檢索結果 - Signer, Rebecca

Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males 由 Mullegama, Sureni V., Klein, Steven D., Signer, Rebecca H., Vilain, Eric, Martinez‐Agosto, Julian A.

獲取全文 獲取全文 獲取全文

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing 由 Woods, Jeremy D., Khanlou, Negar, Lee, Hane, Signer, Rebecca, Shieh, Perry, Chen, Johnathan, Herzog, Matthew, Palmer, Christina, Martinez‐Agosto, Julian, Nelson, Stanley F.

獲取全文 獲取全文 獲取全文

Cases from the Undiagnosed Diseases Network: The Continued Value of Counseling Skills in a New Genomic Era 由 Macnamara, Ellen F., Schoch, Kelly, Kelley, Emily G., Fieg, Elizabeth, Brokamp, Elly, Signer, Rebecca, LeBlanc, Kimberly, McConkie-Rosell, Allyn, Palmer, Christina G.S.

獲取全文 獲取全文 獲取全文

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes 由 Wang, Zishan, Fan, Xiao, Shen, Yufeng, Pagadala, Meghana S, Signer, Rebecca, Cygan, Kamil J., Fairbrother, William G., Carter, Hannah, Chung, Wendy K., Huang, Kuan-lin

獲取全文 獲取全文 獲取全文

An expansion of NEUROD2 phenotypes to include developmental delay without seizures 由 Mis, Emily K., Sega, Annalisa G., Signer, Rebecca H., Cartwright, Tracy, Ji, Weizhen, Martinez-Agosto, Julian A., Nelson, Stanley F., Palmer, Christina G. S., Lee, Hane, Mitzelfelt, Thomas, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K., Marco, Elysa, Martin, Martin G., Lakhani, Saquib A.

獲取全文 獲取全文 獲取全文

Novel NUDT2 variant causes intellectual disability and polyneuropathy 由 Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.

獲取全文 獲取全文 獲取全文

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis 由 Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cope, Heidi, Signer, Rebecca, Martinez-Agosto, Julian A., Shashi, Vandana, Beggs, Alan H., Wheeler, Matthew T., Bernstein, Jonathan A., Bejerano, Gill

獲取全文 獲取全文 獲取全文

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network 由 Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Glanton, Emily, Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana

獲取全文 獲取全文 獲取全文

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain 由 Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiß, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P.

獲取全文 獲取全文 獲取全文

Phenotype Delineation of ZNF462 related syndrome 由 Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

獲取全文 獲取全文 獲取全文

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases 由 Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Asher, Y. Jane Tavyev, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina G. S., Martinez-Agosto, Julian A., Nelson, Stanley F.

獲取全文 獲取全文 獲取全文

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 由 Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

獲取全文 獲取全文 獲取全文

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 由 Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d’Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A

獲取全文 獲取全文 獲取全文