Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome von Berry-Kravis, Elizabeth M., Lindemann, Lothar, Jønch, Aia E., Apostol, George, Bear, Mark F., Carpenter, Randall L., Crawley, Jacqueline N., Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gasparini, Fabrizio, Gomez-Mancilla, Baltazar, Hessl, David, Loth, Eva, Scharf, Sebastian H., Wang, Paul P., Von Raison, Florian, Hagerman, Randi, Spooren, Will, Jacquemont, Sébastien

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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome von Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia

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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome von Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia

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Emerging topics in FXTAS von Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O'Keefe, Joanne, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A

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Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus von Jønch, Aia E., Larsen, Lise G., Pouplier, Susanne, Nielsen, Kate, Brøndum‐Nielsen, Karen, Tümer, Zeynep

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C, Machal, Erik M.F, Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Hul, Wim Van, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S, Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F, Schneider, Amy L, Scheffer, Ingrid E, Kibaek, Maria, Kristiansen, Britta S, Issa, Mahmoud Y, Mehrez, Mennat, Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skalhegg, Bjorn Steen, Otaify, Ghada A, Temtamy, Samia, Aglan, Mona, Jonch, Aia E, De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valerie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W, Taylor, Susan S, Ruiz-Perez, Victor L

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B. M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

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Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy von Jønch, Aia Elise, Danielsen, Else Rubæk, Thomsen, Carsten, Meden, Per, Svenstrup, Kirsten, Nielsen, Jørgen Erik

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D'Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J R A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier

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Erratum: Emerging topics in FXTAS von Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O'Keefe, Joan A, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A

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Erratum: Emerging topics in FXTAS von Hall, Deborah A, Hall, Deborah A, Birch, Rachael C, Birch, Rachael C, Anheim, Mathieu, Anheim, Mathieu, Jønch, Aia E, Jønch, Aia E, Pintado, Elizabeth, Pintado, Elizabeth, O’Keefe, Joan A, Trollor, Julian N, Trollor, Julian N, Stebbins, Glenn T, Stebbins, Glenn T, Hagerman, Randi J, Hagerman, Randi J, Fahn, Stanley, Fahn, Stanley, Berry-Kravis, Elizabeth, Berry-Kravis, Elizabeth, Leehey, Maureen A, Leehey, Maureen A

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Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus von Jønch, Aia E., Larsen, Lise G., Pouplier, Susanne, Nielsen, Kate, Brøndum-Nielsen, Karen, Tümer, Zeynep

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