Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration

Authors: Hirata, Yasuko ^{1, ∗}, Brems, Hilde ², Van der Auweraer, Seppe ², Ohyagi, Masaki ¹, Iizuka, Mana ¹, Mise-Omata, Setsuko ¹, Ito, Minako ³, Messiaen, Ludwine ⁴, Mizuno, Seiya ⁵, Takahashi, Satoru ⁵, Legius, Eric ², Yoshimura, Akihiko ^{1, 6, ∗}

Source: In Journal of Biological Chemistry December 2024 300(12)

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization

Authors: Mariano, Vittoria, Kanellopoulos, Alexandros K., Ricci, Carlotta, Di Marino, Daniele, Borrie, Sarah C., Dupraz, Sebastian, Bradke, Frank, Achsel, Tilmann, Legius, Eric, Odent, Sylvie, Billuart, Pierre, Bienvenu, Thierry, Bagni, Claudia

Source: In Biological Psychiatry 15 January 2024 95(2):161-174

Current state-of-the-art and gaps in platform trials: 10 things you should know, insights from EU-PEARL

Authors: Sánchez-Montalva, Adrian, Estevez, Ana Belén, Sánchez, Àlex, Sanjuan, Anna, Sena, Elena, Granados, Emma, Arévalo de Andrés, Esther, Nuñez, Fátima, Arteaga, Gara, Fuentes Ruiz, Gabriela Perez, Fernández, Guillermo, Rivera-Esteban, Jesus, Comella, Joan, Ramos-Quiroga, Josep Antoni, Genescà, Joan, Espinosa, Juan, Pericàs, Juan Manuel, Murcia, Lada, Cash-Gibson, Lucinda, de Valles Silvosa, Maria, Barroso de Sousa, María Fernanda, Sánchez-Maroto Carrizo, Olga, Ibañez-Jiménez, Pol, Augustin, Salvador, Perez-Hoyos, Santiago, Rodríguez-Navarro, Sarai, Muñoz-Martínez, Sergio, Serres, Silvia, Kalko, Susana, Michon, Amelie, Ussi, Anton, Lydall, Ben, van de Ketterij, Edwin, Quiles, Ignacio, Carapina, Tamara, Kumaus, Constantin, Ramazanova, Dariga, Meyer, Elias Laurin, Koenig, Franz, Roig, Marta Bofill, Brunner, Martin, Posch, Martin, Krotka, Pavla, Zehetmayer, Sonja, Carton, Charlotte, Legius, Eric, Begum, Amina, Pariante, Carmine, Worrell, Courtney, Lombardo, Giulia, Sforzini, Luca, Brown, Mollie, Gullet, Nancy, Amasi-Hartoonian, Nare, Ferner, Rosalie, Kose, Melisa, Spitaleri, Andrea, Ghodousi, Arash, Di Serio, Clelia, Cirillo, Daniela, Cugnata, Federica, Saluzzo, Francesca, Benedetti, Francesco, Scarale, Maria Giovanna, Zini, Michela, Rancoita, Paola Maria, Alagna, Riccardo, Poletti, Sara, Dhaenens, Britt, Van Der Lei, Johan, de Steenwinkel, Jurriaan, Moinat, Maxim, Oostenbrink, Rianne, Hoogendijk, Witte, Hölscher, Michael, Heinrich, Norbert, Otte, Christian, Potratz, Cornelia, Zocholl, Dario, Kulakova, Eugenia, Tacke, Frank, Brasanac, Jelena, Leubner, Jonas, Krajewska, Maja, Freitag, Michaela Maria, Gold, Stefan, Zoller, Thomas, Chae, Woo