by Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Published in The Journal of molecular diagnostics : JMD (01.01.2019)

by Samuels, Benjamin A, Leonardo, E David, Dranovsky, Alex, Williams, Amanda, Wong, Erik, Nesbitt, Addie May I, McCurdy, Richard D, Hen, Rene, Alter, Mark
Published in PloS one (17.01.2014)

by Leung, Marco L., McAdoo, Sallie, Watson, Deborah, Stumm, Kallyn, Harr, Margaret, Wang, Xiang, Chung, Christine H., Mafra, Fernanda, Nesbitt, Addie I., Hakonarson, Hakon, Santani, Avni
Published in The Journal of molecular diagnostics : JMD (01.01.2021)

by Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Published in American journal of human genetics (06.07.2017)

by Nesbitt, Addie May I, McCurdy, Richard D, Bryant, Sharell M, Alter, Mark D
Published in PloS one (02.05.2014)

by Buchert, Rebecca, Nesbitt, Addie I, Tawamie, Hasan, Krantz, Ian D, Medne, Livija, Helbig, Ingo, Matalon, Dena R, Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami
Published in Orphanet journal of rare diseases (29.09.2016)

by Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., Moufawad El Achkar, Christelle, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., Fransen van de Putte, Dietje E., Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke, Brunner, Han G., Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Published in American journal of human genetics (03.05.2018)

by Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., Fransen van de Putte, Dietje E., Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frédéric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke, Brunner, Han G., Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Published in American journal of human genetics (04.10.2018)

by Murrell, Jill R, Nesbitt, Addie May I, Baker, Samuel W, Pechter, Kieran B, Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H, DeChene, Elizabeth T, Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D, Dulik, Matthew C, Conlin, Laura K, Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H, Bedoukian, Emma C, Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M, Deardorff, Matthew A, Medne, Livija, Krantz, Ian D, Krock, Bryan L, Santani, Avni B
Published in The Journal of molecular diagnostics : JMD (01.03.2022)

by Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra
Published in American journal of human genetics (02.11.2017)

by Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
Published in American journal of human genetics (02.08.2018)

by Hu, Jianhong, Korchina, Viktoriya, Zouk, Hana, Harden, Maegan V, Murdock, David, Macbeth, Alyssa, Harrison, Steven M, Lennon, Niall, Kovar, Christie, Balasubramanian, Adithya, Zhang, Lan, Chandanavelli, Gauthami, Pasham, Divya, Rowley, Robb, Wiley, Ken, Smith, Maureen E, Gordon, Adam, Jarvik, Gail P, Sleiman, Patrick, Kelly, Melissa A, Bland, Harris T, Murugan, Mullai, Venner, Eric, Boerwinkle, Eric, Prows, Cynthia, Mahanta, Lisa, Rehm, Heidi L, Gibbs, Richard A, Muzny, Donna M
Published in BMC research notes (03.03.2024)

by Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan J., Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L, Deardorff, Matthew A., Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S., Dabir, Tabib, Lunde Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Diseases Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Hugo, Gem, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle
Published in American journal of human genetics (01.11.2017)

by Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Published in The Journal of molecular diagnostics : JMD (01.03.2022)