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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
The New England Journal of Medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
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
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, Christopher J and Adams, David R 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 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 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 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 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 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 Lee, Hane and Lee, Paul R and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | SEQUENCE VARIANTS | PHENOTYPES | DATABASE | GENETICS & HEREDITY | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation
Journal Article
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
by Chao, Hsiao-Tuan and Davids, Mariska and Burke, Elizabeth and Pappas, John G and Rosenfeld, Jill A and McCarty, Alexandra J and Davis, Taylor and Wolfe, Lynne and Toro, Camilo and Tifft, Cynthia and Xia, Fan and Stong, Nicholas and Johnson, Travis K and Warr, Coral G and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew 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, Dan C and Draper, David D and Dries, Annika M 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 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 Lee, Hane and Lee, Paul R and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and ... and Undiagnosed Diseases Network and Undiag Dis Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 128 - 137
Journal Article