Ri, Daniel, Christel, Kara, Leila, Vaterkowski, Morgan, Griffon, Nicolas, Wolkenstein, Pierre, Pais, Raluca, Ratziu, Vlad, Voets, David, Maes, Christophe, Kalra, Dipak, Thienpoint, Geert, Deckerck, Jens, Lea, Nathan, Singleton, Peter, Viele, Kert, Jacko, Peter, Berry, Scott, Parke, Tom, Aydin, Burç, Kubiak, Christine, Demotes, Jacques, Ueda, Keiko, Matei, Mihaela, Contrino, Sergio, Röhl, Claas, Cordero, Estefania, Greenhalgh, Fiona, Jarke, Hannes, Angelova, Juliana, Boudes, Mathieu, Dressler, Stephan, Strammiello, Valentina, Anstee, Quentin, Gutierrez-Ibarluzea, Iñaki, Otte, Maximilian, Heimbach, Natalie, Hofner, Benjamin, Burgwinkel, Cora, Kaestel, Hue, Hees, Katharina, Nguyen, Quynh, Prieto-Alhambra, Daniel, Tan, Eng Hooi (Cheryl), Raviglione, Mario, de Colombani, Pierpaolo, Villa, Simone, Maron, Eduard, Evans, Gareth, Savitz, Adam J., Van Dessel, Ann, Duca, Anna, Kaminski, Anne, Wouters, Bie, Porter, Brandon, Charron, Catherine, Spiertz, Cecile, Zizzamia, Christopher, Millar, Daniel, Hasselbaink, Danny, Orr, David, Kesters, Divya, Hubin, Ellen, Davies, Emma, Didden, Eva-Maria, Guz, Gabriela, Verstraete, Evelyn, Mao, Gary, Capuano, George, Martynowicz, Heddie, De Smedt, Heidi, Larsson, Ingela, Bruegelmans, Ines, Coste, Isabelle, Gonzalez Moreno, Jesus Maria, Niewczas, Julia, Xu, Jiajun, Rombouts, Karin, Woo, Katherine, Wuyts, Kathleen, Hersh, Kathryn, Oldenburg, Khrista, Zhang, Lingjiao, Schmidt, Mark, Szuch, Mark, Todorovic, Marija, Mangelaars, Maartje, Grewal, Melissa, Sandor, Molli, Di Prospero, Nick, Van Houten, Pamela, Minnick, Pansy, Bastos, Polyana, Patrizi, Robert, Morello, Salvatore, De Wilde, Severijn, Sun, Tao, Kline, Timothy, de Marez, Tine, Mielke, Tobias, Reijns, Tom, Popova, Vanina, Flossbach, Yanina, Tymofyeyev, Yevgen, De Groote, Zeger, Sverdlov, Alex, Bobirca, Alexandra, Krause, Annekatrin, Bobrica, Catalin, Heintz, Daniela, Magirr, Dominic, Glimm, Ekkehard, Baffert, Fabienne, Castiglione, Federica, Caruso, Franca, Patalano, Francesco, Bretz, Frank, Heimann, Guenter, Carbarns, Ian, Rodríguez, Ignacio, Ratescu, Ioana, Hampson, Lisa, Pedrosa, Marcos, Hark, Mareile, Mesenbrink, Peter, Penna, Sabina Hernandez, Bergues-Lang, Sarah, Baltes-Engler, Susanne, Arsiwala, Tasneem, Mondragon, Valeria Jordan, Guo, Hua, Da Costa, Jose Leite, Burman, Carl-Fredrik, Kirk, George, Aaes-Jørgensen, Anders, Dirach, Jorgen, Kjær, Mette Skalshøi, Martin, Alexandra, Hristov, Diyan, Rousseaux, Florent, Hittel, Norbert, Dornheim, Robert, Evans, Daniel, Sykes, Nick, Couvert, Camille, Leuven, Catherine, Notelet, Loïc, Gidh-Jain, Madhavi, Jouannin, Mathieu, Ammour, Nadir, Pierre, Suzanne, Haufe, Volker, Dong, Yingwen, Dubanchet, Catherine, de Préville, Nathalie, Baltauss, Tania, Jian, Zhu, Shnider, Sara, Bar-El, Tal, Bakker, Annette, Nievo, Marco, Iloeje, Uche, Conradie, Almari, Auffarrth, Ece, Lombard, Leandra, Benhayoun, Majda, Olugbosi, Morounfolu, Seidel, Stephanie S., Gumí, Berta, Guzmán, Claudia García, Molero, Eva, Pairó, Gisela, Machin, Núria, Cardelús, Raimon, Ramasastry, Saira, Pelzer, Saskia, Kremer, Andreas, Lindfors, Erno, Lynch, Chris, Spiertz, Cécile, Machín, Núria, Pericàs, Juan M.

