Treffer 1 - 20 von 20 für Suche 'MARTHA ASHLEY CLARK', Suchdauer: 1,67s Treffer weiter einschränken
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    Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy von McNamee, Lucy, Huang, Alden, Wang, Lee‐kai, Buckley, Anne F., Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Borja, Nicholas, Briere, Lauren C., Callaway, Kaitlin, Chanprasert, Sirisak, Coggins, Matthew, Craigen, William J., Cuddapah, Vishnu, Darr, Kahlen, Dipple, Katrina, Doherty, Daniel, Douglas, Jessica, Emrick, Lisa T., Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Hing, Anne, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Karasozen, Yigit, Ketkar, Shamika, Kilich, Gonench, Klee, Eric, Kohler, Jennefer N., Korrick, Susan, Kravets, Elijah, Lalani, Seema R., Latchman, Kumarie, LeBlanc, Kimberly, Liu, Pengfei, Longo, Nicola, MacRae, Calum A., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Martin, Beth A., Miller, Danny, Moretti, Paolo, Mulvihill, Lindsay, Neumann, Serena, Novacic, Donna, Orengo, James P., Pace, Laura, Pak, Stephen, Parker, Neil H., Pinto e Vairo, Filippo, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rosenfeld, Jill A., Ruzhnikov, Maura, Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Skelton, Tammi, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tan, Queenie, Tan, Amelia L. M., Tifft, Cynthia J., Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wood, Heidi, Worley, Kim


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    Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant von Gulsevin, Alican, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Adams, David R., Afzali, Ben, Andrews, Ashley, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Butte, Manish J., Byrd, William E., Callaway, Kaitlin, Carvalho, George, Chanprasert, Sirisak, Chinn, Ivan, Clark, Gary D., Cogan, Joy D., Coggins, Matthew, Corner, Brian, Dipple, Katrina, Doherty, Daniel, Douglas, Jessica, Emrick, Lisa T., Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Hing, Anne, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Kaitryn, Emerald, Kanca, Oguz, Kohler, Jennefer N., Krakow, Deborah, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Mahoney, Rachel, Marth, Gabor, McCray, Alexa T., Might, Matthew, Miller, Danny, Moretti, Paolo, Mulvihill, John J., Mulvihill, Lindsay, Neumann, Serena, Novacic, Donna, Orengo, James P., Pace, Laura, Pak, Stephen, Parker, Neil H., Pinto e Vairo, Filippo, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rosenfeld, Jill A., Ruzhnikov, Maura, Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Skelton, Tammi, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tan, Queenie, Tan, Amelia L. M., Tifft, Cynthia J., Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wood, Heidi, Worley, Kim


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    Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant von Stellacci, Emilia, Stevenson, David, Moslehi, Dorsa, Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Baldwin, Erin, Bale, Jim, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Corona, Rosario I., Cuddapah, Vishnu, D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Esteves, Cecilia, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Horike‐Pyne, Martha, Hurst, Anna, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Kanca, Oguz, Kiley, Dana, Korf, Bruce, Krakow, Deborah, Lam, Christina, Lee, Brendan H., Leppig, Kathleen A., Longo, Nicola, Macnamara, Ellen F., Mao, Rong, Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, McMinn, Ashley, Mikati, Mohamad, Mitchell, Breanna, Morimoto, Marie, Mulvihill, John J., Orengo, James P., Petcharet, Leoyklang, Phillips, John A., Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Rosenthal, Elizabeth, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Seto, Elaine, Shashi, Vandana, Sheppeard, Sam, Sirugo, Giorgio, Smith, Carson A., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Wahl, Colleen E., Walker, Melissa, Wegner, Daniel, Hubshman, Monika Weisz, Wheeler, Matthew T., Bernstein, Jonathan A.


