Rezultaty - Schnur, Rhonda

Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. od Sommer, Lacy L., Schnur, Rhonda E., Heymann, Warren R.

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Delayed Diagnosis in a House of Correction: Smith–Magenis Syndrome Due to a De Novo Nonsense RAI1 Variant od Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.

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Normal Tissue Depresses While Tumor Tissue Enhances Human T Cell Responses In Vivo to a Novel Self/Tumor Melanoma Antigen, OA1 od Touloukian, Christopher E., Leitner, Wolfgang W., Schnur, Rhonda E., Robbins, Paul F., Li, Yong, Southwood, Scott, Sette, Alessandro, Rosenberg, Steven A., Restifo, Nicholas P.

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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies od Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome od Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.

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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder od Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta

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Variants in DOCK3 cause developmental delay and hypotonia od Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W., Zimmerman, Michael T., Cousin, Margot A., Kempainen, Jennifer L., Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A., Aarts-Tesselaar, Coranne D., Schnur, Rhonda E., Andrews, Marisa, Shinawi, Marwan

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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities od Snijders Blok, Lot, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiago-Sim, Teresa, Si, Yue, Brunner, Han G., Kleefstra, Tjitske, Fisher, Simon E.

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Epimerase-Deficiency Galactosemia Is Not a Binary Condition od Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism od Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.

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Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements od Abdelmoumen, Imane, Jimenez, Sandra, Valencia, Ignacio, Melvin, Joseph, Legido, Agustin, Diaz-Diaz, Mayela M., Griffith, Christopher, Massingham, Lauren J., Yelton, Melissa, Rodríguez-Hernández, Janice, Schnur, Rhonda E., Walsh, Laurence E., Cristancho, Ana G., Bergqvist, Christina A., McWalter, Kirsty, Mathieson, Iain, Belbin, Gillian M., Kenny, Eimear E., Ortiz-Gonzalez, Xilma R., Schneider, Michael C.

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De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease od Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy od Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions od Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy od Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly od Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

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Haploinsufficiency of SF3B2 causes craniofacial microsomia od Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.

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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability od Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M.M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M.J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K.L.I., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., Yang, Xiang-Jiao

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes od Curry, Cynthia J, Rosenfeld, Jill A, Grant, Erica, Gripp, Karen W, Anderson, Carol, Aylsworth, Arthur S, Ben Saad, Taha, Chizhikov, Victor V, Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata JM, Ozmore, Jillian R, Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E, Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J, Barkovich, A James, Aradhya, Swaroop, Shaffer, Lisa G, Dobyns, William B

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants od Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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