Source: In eClinicalMedicine January 2024 67

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Authors: Denommé-Pichon, Anne-Sophie, Collins, Stephan C., Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E., Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E., Overs, Alexis, Palomares-Bralo, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, Yalcin, Binnaz

Source: In Genetics in Medicine July 2023 25(7)

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

Authors: Magallón-Lorenz, Miriam, Terribas, Ernest, Ortega-Bertran, Sara, Creus-Bachiller, Edgar, Fernández, Marco, Requena, Gerard, Rosas, Inma, Mazuelas, Helena, Uriarte-Arrazola, Itziar, Negro, Alex, Lausová, Tereza, Castellanos, Elisabeth, Blanco, Ignacio, DeVries, George, Kawashima, Hiroyuki, Legius, Eric, Brems, Hilde, Mautner, Viktor, Kluwe, Lan, Ratner, Nancy, Wallace, Margaret, Fernández-Rodriguez, Juana, Lázaro, Conxi, Fletcher, Jonathan A., Reuss, David, Carrió, Meritxell, Gel, Bernat, Serra, Eduard

Source: In iScience 17 February 2023 26(2)

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Authors: Brunet, Joan, Van Calenbergh, Frank, Cassiman, Catherine, Czech, Thomas, Gavarrete de León, María José, Giele, Henk, Henley, Susie, Lazaro, Conxi, Lipkovskaya, Vera, Maher, Eamonn R., Martin, Vanessa, Mathijssen, Irene, Opocher, Enrico, Pires, Ana Elisabete, Pletschko, Thomas, Poupaki, Eirene, Ridola, Vita, Rietman, Andre, Rosenbaum, Thorsten, Santhouse, Alastair, Sehested, Astrid, Simmons, Ian, Taal, Walter, Wagner, Anja, Carton, Charlotte, Evans, D. Gareth, Blanco, Ignacio, Friedrich, Reinhard E., Ferner, Rosalie E., Farschtschi, Said, Salvador, Hector, Azizi, Amedeo A., Mautner, Victor, Röhl, Claas, Peltonen, Sirkku, Stivaros, Stavros, Legius, Eric, Oostenbrink, Rianne

Source: In eClinicalMedicine February 2023 56

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Authors: Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., Vos, Janet R.

Source: In European Journal of Medical Genetics December 2022 65(12)

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Authors: Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, II, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Gomes, Alicia, Halliday, Dorothy, Helen Hanson Arvid Heiberg, Chris Hammond, Joly, Pascal, Jordan, Justin T., Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, Mallucci, Conor, Merker, Vanessa L., Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M., Wolkenstein, Pierre, Evans, D. Gareth

Source: In Genetics in Medicine September 2022 24(9):1967-1977

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Authors: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.

Source: In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691

Lessons learned from drug trials in neurofibromatosis: A systematic review

Authors: Dhaenens, Britt A.E., Ferner, Rosalie E., Evans, D. Gareth, Heimann, Guenter, Potratz, Cornelia, van de Ketterij, Edwin, Kaindl, Angela M., Hissink, Geesje, Carton, Charlotte, Bakker, Annette, Nievo, Marco, Legius, Eric, Oostenbrink, Rianne

Source: In European Journal of Medical Genetics September 2021 64(9)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Authors: Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, II, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