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    De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities von Benke, Paul J., Emrick, Lisa, Fisher, Kristen, Adam, Margaret, Alvarez, Raquel L., Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chang, Ta Chen Peter, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Dell'Angelica, Esteban C., Dickson, Patricia, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Maghiro, Audrey Stephannie, Manolio, Teri A., Marwaha, Shruti, McConkie‐Rosell, Allyn, Mirzaa, Ghayda, Morava, Eva, Nicholas, Sarah K., Nickerson, Deborah, Pallais, J. Carl, Phillips, John A., Raskind, Wendy, Rosenfeld, Jill A., Rosenwasser, Natalie, Sampson, Jacinda B., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Solnica‐Krezel, Lilianna, Solomon, Ben, Sullivan, Kathleen, Sweetser, David A., Tan, Amelia L. M., Tarakad, Arjun, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Glaser, Kimberly, Murdock, David R., Rohena, Luis, Diderich, Karin E. M., Lee, Brendan


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    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Pena, Loren D.M., Hempel, Maja, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Shuss, Christine M., Burrage, Lindsay C., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Lalani, Seema R., Lewis, Richard A., Posey, Jennifer E., Hanchard, Neil A., Mercedes, Alejandro E., Wangler, Michael F., Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Goldstein, David B., Loscalzo, Joseph, Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Worthey, Elizabeth A., Lazar, Joe, Handley, Lori H., Newberry, J. Scott, Schroeder, Molly C., Brown, Donna M., Levy, Shawn E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Wise, Anastasia L., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Iglesias, Brenda, Martin, Casey, Koeller, David M., Ashley, Euan A., Zornio, Patricia A., Nelson, Stan F., Palmer, Christina G.S., Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Papp, Jeanette C., Dorrani, Naghmeh, Draper, David D., Estwick, Tyra, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Johnston, Jean M., Latham, Lea, Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., McCarty, Alexandra J., Murphy, Jennifer L., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Wahl, Colleen E., Weech, Alec A., Yu, Guoyun, Hamid, Rizwan, Bellet, Jane S., Keels, Martha Ann, El-Dairi, Maysantoine, Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Kurki, Mitja I., Hoischen, Alexander, Goldstein, David B.


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    Limitations of Conventional Magnetic Resonance Imaging as a Predictor of Death or Disability Following Neonatal Hypoxic–Ischemic Encephalopathy in the Late Hypothermia Trial von Laptook, Abbot R., Do, Barbara T., Hintz, Susan R., Pappas, Athina, Huitema, Carolyn, Pedroza, Claudia, Chaudhary, Aasma S., Das, Abhik, Watterberg, Kristi L., Poindexter, Brenda B., Caplan, Michael S., Alksninis, Barbara, Cashore, William, Caskey, Melinda, Gingras, Dan, Johnson, Katharine, Keszler, Mary Lenore, Knoll, Andrea M., Watson, Victoria E., Hibbs, Anna Maria, Newman, Nancy S., Bhola, Monika, Di Fiore, Juliann M., Friedman, Harriet G., Zadell, Arlene, Gauldin, Cheri, Holmes, Anne, Merhar, Stephanie, Fisher, Kimberley A., Grimes, Sandra, Finkle, Joanne, Goldstein, Ricki F., Gustafson, Kathryn E., Ashley, Patricia L., Bose, Carl L., Warner, Diane D., Aliaga, Sofia, Stoll, Barbara J., Mackie, Colleen, LaRossa, Maureen Mulligan, Carter, Sheena L., Higgins, Rosemary D., Archer, Stephanie Wilson, Dusick, Anna M., Gunn, Susan, Wilson, Leslie Dawn, Arldt-McAlister, Julie, Duncan, Andrea F., Evans, Patricia W., Jones, Patrick M., Martin, Sara C., McDavid, Georgia E., Jadcherla, Sudarshan R., Wallace, Dennis, Gantz, Marie G., O'Donnell Auman, Jeanette, Stevenson, David K., DeAnda, Maria Elena, Earhart, Beth, Huffman, Lynne C., Rhine, William D., Carlo, Waldemar A., Peralta-Carcelen, Myriam, Rector, Richard V., Brumbaugh, Jane E., Goeke, Claire A., Lindower, Julie B., McElroy, Steven J., Rabe, Glenda K., Roghair, Robert D., Murphy, Cary R., Fernandez, Erika, Kuan, Elizabeth, Lowe, Jean R., Schmidt, Barbara, DeMauro, Sara B., Hurt, Hallam, Myers, Gary J., Jensen, Rosemary L., Wynn, Karen, Farooq, Osman, Merzbach, Joan, Bowman, Melissa, Orme, Constance, Williams, Ashley, Vasil, Diana M., Guzman, Alicia, Madden, Linda A., Ramon, Emma, Osborne, Karen A., Spencer, Cynthia, Steele, R. Edison, Baker, Shawna, Bird, Karie, Bara, Rebecca, Childs, Kirsten, Prentice, Jeannette E., Goldston, Laura A., Bajaj, Monika, Barks, John

