Pseudoautosomal region 1 length polymorphism in the human population by Mensah, Martin A, Hestand, Matthew S, Larmuseau, Maarten H D, Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L, Van Houdt, Jeroen, Stoeva, Radka, Van Esch, Hilde, Devriendt, Koen, Voet, Thierry, Decorte, Ronny, Robinson, Peter N, Vermeesch, Joris R

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter by Kirchhoff, Maria, Bisgaard, Anne-Marie, Stoeva, Radka, Dimitrov, Boyan, Gillessen-Kaesbach, Gabriele, Fryns, Jean-Pierre, Rose, Hanne, Grozdanova, Liliana, Ivanov, Ivan, Keymolen, Kathelijn, Fagerberg, Christina, Tranebjaerg, Lisbeth, Skovby, Flemming, Stefanova, Margarita

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Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies by Stehr, Antonia M., Lenberg, Jerica, Friedman, Jennifer, Dobbelaere, Dries, Imbard, Apolline, Levy, Jonathan, Donoghue, Sarah, Derive, Nicolas, Stoeva, Radka, Gueguen, Paul, Zech, Michael

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Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistals... by Billon, Clarisse, Piccoli, Giorgina Barbara, de Sainte Agathe, Jean-Madeleine, Stoeva, Radka, Derive, Nicolas, Heidet, Laurence, Berrebi, Dominique, Bruneval, Patrick, Jeunemaitre, Xavier, Hureaux, Marguerite

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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum by Pingault, Véronique, Neiva-Vaz, Cécilia, de Oliveira, Judite, Martínez-Gil, Núria, Lasa-Aranzasti, Amaia, Campos, Berta, Lakeman, Inge M M, Nibbeling, Esther A R, Stoeva, Radka, Jayakar, Parul, Dabir, Tabib, Elloumi, Houda Zghal, Strong, Alanna, Hanein, Sylvain, Picard, Arnaud, Ochsenbein, Francoise, Blanc, Pierre, Amiel, Jeanne

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth by Harms, Frederike L, Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D M, Kalfa, Theodosia A, Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin

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An Update of Phenotypic–Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants by Sharkia, Rajech, Vuillaume, Marie-Laure, Jain, Sahil, Mahajnah, Muhammad, Stoeva, Radka, Guichet, Agnès, Colin, Estelle, Champ, Jérome, Derive, Nicolas, Chefdor, Arnaud, Zalan, Abdelnaser

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Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility by Lafraoui, Imène, Heddar, Abdelkader, Cantalloube, Adèle, Braham, Inès, Peigné, Maëliss, Beneteau, Claire, Gricourt, Solenne, Poirsier, Claire, Legrand, Stéphanie, Stoeva, Radka, Metayer-Amelot, Laure, Lobersztajn, Annina, Lebrun, Soizic, Gruchy, Nicolas, Abdennebi, Inès, Cedrin-Durnerin, Isabelle, Fernandez, Hervé, Luton, Dominique, Torre, Antoine, Zagdoun, Léonore, Chevalier, Nicolas, Khrouf, Mohamed, Mahmoud, Khaled, Epelboin, Sylvie, Catteau-Jonard, Sophie, Misrahi, Micheline

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability by Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Du, Haowei, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Sals, Karen, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Dermaut, Bart, Sadikovic, Bekim, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants by Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas by Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric

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Severe Phenotype in Patients with Large Deletions of NF1 by Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Members Of The Nf France Network, Wolkenstein, Pierre, Pasmant, Eric

