Total number of reads affects the accuracy of fetal fraction estimates in NIPT

por Miceikaitė, Ieva, Brasch‐Andersen, Charlotte, Fagerberg, Christina, Larsen, Martin Jakob
Publicado 2021

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

por Bygum, Anette, Fagerberg, Christina R, Clemmensen, Ole J, Fiebig, Britta, Hafner, Christian
Publicado 2011

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

por Mathorne, Stine Westergaard, Sørensen, Kristina, Fagerberg, Christina, Bode, Matthias, Hertz, Jens Michael
Publicado 2019

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

por Aabom, Anne, Andersen, Klaus E., Fagerberg, Christina, Fisker, Niels, Jakobsen, Marianne A., Bygum, Anette
Publicado 2017

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

por Sloth, Christine K., Denti, Federico, Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, Christina, Vissing, John, Gaist, David
Publicado 2018

A novel mutation affecting the arginine‐137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin‐2

por Hinrichs, Gitte R., Hansen, Louise H., Nielsen, Maria R., Fagerberg, Christina, Dieperink, Hans, Rittig, Søren, Jensen, Boye L.
Publicado 2016

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

por Riis, Sandra Simony Tornoe, Joergensen, Marianne Hoerby, Rasmussen, Kristina Fruerlund, Husby, Steffen, Hasselby, Jane Preuss, Borgwardt, Lise, Brusgaard, Klaus, Fagerberg, Christina Ringmann, Christesen, Henrik Thybo
Publicado 2021

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders

por Woike, Daniel, Wang, Emily, Tibbe, Debora, Hassani Nia, Fatemeh, Failla, Antonio Virgilio, Kibæk, Maria, Overgård, Tinett Martesen, Larsen, Martin J., Fagerberg, Christina R., Barsukov, Igor, Kreienkamp, Hans-Jürgen
Publicado 2022

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

por Sølyst, Sofus, Oksjoki, Riina, Farholt, Stense, Nielsen, Dorte Guldbrand, Christensen, Alex H., Fagerberg, Christina R., Risom, Lotte, Gregersen, Pernille Axél, Christensen, Maria Bejerholm, Rasmussen, Torsten Bloch, Diness, Birgitte Rode
Publicado 2022

A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity

por Assing, Kristian, Jørgensen, Sofie E., Sandgaard, Katrine S., De Keukeleere, Kerstin, B.-Hansen, Marie, Petersen, Mikkel S., Hartling, Ulla B., Vaal, Thanis M. K.-de, Nielsen, Christian, Jakobsen, Marianne A., Watt, Eleanor, Adams, Stuart, Hao, Qin, Fagerberg, Christina, Mogensen, Trine H.
Publicado 2023

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

por Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa
Publicado 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

por Melland, Holly, Bumbak, Fabian, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, John, Abinayah, Constantinou, Panayiotis, Joss, Shelagh, Larsen, Martin, Fagerberg, Christina, Laulund, Lone Walentin, Thies, Jenny, Emslie, Frances, Willemsen, Marjolein, Kleefstra, Tjitske, Pfundt, Rolf, Barrick, Rebekah, Chang, Richard, Loong, Lucy, Alfadhel, Majid, van der Smagt, Jasper, Nizon, Mathilde, Kurian, Manju A., Scott, Daniel J., Ziarek, Joshua J., Gordon, Sarah L., Baker, Kate
Publicado 2022

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

por Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Publicado 2019

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

por Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad
Publicado 2023

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado 2017

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023

PEDIA: prioritization of exome data by image analysis

por Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2019

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

por Gillentine, Madelyn A., Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Vissers, Lisenka E. L. M., Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A., Bhat, Gifty, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K., White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L. Manace, Mckee, Shane, Mirzaa, Ghayda M., Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
Publicado 2021

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

por van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publicado 2018

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

por van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publicado 2019