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2006, ISBN 9781593852719, xv, 432
Book
2005, Atmosphere-ocean, Volume 43, no. 4 (Dec. 2005), 376
Book
by Pena, Loren D.M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Horn, Sarah Rapisardo and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S.G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Goldstein, David B and Shashi, Vandana and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Bostwick, Bret L and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lee, Brendan H and Lewis, Richard A and Azamian, Mashid S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Samson, Susan L and Scott, Daryl A and Tran, Alyssa A and Vogel, Tiphanie P and Zhang, Jing and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Pena, Loren D.M and Walley, Nicole M and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and Might, Matthew and Ramoni, Rachel B and Splinter, Kimberly and Bick, David P and Birch, Camille L and Boone, Braden E and Brown, Donna M and Dorset, Daniel C and Handley, Lori H and Jacob, Howard J and Jones, Angela L and Lazar, Jozef and Levy, Shawn E and Newberry, J. Scott and Schroeder, Molly C and ... and Undiagnosed Dis Network Members and Undiagnosed Diseases Network Members
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
Purpose: To describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic... 
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | LEUKOENCEPHALOPATHY | REANALYSIS | GENE | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
Journal Article
by Walley, Nicole M and Pena, Loren D. M and Hooper, Stephen R and Cope, Heidi and Jiang, Yong-Hui and McConkie-Rosell, Allyn and Sanders, Camilla and Schoch, Kelly and Spillmann, Rebecca C and Strong, Kimberly and McCray, Alexa T and Mazur, Paul and Esteves, Cecilia and Leblanc, Kimberly and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and D'Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Estwick, Tyra and Fernandez, Liliana and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Christopher Lau, C and Lazar, Jozef and Lee, Brendan H and Lee, Hane and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
BMC Health Services Research, ISSN 1472-6963, 08/2018, Volume 18, Issue 1, pp. 652 - 8
Journal Article
by Yu, Jeannette J and Agrón, Elvira and Clemons, Traci E and Domalpally, Amitha and van Asten, Freekje and Keenan, Tiarnan D and Cukras, Catherine and Chew, Emily Y and Chew, Emily Y and Ferris, Frederick L and SanGiovanni, John Paul and Agrón, Elvira and Clemons, Traci and Lindblad, Anne and Lindblad, Robert and Shah, Nilay and Sperduto, Robert and McBee, Wendy and Gensler, Gary and Harrington, Molly and Henning, Alice and Jones, Katrina and Thotapally, Kumar and Tull, Diana and Watson, Valerie and Williams, Kayla and Gentry, Christina and Kaufman, Francine and Morrison, Chris and Saverino, Elizabeth and Schenning, Sherrie and Blodi, Barbara and Danis, Ronald P and Davis, Matthew and Domalpally, Amitha and Glander, Kathy and Guilfoil, Gregory and Hubbard, Larry D and Johnson, Kristine and Klein, Ronald and Nardi, Barbara and Neider, Michael and Robinson, Nancy and Rosensteel, Eileen and Wabers, Hugh and Zhang, Grace and Ruby, Alan J and Capone, Antonio and Dass, Bawa and Drenser, Kimberly and Garretson, Bruce R and Hassan, Tarek S and Trese, Michael and Williams, George A and Wolfe, Jeremy and Bell, Tina and Zajechowski, Mary and Bezaire, Dennis and McIver, Fran and Medina, Anthony and Pagett, Jackie and Smith, Stephanie Hatch and Swartz, Lynn and Treuter, Tom and Antoszyk, Andrew and Brown, Justin and Browning, David J and Holland, Walter and Karow, Angella and Stalford, Kelly and Price, Angela and Ennis, Sarah and Fredenberg, Sherry and Herby, Jenna and Balasubramaniam, Uma and Clark, Loraine and McClain, Donna and McOwen, Michael and Watson, Lynn and Klein, Michael and Bailey, Steven T and Hwang, Thomas J and Lauer, Andreas and Stout, J. Timothy and McCollum, Patty and Johnson, Milt and Rice, Patrick B and Kim, Ivana and Loewenstein, John and Miller, Joan and Sobrin, Lucia and Young, Lucy and Sullivan, Jacqueline and Houlihan, Patricia and Merry, Linda and Lane, Ann Marie and Bator, Ursula Lord and Evans, Claudia and Brett, Sarah and Callahan, Charleen and ... and Age-Related Eye Disease Study 2 Research Group
Ophthalmology, ISSN 0161-6420, 02/2019, Volume 126, Issue 2, pp. 261 - 273
To investigate the natural history and genetic associations of drusenoid pigment epithelial detachment (DPED) associated with age-related macular degeneration... 
Journal Article