Genome Sequencing for Diagnosing Rare Diseases
Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne
Published in The New England journal of medicine (06.06.2024)
Published in The New England journal of medicine (06.06.2024)
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Journal Article
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.
Published in Genetics in medicine (17.07.2024)
Published in Genetics in medicine (17.07.2024)
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Journal Article
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens, Julie A, Barry, Brenda J, Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C, Matos Ruiz, Paola M, Pratt, Brandon M, England, Eleina M, Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A, Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S, Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M, Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R, Foster, Emma E, Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M, Sanchis-Juan, Alba, Fu, Jack M, Wong, Isaac, Zhao, Xuefang, Wilson, Michael W, Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E, MacArthur, Daniel G, O'Donnell-Luria, Anne, Robson, Caroline D, Hunter, David G, Engle, Elizabeth C
Published in medRxiv : the preprint server for health sciences (26.03.2024)
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Published in medRxiv : the preprint server for health sciences (26.03.2024)
Journal Article
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Wojcik, Monica H, Lemire, Gabrielle, Zaki, Maha S, Wissman, Mariel, Win, Wathone, White, Sue, Weisburd, Ben, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gazda, Hanna T, Ganesh, Vijay S, Ganapathy, Mythily, Gallacher, Lyndon, Fu, Jack, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bonnemann, Carsten, Beggs, Alan H, Baxter, Samantha M, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Chrissy, Rehm, Heidi L, O'Donnell-Luria, Anne
Published in medRxiv : the preprint server for health sciences (13.08.2023)
Published in medRxiv : the preprint server for health sciences (13.08.2023)
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Journal Article