CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability by Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.

Get full text

E-POSTERS – EARLY ONSET MUSCLE DISEASE – CASE REPORTS: EP.120ADSSL1 distal myopathy presenting with a more rapid progressive course in patient with trisomy 21 by Medne, L., Santi, M., Skraban, C., Berkowitz, J., Brandsema, J., Dechene, E., Denenberg, E., Bonnemann, C., Santani, A., Banwell, B.

Get full text

E-POSTERS – EARLY ONSET MUSCLE DISEASE – CASE REPORTS by Medne, L., Santi, M., Skraban, C., Berkowitz, J., Brandsema, J., Dechene, E., Denenberg, E., Bonnemann, C., Santani, A., Banwell, B.

Get full text

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder by Iwata-Otsubo, Aiko, Skraban, Cara M., Yoshimura, Atsunori, Sakata, Toyonori, Alves, Cesar Augusto P., Fiordaliso, Sarah K., Kuroda, Yukiko, Vengoechea, Jaime, Grochowsky, Angela, Ernste, Paige, Lulis, Lauren, Nesbitt, Addie, Tayoun, Ahmad Abou, Gray, Christopher, Towne, Meghan C., Radtke, Kelly, Normand, Elizabeth A., Rhodes, Lindsay, Seiler, Christoph, Shirahige, Katsuhiko, Izumi, Kosuke

Get full text

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution by Lalonde, Emilie, Rentas, Stefan, Lin, Fumin, Dulik, Matthew C., Skraban, Cara M., Spinner, Nancy B.

Get full text

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder by Srivastava, Siddharth, Macke, Erica L, Swanson, Lindsay C, Coulter, David, Klee, Eric W, Mullegama, Sureni V, Xie, Yili, Lanpher, Brendan C, Bedoukian, Emma C, Skraban, Cara M, Villard, Laurent, Milh, Mathieu, Leppert, Mary L O, Cohen, Julie S

Get full text

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes by Nomakuchi, Tomoki T., Teferedegn, Eden Y., Li, Dong, Muirhead, Kayla J., Dubbs, Holly, Leonard, Jacqueline, Muraresku, Colleen, Sergio, Emily, Arnold, Kaley, Pizzino, Amy, Skraban, Cara M., Zackai, Elaine H., Wang, Kai, Ganetzky, Rebecca D., Vanderver, Adeline L., Ahrens‐Nicklas, Rebecca C., Bhoj, Elizabeth J. K.

Get full text

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies by Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.

Get full text

genome-wide association study identifies KIAA0350 as a type 1 diabetes gene by HAKONARSON, Hakon, GRANT, Struan F. A, LAWSON, Margaret L, ROBINSON, Luke J, SKRABAN, Robert, YANG LU, CHIAVACCI, Rosetta M, STANLEY, Charles A, KIRSCH, Susan E, RAPPAPORT, Eric F, ORANGE, Jordan S, MONOS, Dimitri S, BRADFIELD, Jonathan P, DEVOTO, Marcella, QU, Hui-Qi, POLYCHRONAKOS, Constantin, MARCHAND, Luc, KIM, Cecilia E, GLESSNER, Joseph T, GRABS, Rosemarie, CASALUNOVO, Tracy, TABACK, Shayne P, FRACKELTON, Edward C

Get full text

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 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.

Get full text

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development by Izumi, Kosuke, Ganetzky, Rebecca D., Wertheim, Gerald B.W., Skraban, Cara M., Bedoukian, Emma C., Wilkens, Alisha, Fincher, Christopher, Thomas, Nina H., Ginsberg, Jill P., Rheingold, Susan R., Conlin, Laura K., Deardorff, Matthew A.

Get full text

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy by Keisling, Julia, Bedoukian, Emma, Burstein, Danielle S., Gaynor, J. William, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Leonard, Jacqueline, Lin, Kimberly Y., Medne, Livija, Seymour, Christine, Skraban, Cara, Rippert, Alyssa L., Ahrens-Nicklas, Rebecca C.

Get full text

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications by Shaikh, Tamim H, Gai, Xiaowu, Perin, Juan C, Glessner, Joseph T, Xie, Hongbo, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K, D'Arcy, Monica, Frackelton, Edward C, Geiger, Elizabeth A, Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E, Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P, Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C, Ostapenko, Svetlana, Otieno, F George, Santa, Erin, Shaner, Julie L, Skraban, Robert, Smith, Ryan M, Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B, Zackai, Elaine H, Chiavacci, Rosetta M, Grundmeier, Robert, Rappaport, Eric F, Grant, Struan F A, White, Peter S, Hakonarson, Hakon

Get full text

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders by Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza

Get full text

Expanding the reproductive organ phenotype of CHD7‐spectrum disorder by Nomakuchi, Tomoki T., Danowitz, Melinda, Stewart, Blythe, Leonard, Jacqueline, Izumi, Kosuke, Krantz, Ian, Kolon, Thomas F., Langdon, David, Skraban, Cara, Van Batavia, Jason, Zackai, Elaine, Jiao, Kai, Linn, Rebecca, Alexander, Caitlin, Zaontz, Mark, Vogiatzi, Maria G., Pyle, Louise C.

Get full text

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study by Tan, Queenie K-G, McConkie-Rosell, Allyn, Mahoney, Rachel, Spillmann, Rebecca C, Schoch, Kelly, Chanprasert, Sirisak, Acosta, Maria T, Toro, Camilo, Rosenfeld, Jill A, Orengo, James P, Scott, Daryl A, Granadillo, Jorge L, Sisco, Kathleen, Wegner, Daniel J, Tekin, Mustafa, Bivona, Stephanie, Peart, LéShon, Rodan, Lance, Bonner, Devon, Wheeler, Matthew T, Bernstein, Jonathan A, Ruzhnikov, Maura, Adams, David R, Hisama, Fuki M, Shashi, Vandana

Get full text

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant by Bedoukian, Emma C., Rentas, Stefan, Skraban, Cara, Shao, Qing, Treat, James, Laird, Dale W., Sullivan, Kathleen E.

Get full text

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability by Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

Get full text

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

Get full text

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital by Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke

Get full text