P601: Fetal genome sequencing for multiple congenital anomalies identifies a likely pathogenic variant in the CHD2 Gene: A case report von Bookbinder, Samantha, Champaigne, Neena, Babb, Paige

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A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus von Diets, Illja J., Prescott, Trine, Champaigne, Neena L., Mancini, Grazia M. S., Krossnes, Bård, Frič, Radek, Kocsis, Kristina, Jongmans, Marjolijn C. J., Kleefstra, Tjitske

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3-Methylglutaconic aciduria in carriers of primary carnitine deficiency von Ziats, Catherine A., Burns, William B., Tedder, Matt L., Pollard, Laura, Wood, Tim, Champaigne, Neena L.

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency von Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.

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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant von Chatron, Nicolas, Møller, Rikke S., Champaigne, Neena L., Schneider, Amy L., Kuechler, Alma, Labalme, Audrey, Simonet, Thomas, Baggett, Lauren, Bardel, Claire, Kamsteeg, Erik‐Jan, Pfundt, Rolph, Romano, Corrado, Aronsson, Johan, Alberti, Antonino, Vinci, Mirella, Miranda, Maria J., Lacroix, Amy, Marjanovic, Dragan, des Portes, Vincent, Edery, Patrick, Wieczorek, Dagmar, Gardella, Elena, Scheffer, Ingrid E., Mefford, Heather, Sanlaville, Damien, Carvill, Gemma L., Lesca, Gaetan

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Newborn screening for Pompe disease in South Carolina: Outcomes of early detection for late-onset Pompe disease phenotypes von Buch, Laura D., Champaigne, Neena L.

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New observation of sialuria prompts detection of liver tumor in previously reported patient von Champaigne, Neena L., Leroy, Jules G., Kishnani, Priya S., Decaestecker, Jochen, Steenkiste, Edwin, Chaubey, Alka, Li, Jiarui, Verslype, Chris, Van Dorpe, Jo, Pollard, Laura, Goldstein, Jennifer L., Libbrecht, Louis, Basehore, Monica, Chen, Nansheng, Hu, Heping, Wood, Tim, Friez, Michael J., Huizing, Marjan, Stevenson, Roger E.

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Long-term observation of a patient with dominant omodysplasia von Gordon, Barbara L., Champaigne, Neena L., Rogers, R. Curtis, Frias, Jaime L., Leroy, Jules G.

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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations von Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria von Biesecker, Leslie G, Sloan, Jennifer L, Johnston, Jennifer J, Manoli, Irini, Chandler, Randy J, Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D, Sysol, Justin R, O'Brien, Kevin, Hauser, Natalie S, Sapp, Julie C, Dorward, Heidi M, Huizing, Marjan, Barshop, Bruce A, Berry, Susan A, James, Philip M, Champaigne, Neena L, de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D, Gavrilov, Dimitar K, Nyhan, William L, Venditti, Charles P

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P601: Fetal genome sequencing for multiple congenital anomalies identifies a likely pathogenic variant in the CHD2Gene: A case report von Bookbinder, Samantha, Champaigne, Neena, Babb, Paige

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Clinical utility of the X-chromosome array von Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, M. Allison, Cathey, Sara S., Champaigne, Neena L., Clarkson, L. Kate, DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, R. Curtis, Saul, Robert A., Schroer, Richard J., Skinner, Steven A., Stevenson, Roger E.

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Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents von Wells, Amy Stanford, Northrup, Hope, Crandell, Sharon S, King, Terri M, Champaigne, Neena L, Yafi, Michael, Therrell, Bradford L, Noblin, Sarah Jane

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Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux von Champaigne, Neena L., Laird, Nicole A., Northup, Jill K., Velagaleti, Gopalrao V.N.

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eP376 - 1q21.1 deletion size and associated clinical presentations von Wang, Jiyong, Hamid, Rasikh, Lyons, Michael, Champaigne, Neena, Eloise, Prijoles, Everman, David, Rogers, Curtis, Stolerman, Elliot, Clarkson, Katie, Cathey, Sara, Hilton, Benjamin, DuPont, Barbara

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1q21.1 deletion size and associated clinical presentations von Wang, Jiyong, Hamid, Rasikh, Lyons, Michael, Champaigne, Neena, Eloise, Prijoles, Everman, David, Rogers, Curtis, Stolerman, Elliot, Clarkson, Katie, Cathey, Sara, Hilton, Benjamin, DuPont, Barbara

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New observation of sialuria prompts detection of liver tumor in previously reported patient von Champaigne, Neena L, Leroy, Jules G, Kishnani, Priya S, Decaestecker, Jochen, Steenkiste, Edwin, Chaubey, Alka, Li, Jiarui, Verslype, Chris, Van Dorpe, Jo, Pollard, Laura, Goldstein, Jennifer L, Libbrecht, Louis, Basehore, Monica, Chen, Nansheng, Hu, Heping, Wood, Tim, Friez, Michael J, Huizing, Marjan, Stevenson, Roger E

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Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report von De Biase, Irene, Champaigne, Neena Lorenzana, Schroer, Richard, Pollard, Laura Malinda, Longo, Nicola, Wood, Tim

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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations von Warren, Hannah E, Louie, Raymond J, Friez, Michael J, Frías, Jaime L, Leroy, Jules G, Spranger, Jürgen W, Skinner, Steven A, Champaigne, Neena L

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Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux von Champaigne, Neena L., Laird, Nicole A., Northup, Jill K., Velagaleti, Gopalrao V.N.

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