Search Results - FINDLEY, P. F

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    EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder by Forghani, Irman, Adam, Margaret, Azamian, Mahshid S., Baker, Eva, Baldridge, Dustin, Bale, Jim, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Cogan, Joy D., Colley, Heather A., D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Gochuico, Bernadette, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Murdock, David R., Nieves‐Rodriguez, Shirley, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sun, Angela, Tabor, Holly K., Tan, Amelia L. M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Zein, Wadih, Zuchner, Stephan

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    H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome by Bivona, Stephanie, Peart, LéShon, Guo, Shengru, Adam, Margaret, Agrawal, Pankaj B., Alvey, Justin, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Chanprasert, Sirisak, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, LaMoure, Grace L., Lee, Brendan H., Lincoln, Sharyn A., Loo, Sandra K., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, Mefford, Heather, Morava, Eva, Mulvihill, John J., Nakano‐Okuno, Mariko, Nath, Avi, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Raskind, Wendy, Renteria, Genecee, Ruzhnikov, Maura, Samson, Susan L., Shashi, Vandana, Silverman, Edwin K., Sisco, Kathy, Solnica‐Krezel, Lilianna, Solomon, Ben, Sun, Angela, Sweetser, David A., Tan, Queenie K.‐G., Thorson, Willa, Thurm, Audrey, Tran, Alyssa A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

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    Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples by 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.

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    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey by 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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