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Reference
Reference
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B 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 Behnam, Babak 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 Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi 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 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 Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos 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 Jiang, Yong-hui 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 Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article
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 Sullivan, Patrick and Yuan, Maoli and Coleman, John and Destefano, Joanne and Zhang, Xinsheng and Yates, Nicole and Barouch, Dan and Ackerman, Margaret and Decamp, Allan and Alter, Galit and Tomaras, Georgia and Tomaras, Georgia and Montefiori, David and Montefiori, David and Rasmussen, Beth and Morrow, Gavin and Koff, Wayne and Kashuba, Angela and Kashuba, Angela and Mascola, John and Picker, Louis and Kent, Stephen and Selhorst, Philippe and Masson, Lindi and Ngandu, Nobubelo and Rademeyer, Cecilia and Karim, Quarraisha Abdool and Kijak, Gustavo and Barouch, Dan and Rasheed, Ata Ur and Havenar-Daughton, Colin and Pham, Matthew and Kovalenkov, Yevgeniy and Gumber, Sanjeev and Johnson, Matthew and Wrammert, Jens and Villinger, Francois and Haynes, Barton and Haynes, Barton and Fox, Christopher and Reed, Steve and Vasilakos, John and Tomai, Mark and Crotty, Shane and Ahmed, Rafi and Pulendran, Bali and Fukazawa, Yoshinori and Lifson, Jeffrey and Lifson, Jeffrey and Moore, Penny and Chatora, Kumbirai and Skorochod, Elisabeth and Madidi, Ngonidzashe and Gomez, Anabel and Ncube, Getrude and Sundaram, Maaya and Kretschmer, Steve and Pauthner, Matthias and Briney, Bryan and Lee, Jeong Hyun and Saye-Francisco, Karen and Hsueh, Jessica and Ramos, Alejandra and Le, Khoa and Jones, Meaghan and Jardine, Joseph and Bastidas, Raiza and Sarkar, Anita and Liang, Chi-Hui and Wilson, Ian and Ward, Andrew and Zhu, Jiang and Poignard, Pascal and Burton, Dennis and Krebs, Shelly and Law, Wiliam and Gift, Syna and Chenine, Agnes and Rolland, Morgane and Moody, M. Anthony and Jarosinski, Marissa and Georgiev, Ivelin and Chuang, Gwo-Yu and Chuang, Gwo-Yu and Asokan, Mangaiarkarasi and Bailer, Robert T and Cale, Evan M and Louder, Mark and Kwong, Peter D and Polonis, Victoria and Tovanabutra, Sodsai and Robb, Merlin and Mascola, John R and Wibmer, Constantinos Kurt and Wibmer, Constantinos Kurt and Madzorera, Vimbai S and Doria-Rose, Nicole A and Morris, Lynn and Moore, Penny L and Anthony, Colin and ...
AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2016, Volume 32, Issue S1, pp. 1 - 409
Journal Article
by Dennis, Martin and Mead, Gillian and Forbes, John and Graham, Catriona and Hackett, Maree and Hankey, Graeme J and House, Allan and Lewis, Stephanie and Lundström, Erik and Sandercock, Peter and Innes, Karen and Williams, Carol and Drever, Jonathan and Mcgrath, Aileen and Deary, Ann and Fraser, Ruth and Anderson, Rosemary and Walker, Pauli and Perry, David and Mcgill, Connor and Buchanan, David and Chun, Yvonne and Dinsmore, Lynn and Maschauer, Emma and Barugh, Amanda and Mikhail, Shadia and Blair, Gordon and Hoeritzauer, Ingrid and Scott, Maggie and Fraser, Greig and Lawrence, Katherine and Shaw, Alison and Williamson, Judith and Burgess, David and Macleod, Malcolm and Morales, Dan and Sullivan, Frank and Brady, Marian and French, Ray and Van Wijck, Frederike and Watkins, Caroline and Proudfoot, Fiona and Skwarski, Joanna and Mcgowan, Diane and Murphy, Rachael and Burgess, Seona and Rutherford, William and Mccormick, Katrina and Buchan, Ruaridh and Macraild, Allan and Paulton, Ruth and Fazal, Adnan and Taylor, Pat and Parakramawansha, Ruwan and Hunter, Neil and Perry, Jack and Bamford, John and Waugh, Dean and Veraque, Emelda and Bedford, Caroline and Kambafwile, Mary and Idrovo, Luis and Makawa, Linetty and Smalley, Paula and Randall, Marc and Thirugnana-Chandran, Tharani and Hassan, Ahamad and Vowden, Richard and Jackson, Joanne and Bhalla, Ajay and Rudd, Anthony and Tam, Chi Kai and Birns, Jonathan and Gibbs, Charlotte and Lee Carbon, Leonie and Cattermole, Elizabeth and Marks, Katherine and Cape, Angela and Hurley, Lisa and Kullane, Sagal and Smyth, Nigel and Eglinton, Charlotte and Wilson, Jennifer and Giallombardo, Elio and Frith, Angela and Reidy, Paul and Pitt, Matthew and Sykes, Lucy and Dellafera, Deborah and Croome, Victoria and Kerwood, Lauriane and Hancevic, Mirea and Narh, Christina and Merritt, Carley and Duffy, John and Cooke, Duncan and Willson, Juliet and Ali, Ali and Naqvi, Aaizza and Kamara, Christine and ... and FOCUS Trial Collaboration and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Neurologi and Uppsala universitet and Institutionen för neurovetenskap
The Lancet, ISSN 0140-6736, 01/2019, Volume 393, Issue 10168, pp. 265 - 274
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and ... and Undiagnosed Diseases Network and Undiag Dis Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article
The Permanente Journal, ISSN 1552-5767, 2017
Journal Article