Kết quả tìm kiếm - Kohler, Jennefer

Personal utility in genomic testing: a systematic literature review Bằng Kohler, Jennefer N, Turbitt, Erin, Biesecker, Barbara B

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Perceived utility and disutility of genomic sequencing for pediatric patients: perspectives from parents with diverse sociodemographic characteristics Bằng Halley, Meghan C., Young, Jennifer L., Fernandez, Liliana, Kohler, Jennefer N., Bernstein, Jonathan A., Wheeler, Matthew T., Tabor, Holly K.

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“Doctors can read about it, they can know about it, but they’ve never lived with it”: How parents use social media throughout the diagnostic odyssey Bằng Deuitch, Natalie, Beckman, Erika, Halley, Meghan C., Young, Jennifer L., Reuter, Chloe M., Kohler, Jennefer, Bernstein, Jonathan A., Wheeler, Matthew T., Ormond, Kelly E., Tabor, Holly K.

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Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students Bằng Grove, Megan E., White, Shana, Fisk, Dianna G., Rego, Shannon, Dagan-Rosenfeld, Orit, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Bernstein, Jonathan A., Ormond, Kelly E., Hanson-Kahn, Andrea K.

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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype Bằng Zastrow, Diane B., Zornio, Patricia A., Dries, Annika, Kohler, Jennefer, Fernandez, Liliana, Waggott, Daryl, Walkiewicz, Magdalena, Eng, Christine M., Manning, Melanie A., Farrelly, Ellyn, Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.

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A Patient with Sjogren’s Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis Bằng Hom, Jason, Marwaha, Shruti, Postolova, Anna, Kittle, Jessie, Vasquez, Rosaline, Davidson, Jean, Kohler, Jennefer, Dries, Annika, Fernandez-Betancourt, Liliana, Majcherska, Marta, Dearlove, Joanna, Raghavan, Shyam, Vogel, Hannes, Bernstein, Jonathan A., Fisher, Paul, Ashley, Euan, Sampson, Jacinda, Wheeler, Matthew

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A Toolkit for Genetics Providers in Follow-up of Patients with Non-Diagnostic Exome Sequencing Bằng Zastrow, Diane B., Kohler, Jennefer N., Bonner, Devon, Reuter, Chloe M., Fernandez, Liliana, Grove, Megan E., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Ward, Patricia A., Bick, David, Worthey, Elizabeth A., Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis Bằng 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

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Extracutaneous Manifestations in Phacomatosis Cesioflammea and Cesiomarmorata: Case Series and Literature Review Bằng Kumar, Akash, Zastrow, Diane B, Kravets, Elijah J, Beleford, Daniah, Ruzhnikov, Maura RZ, Grove, Megan E., Dries, Annika M., Kohler, Jennefer N., Waggott, Daryl M., Yang, Yaping, Huang, Yong, Mackenzie, Katherine M., Eng, Christine M., Fisher, Paul G., Ashley, Euan A, Teng, Joyce M., Stevenson, David A., Shieh, Joseph T., Wheeler, Matthew T., Bernstein, Jonathan A.

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Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing Bằng Reuter, Chloe M., Kohler, Jennefer N., Bonner, Devon, Zastrow, Diane, Fernandez, Liliana, Dries, Annika, Marwaha, Shruti, Davidson, Jean, Brokamp, Elly, Herzog, Matthew, Hong, Joyce, Macnamara, Ellen, Rosenfeld, Jill A., Schoch, Kelly, Spillmann, Rebecca, Loscalzo, Joseph, Krier, Joel, Stoler, Joan, Sweetser, David, Palmer, Christina G.S., Phillips, John A, Shashi, Vandana, Adams, David A., Yang, Yaping, Ashley, Euan A., Fisher, Paul G., Mulvihill, John J., Bernstein, Jonathan A., Wheeler, Matthew T.

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Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science Bằng Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana

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Dynamic landscape and regulation of RNA editing in mammals Bằng Tan, Meng How, Li, Qin, Shanmugam, Raghuvaran, Piskol, Robert, Kohler, Jennefer, Young, Amy N., Liu, Kaiwen Ivy, Zhang, Rui, Ramaswami, Gokul, Ariyoshi, Kentaro, Gupte, Ankita, Keegan, Liam P., George, Cyril X., Ramu, Avinash, Huang, Ni, Pollina, Elizabeth A., Leeman, Dena S., Rustighi, Alessandra, Sharon Goh, Y. P., Chawla, Ajay, Del Sal, Giannino, Peltz, Gary, Brunet, Anne, Conrad, Donald F., Samuel, Charles E., O’Connell, Mary A., Walkley, Carl R., Nishikura, Kazuko, Li, Jin Billy

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Genotype–phenotype correlations in individuals with pathogenic RERE variants Bằng Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts Bằng Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME Bằng Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder Bằng Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Waters, Katrina M., Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Yamamoto, Shinya, Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions Bằng Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary-Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Mercedes Villanueva, María, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases Bằng Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder Bằng Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.

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