Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

por Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.
Publicado 2017

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability

por Hudac, Caitlin M., Friedman, Nicole R., Ward, Victoria R., Estreicher, Rachel E., Dorsey, Grace C., Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Eichler, Evan E., Neuhaus, Emily
Publicado 2023

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

por Coll-Tané, Mireia, Gong, Naihua N., Belfer, Samuel J., van Renssen, Lara V., Kurtz-Nelson, Evangeline C., Szuperak, Milan, Eidhof, Ilse, van Reijmersdal, Boyd, Terwindt, Isabel, Durkin, Jaclyn, Verheij, Michel M. M., Kim, Chang N., Hudac, Caitlin M., Nowakowski, Tomasz J., Bernier, Raphael A., Pillen, Sigrid, Earl, Rachel K., Eichler, Evan E., Kleefstra, Tjitske, Kayser, Matthew S., Schenck, Annette
Publicado 2021

The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification

por McPartland, James C., Bernier, Raphael A., Jeste, Shafali S., Dawson, Geraldine, Nelson, Charles A., Chawarska, Katarzyna, Earl, Rachel, Faja, Susan, Johnson, Scott P., Sikich, Linmarie, Brandt, Cynthia A., Dziura, James D., Rozenblit, Leon, Hellemann, Gerhard, Levin, April R., Murias, Michael, Naples, Adam J., Platt, Michael L., Sabatos-DeVito, Maura, Shic, Frederick, Senturk, Damla, Sugar, Catherine A., Webb, Sara J.
Publicado 2020

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

por Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A., Earl, Rachel K., Kurtz-Nelson, Evangeline C., Idleburg, Michaela J., Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D., Ramos, Luiza L.P., Santos, Mara Lucia S.F., Martin, Donna M., Brooks, Dan, Symonds, Joseph D., Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E., Xia, Kun, Guo, Hui
Publicado 2022

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

por Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun (Helen), Swoboda, Kathryn J., Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G., Morrow, Michelle M., Eichler, Evan E., Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui
Publicado 2022

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

por Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.
Publicado 2020

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

por Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.
Publicado 2020

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