Source: In Genetics in Medicine August 2021 23(8):1506-1513

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

Authors: Lenaerts, Liesbeth, Brison, Nathalie, Maggen, Charlotte, Vancoillie, Leen, Che, Huiwen, Vandenberghe, Peter, Dierickx, Daan, Michaux, Lucienne, Dewaele, Barbara, Neven, Patrick, Floris, Giuseppe, Tousseyn, Thomas, Lannoo, Lore, Jatsenko, Tatjana, Bempt, Isabelle Vanden, Van Calsteren, Kristel, Vandecaveye, Vincent, Dehaspe, Luc, Devriendt, Koenraad, Legius, Eric, Bogaert, Kris Van Den, Vermeesch, Joris Robert, Amant, Frédéric

Source: In EClinicalMedicine May 2021 35

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor

Authors: Vanden Bempt, Isabelle, Vander Borght, Sara, Sciot, Raf, Spans, Lien, Claerhout, Sofie, Brems, Hilde, Lehnert, Stefan, Dehaspe, Luc, Fransis, Sabine, Neuville, Bart, Topal, Baki, Schöffski, Patrick, Legius, Eric, Debiec‐Rychter, Maria

Source: Genes, chromosomes & cancer. 60(4):239-249

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116944202.0x000001&indx=1&recIds=ETOCvdc_100116944202.0x000001

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

Authors: Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc

Source: Clinical Genetics; Nov2024, Vol. 106 Issue 5, p574-584, 11p

Subject Terms: SLEEP disorders, SLEEP interruptions, ALTERNATIVE RNA splicing, ATTENTION-deficit hyperactivity disorder, AUTISM spectrum disorders

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Authors: Lovatt, Charlotte, Williams, Megan, Gibbs, Alex, Mukhtar, Abdullahi, Morgan, Huw J., Lanfredini, Simone, Olivero, Carlotta, Spurlock, Gill, Davies, Sally, Philpott, Charlotte, Tovell, Hannah, Turnpenny, Peter, Baban, Dilair, Knight, Sam, Brems, Hilde, Sampson, Julian R., Legius, Eric, Upadhyaya, Meena, Patel, Girish K.

Source: Skin Health & Disease; Oct2024, Vol. 4 Issue 5, p1-11, 11p

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Authors: Ottenhoff, Myrthe J., Rietman, André B., Mous, Sabine E., Plasschaert, Ellen, Gawehns, Daniela, Brems, Hilde, Oostenbrink, Rianne, van Minkelen, Rick, Nellist, Mark, Schorry, Elizabeth, Legius, Eric, Moll, Henriette A., Elgersma, Ype, de Wit, Marie-Claire Y., de Nijs, Pieter F.A., Legerstee, Jeroen S., Dieleman, Gwendolyn C., ten Hoopen, Leontine W.

Source: In Genetics in Medicine May 2020 22(5):889-897

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Authors: Che, Huiwen, Villela, Darine, Dimitriadou, Eftychia, Melotte, Cindy, Brison, Nathalie, Neofytou, Maria, Van Den Bogaert, Kris, Tsuiko, Olga, Devriendt, Koen, Legius, Eric, Esteki, Masoud Zamani, Voet, Thierry, Vermeesch, Joris Robert

Source: In Genetics in Medicine May 2020 22(5):962-973

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

Authors: Rinaldi, Berardo, Race, Valerie, Corveleyn, Anniek, Van Hoof, Evelien, Bauters, Marijke, Van Den Bogaert, Kris, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Baldewijns, Marcella, Aertsen, Michael, Lewi, Liesbeth, De Catte, Luc, Breckpot, Jeroen, Devriendt, Koenraad

Source: In European Journal of Medical Genetics May 2020 63(5)

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Authors: Konrad, Enrico D.H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C.J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane

Source: In Genetics in Medicine December 2019 21(12):2723-2733

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Authors: Brison, Nathalie, Storms, Jazz, Villela, Darine, Claeys, Kristl G., Dehaspe, Luc, de Ravel, Thomy, De Waele, Liesbeth, Goemans, Nathalie, Legius, Eric, Peeters, Hilde, Van Esch, Hilde, Race, Valerie, Robert Vermeesch, Joris, Devriendt, Koenraad, Van Den Bogaert, Kris

Source: In Genetics in Medicine December 2019 21(12):2774-2780