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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France by Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Doco-Fenzy, Martine, Poirsier, Céline, Spodenkiewicz, Marta, Lissy, Lola, Lannoy, Audrey, Shaefer, Elise, Chehadeh, Salima El, Amiel, Jeanne, Mignot, Cyril, Melki, Judith, Whalen, Sandra, Lackmy, Marilyn Irène, Funalot, Benoit, Morin, Gilles, Gérard, Marion, Gruchy, Nicolas, Molin, Arnaud, Toutain, Annick, Arpin, Stéphanie, Blesson, Sophie, Jeanne, Médéric, Isidor, Bertrand, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bonneau, Dominique, Colin, Estelle, Ziegler, Alban, Audebert-Bellanger, Séverine, Stoeva, Radka, Demurger, Florence, Thevenon, Julien, Francannet, Christine, Troude, Baptiste, Haye, Damien, Collignon, Patrick, Gilbert-Dussardier, Brigitte, Egloff, Mattieu, Le Guyader, Gwenaël, Letard, Pascaline, Sarrazin, Elisabeth, Giguet-Valard, Anna-Gaëlle, Damaj, Léna, Fradin, Mélanie, Lavillaureix, Alinoe, Jean-Marçais, Nolwenn, Morel, Godelieve, Quelin, Chloé, Naudion, Sophie, Legendre, Marine, Van-Gils, Julien, Rooryck-Thambo, Caroline, Boute, Odile, Dieux, Anne, Vincent-Delorme, Catherine, Ghoumid, Jamal, Vanlerberghe, Clémence, Caumes, Roseline, Colson, Cindy, Marsili, Luisa, Wyrebski, Antoine, Bellengier, Laurence, Houdayer, Françoise, Putoux, Audrey, Busa, Tiffany, Riccardi, Florence, Missirian, Chantal, Blanchet, Patricia, Haquet, Emmanuelle, Pinson, Lucile, Puechberty, Jacques, Wells, Constance, Capri, Yline, Perrin, Laurence, Passemard, Sandrine, Ruand, Lyse, Nambot, Sophie, Delanne, Julian, Moutton, Sébastien, Sorlin, Arthur, Lehalle, Daphné, Garde, Aurore

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Further delineation of the SCAF4-associated neurodevelopmental disorder by Schmid, Cosima M, Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B, Falb, Ruth J, Müller, Amelie J, Linden, Tobias, Haldeman-Englert, Chad R, Ockeloen, Charlotte W, Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer A, Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M, Elloumi, Houda Z, Person, Richard, Zou, Fanggeng, Kahle, Juliette J, Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M, Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J M, Elshafie, Reem M, Alsharhan, Hind, Hillman, Paul R, Dunnington, Leslie A, Braakman, Hilde M H, McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S, Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tümer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G, Abreu, Nicolas J, Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, Zweier, Christiane

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Pseudoautosomal Region 1 Length Polymorphism in the Human Population: e1004578 by Mensah, Martin A, Hestand, Matthew S, Larmuseau, Maarten HD, Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L, Houdt, Jeroen Van, Stoeva, Radka, Esch, Hilde Van, Devriendt, Koen, Voet, Thierry, Decorte, Ronny, Robinson, Peter N, Vermeesch, Joris R

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The European MultiPartner IPF registry (EMPIRE): validating long-term prognostic factors in idiopathic pulmonary fibrosis by Tran, Tanja, Šterclová, Martina, Mogulkoc, Nesrin, Lewandowska, Katarzyna, Müller, Veronika, Hájková, Marta, Kramer, Mordechai R, Jovanović, Dragana, Tekavec-Trkanjec, Jasna, Studnicka, Michael, Stoeva, Natalia, Hejduk, Karel, Dušek, Ladislav, Suissa, Samy, Vašáková, Martina

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Fecal Carriage and Epidemiology of Extended-Spectrum Beta-Lactamase/Carbapenemases Producing Enterobacterales Isolates in Bulgarian Hospitals by Markovska, Rumyana, Stankova, Petya, Stoeva, Temenuga, Ivanova, Dobrinka, Pencheva, Daniela, Kaneva, Radka, Boyanova, Lyudmila

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Clonal dissemination of multilocus sequence type ST15 KPC-2-producing Klebsiella pneumoniae in Bulgaria by Markovska, Rumyana, Stoeva, Temenuga, Schneider, Ines, Boyanova, Lyudmila, Popova, Valentina, Dacheva, Daniela, Kaneva, Radka, Bauernfeind, Adolf, Mitev, Vanyo, Mitov, Ivan

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