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by Northrup, Hope and Krueger, Darcy A and Roberds, Steven and Smith, Katie and Sampson, Julian and Korf, Bruce and Kwiatkowski, David J and Mowat, David and Nellist, Mark and Povey, Sue and de Vries, Petrus and Byars, Anna and Dunn, David and Ess, Kevin and Hook, Dena and Jansen, Anna and King, Bryan and Sahin, Mustafa and Whittemore, Vicky and Thiele, Elizabeth and Bebin, E. Martina and Chugani, Harry T and Crino, Peter and Curatolo, Paolo and Holmes, Greg and Nabbout, Rima and O'Callaghan, Finbar and Wheless, James and Wu, Joyce and Darling, Thomas N and Cowen, Edward W and Gosnell, Elizabeth and Hebert, Adelaide and Mlynarczyk, Greg and Soltani, Keyomaurs and Teng, Joyce and Wataya-Kaneda, Mari and Witman, Patricia M and Kingswood, Chris and Bissler, John and Budde, Klemens and Hulbert, John and Guay-Woodford, Lisa and Sauter, Matthias and Zonneberg, Bernard and Jóźwiak, Sergiusz and Bartels, Ute and Berhouma, Moncef and Franz, David Neal and Koenig, Mary Kay and Roach, E. Steve and Roth, Jonathan and Wang, Henry and Weiner, Howard and McCormack, Francis X and Almoosa, Khalid and Brody, Alan and Burger, Charles and Cottin, Vincent and Finlay, Geraldine and Glass, Jennifer and Henske, Elizabeth Petri and Johnson, Simon and Kotloff, Robert and Lynch, David and Moss, Joel and Smith, Karen and Rhu, Jay and Da Silva, Angelo Taveira and Young, Lisa R and Knilans, Timothy and Hinton, Robert and Prakash, Ashwin and Romp, Robb and Singh, Arun D and DebRoy, Ashish and Chen, Pei-Lung and Sparagana, Steven and Frost, Michael D and International Tuberous Sclerosis Complex Consensus Group and Int Tuberous Sclerosis Complex
Pediatric neurology, ISSN 0887-8994, 10/2013, Volume 49, Issue 4, pp. 243 - 254
Abstract Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the... 
Pediatrics | Neurology | tuberous sclerosis | diagnostic criteria | clinical features | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Conferences, meetings and seminars | Tuberous sclerosis
Journal Article
by Krueger, Darcy A and Northrup, Hope and Roberds, Steven and Smith, Katie and Sampson, Julian and Korf, Bruce and Kwiatkowski, David J and Mowat, David and Nellist, Mark and Povey, Sue and de Vries, Petrus and Byars, Anna and Dunn, David and Ess, Kevin and Hook, Dena and Jansen, Anna and King, Bryan and Sahin, Mustafa and Whittemore, Vicky and Thiele, Elizabeth and Bebin, E. Martina and Chugani, Harry T and Crino, Peter and Curatolo, Paolo and Holmes, Greg and Nabbout, Rima and O'Callaghan, Finbar and Wheless, James and Wu, Joyce and Darling, Thomas N and Cowen, Edward W and Gosnell, Elizabeth and Hebert, Adelaide and Mlynarczyk, Greg and Soltani, Keyomaurs and Teng, Joyce and Wataya-Kaneda, Mari and Witman, Patricia M and Kingswood, Chris and Bissler, John and Budde, Klemens and Hulbert, John and Guay-Woodford, Lisa and Sauter, Matthias and Zonneberg, Bernard and Jóźwiak, Sergiusz and Bartels, Ute and Berhouma, Moncef and Franz, David Neal and Koenig, Mary Kay and Roach, E. Steve and Roth, Jonathan and Wang, Henry and Weiner, Howard and McCormack, Francis X and Almoosa, Khalid and Brody, Alan and Burger, Charles and Cottin, Vincent and Finlay, Geraldine and Glass, Jennifer and Henske, Elizabeth Petri and Johnson, Simon and Kotloff, Robert and Lynch, David and Moss, Joel and Smith, Karen and Rhu, Jay and Da Silva, Angelo Taveira and Young, Lisa R and Knilans, Timothy and Hinton, Robert and Prakash, Ashwin and Romp, Robb and Singh, Arun D and DebRoy, Ashish and Chen, Pei-Lung and Sparagana, Steven and Frost, Michael D and International Tuberous Sclerosis Complex Consensus Group and Int Tuberous Sclerosis Complex
Pediatric neurology, ISSN 0887-8994, 10/2013, Volume 49, Issue 4, pp. 255 - 265
Journal Article
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and Dugan, Noreen P and Dukhovny, Dmitry and Dulik, Matthew C and East, Kelly M and Rivera-Munoz, Edgar A and Evans, Barbara and Everett, Jessica and Exe, Nicole and ... and the CSER Consortium and CSER Consortium
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Journal Article
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Appelbaum, Paul S and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Caga-anan, Charlisse F and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Chinnaiyan, Arul M and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and ...
American journal of human genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 246
(The American Journal of Human Genetics 98, 1051–1066; June 2, 2016) In the originally published version of this article, the first name of Christian R.... 
Journal Article
Clinical genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 174 - 178
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve... 
clinical sequencing | CSER | VUS | developmental delay | reanalysis | data sharing | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | DNA polymerases | Disease susceptibility | Analysis | Genomics | DNA | Genetic diversity | Index Medicus | Reanalysis
Journal Article
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and Dugan, Noreen P and Dukhovny, Dmitry and Dulik, Matthew C and East, Kelly M and Rivera-Munoz, Edgar A and Evans, Barbara and Everett, Jessica and Exe, Nicole and ... and the CSER Consortium
American journal of human genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 246 - 246
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 06/1999, Volume 40, Issue 6, pp. 703 - 707
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 07/1993, Volume 34, Issue 4, pp. 651 - 657
Journal Article