genomics
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 2012, Volume 12, Issue 4, pp. 338 - 344
Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) can lead to the detection of healthy carriers. We report a unique assessment of family... 
Pulmonary/Respiratory | Family testing | Newborn screening | Cystic fibrosis | Carrier | 1-in-4 risk couple | DIAGNOSIS | IMPACT | RESPIRATORY SYSTEM | EXPERIENCE | MUTATIONS | CYSTIC-FIBROSIS GENE | Cystic Fibrosis - genetics | Humans | Cystic Fibrosis - diagnosis | Family Health | Female | Heterozygote | Male | France | Neonatal Screening | Genetic Testing - methods | Infant, Newborn | Family
Journal Article
Journal Article