The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development by Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha

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P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU by Bier, Caide, Dickey, Kaelin, Andersson, Hans, McNutt, Markey, Vice, Danielle, Cooney, Erin, Morand, Megan, Ray, Joseph, Sponberg, Rebecca, Chang, Richard, Boyer, Monica, Bibb, Brittan, Crutcher, Angela, Lah, Melissa, Davis-Keppen, Laura, Matthes, Cindy

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Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion by Somsen, David, Davis-Keppen, Laura, Crotwell, Patricia, Flanagan, Jason, Munson, Patrick, Stein, Quinn

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Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency by Kruer, Michael C., Jepperson, Tyler N., Weimer, Jill M., Mroch, Amy, Davis-Keppen, Laura, Crotwell, Patricia, Parboosingh, Jillian

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An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC) by Stein, Quinn P., Vockley, Cate Walsh, Edick, Mathew J., Zhai, Shaohui, Hiner, Sally J., Loman, Rebecca S., Davis-Keppen, Laura, Zuck, Taylor A., Cameron, Cynthia A., Berry, Susan A.

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern by Stein, Quinn P., Boyle, Jeffrey G., Crotwell, Patricia L., Flanagan, Jason D., Johnson, Kiley J., Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R., Watson, William J.

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Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series by Cooney, Erin, Ammous, Zineb, Andersson, Hans, Bender, Tricia, Clague, Gillian, Clifford, Marilyn, Crutcher, Angela, Davis-Keppen, Laura, Havens, Kirsten, Lah, Melissa, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Vucko, Erika, Wardley, Bridget, Wessenberg, Leah

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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females by Bier, Caide, Dickey, Kaelin, Bibb, Brittan, Crutcher, Angela, Sponberg, Rebecca, Chang, Richard, Boyer, Monica, Davis-Keppen, Laura, Matthes, Cindy, Tharp, Michelle, Vice, Danielle, Cooney, Erin, Morand, Megan, Ray, Joseph, Lah, Melissa, McNutt, Markey, Andersson, Hans C.

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Multiple molecular diagnoses in individual patients identified through whole genome sequencing by Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan

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eP238 - Multiple molecular diagnoses in individual patients identified through whole genome sequencing by Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan

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Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families by Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L, Flanagan, Sarah E, Edghill, Emma L, Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R, Jefferson, Ian G, Mutair, Angham, Hattersley, Andrew T, Ellard, Sian

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing by Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

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Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6 by Masotti, Andrea, Uva, Paolo, Davis-Keppen, Laura, Basel-Vanagaite, Lina, Cohen, Lior, Pisaneschi, Elisa, Celluzzi, Antonella, Bencivenga, Paola, Fang, Mingyan, Tian, Mingyu, Xu, Xun, Cappa, Marco, Dallapiccola, Bruno

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Novel variants identified in CKAP2L in two siblings with Filippi syndrome by Patrick, Ryan J, Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience by Longo, Nicola, Arnold, Georgianne L., Pridjian, Gabriella, Enns, Gregory M., Ficicioglu, Can, Parker, Susan, Cohen-Pfeffer, Jessica L.

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Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97kb Xp22.2 microdeletion by Somsen, David, Davis-Keppen, Laura, Crotwell, Patricia, Flanagan, Jason, Munson, Patrick, Stein, Quinn

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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures by Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, Richard, Liu, Shuxi, Weiss, Marjan

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder by Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative by Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A., Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui

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