    Veröffentlicht in The Journal of pediatrics

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    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy von Donkervoort, Sandra, Mohassel, Payam, Brull, Astrid, Mozaffar, Tahseen, Dyment, David A., Pajusalu, Sander, Hurth, Kyle, McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Allworth, Aimee, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beggs, Alan H., Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Brown, Gabrielle, Butte, Manish J., Cassini, Thomas, Chao, Hsiao‐Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Emrick, Lisa T., Fu, Jiayu, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Huang, Yan, Hutchison, Sarah, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Maduro, Valerie V., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McGee, Elisabeth, Miller, Danny, Mirzaa, Ghayda, Nakano‐Okuno, Mariko, Nelson, Stanley F., Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Petcharet, Leoyklang, Phillips, John A., Quinlan, Aaron, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Solomon, Ben, Sullivan, Kathleen, Sutton, Shirley, Tan, Queenie K.‐G., Amelia, L. M. Tan, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Wang, Lee‐kai, Wangler, Michael F., Wegner, Daniel, Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Mammen, Andrew L., O'Donnell‐Luria, Anne


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    Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome von Pujol‐Giménez, Jonai, Miller, Danny E., Allworth, Aimee, Chanprasert, Sirisak, Folta, Andrew B., Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Rosenthal, Elisabeth A., Schwarze, Ulrike, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Sánchez, Diana Cornejo, Gomeztagle‐Burgess, Katherine, Hurless, Jameson R., Shively, Kathryn M., Weiss, Jeffrey M., Wheeler, Marsha M., Adam, Margaret, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Barbouth, Deborah, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Byers, Peter, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Clark, Gary D., Cole, F. Sessions, Corona, Rosario, Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Emrick, Lisa T., Fisher, Paul G., Gahl, William A., Hadley, Don, Hahn, Sihoun, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Hutchison, Sarah, Izumi, Kosuke, Kohane, Isaac S., Kohler, Jennefer N., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lewis, Richard A., Liu, Xue Zhong, Maduro, Valerie V., Manolio, Teri A., McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Moretti, Paolo, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rosenfeld, Jill A., Saporta, Mario, Schaechter, Judy, Scott, Daryl A., Sisco, Kathy, Spillmann, Rebecca C., Sullivan, Jennifer A., Tabor, Holly K., Tifft, Cynthia J., Ungar, Rachel A., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Yamamoto, Shinya, Dipple, Katrina M., Stergachis, Andrew B.


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    Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples von Tan, Queenie K.‐G., Palmer, Christina G. S., Adams, David R., Azamian, Mahshid S., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Sessions Cole, F., Craigen, William J., Davids, Mariska, Dorrani, Naghmeh, Earl, Dawn, Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Gutierrez, Irma, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Johnston, Jean M., Kennedy, Jennifer, Kiley, Dana, Krasnewich, Donna M., Krier, Joel B., Lee, Hane, Lincoln, Sharyn A., Liu, Xue Zhong, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mak, Bryan, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martínez‐Agosto, Julian A., McGee, Elisabeth, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Morimoto, Marie, Murdock, David R., Newman, John H., Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Carl Pallais, J., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Ron Scott, C., Schedl, Timothy, Scott, Daryl A., Sillari, Catherine H., Sinsheimer, Janet S., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tamburro, Cecelia P., Thorson, Willa, Tran, Alyssa A., Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Walsh, Chris A., Wang, Lee‐kai, Wangler, Michael F., Wener, Mark, Perry, Katherine Wesseling, Wheeler, Matthew T., Whitlock, Jordan, Woods, Jeremy D.

    Veröffentlicht in Journal of genetic counseling

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    Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice von LeBlanc, Kimberly, Acosta, Maria T, Adams, David R., Bacino, Carlos A., Bademci, Guney, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Bivona, Stephanie, Blue, Elizabeth, Bonnenmann, Carsten, Brokamp, Elly, Butte, Manish J., Byrd, William E., Chang, Ta Chen Peter, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Colley, Heather A., Cooper, Cynthia M., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fieg, Elizabeth L., Findley, Laurie C., Fresard, Laure, Goldstein, David B., Grajewski, Alana, Gropman, Andrea L., Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jarvik, Jeffrey, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lau, C. Christopher, Lee, Brendan H., Lewis, Richard A., Maduro, Valerie V., Mamounas, Laura A., Maravilla, Kenneth, Marom, Ronit, McCormack, Colleen E., McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Nicholas, Sarah K., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Raskind, Wendy, Rao, Deepak A., Sacco, Ralph, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Sharma, Prashant, Shin, Jimann, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Tamburro, Cecelia P., Telischi, Fred, Toro, Camilo, Vogel, Tiphanie P., Wahl, Colleen E., Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yu, Guoyun, Zhao, Chunli

    Veröffentlicht in Journal of genetic counseling

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    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey von Cope, Heidi, Hoppman, Nicole, Rehder, Catherine, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Baker, Eva, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Cobban, Laurel A., Cogan, Joy D., Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Douine, Emilie D., Draper, David D., Fieg, Elizabeth L., Findley, Laurie C., Fogel, Brent L., Fresard, Laure, Golden‐Grant, Katie, Goldrich, Madison P, Grajewski, Alana, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Isasi, Rosario, Jarvik, Gail P., Jayadev, Suman, Karaviti, Lefkothea, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Longo, Nicola, Majcherska, Marta M., Manolio, Teri A., Mao, Rong, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Mirzaa, Ghayda, Mosbrook‐Davis, Deborah, Newman, John H, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Raja, Archana N., Rosenfeld, Jill A., Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schoch, Kelly, Signer, Rebecca, Sisco, Kathy, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Kathleen, Tabor, Holly K., Tifft, Cynthia J., Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Wener, Mark, Wheeler, Matthew T., Whitlock, Jordan, Yang, John, Zhao, Chunli


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    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature von Macnamara, Ellen F., D'Souza, Precilla, Vezina, Gilbert, Tifft, Cynthia J., Adams, David R., Azamian, Mahshid S., Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Craigen, William J., Cunningham, Michael, Dayal, Jyoti G., Deardorff, Matthew, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Hassey, Kelly, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Jarvik, Gail P., Jarvik, Jeffrey, Johnston, Jean M., Kohane, Isaac S., Krakow, Deborah, Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, MacRae, Calum A., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., McCormack, Colleen E., McGee, Elisabeth, Merritt, J. Lawrence, Might, Matthew, Mulvihill, John J., Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pak, Stephen, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Saporta, Mario, Ron Scott, C., Schaechter, Judy, Schoch, Kelly, Sharma, Prashant, Shin, Jimann, Sillari, Catherine H., Sisco, Kathy, Smith, Kevin S., Stoler, Joan M., Stong, Nicholas, Tamburro, Cecelia P., Tekin, Mustafa, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Wesseling Perry, Katherine, Westerfield, Monte, Wolfe, Lynne A., Zuchner, Stephan


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