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Pediatric Neurology, ISSN 0887-8994, 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 | LYMPHANGIOLEIOMYOMATOSIS | MANAGEMENT | VARIANTS | FUNCTIONAL ASSESSMENT | TSC1 | CARDIAC TUMORS | CLINICAL NEUROLOGY | MICRONODULAR PNEUMOCYTE HYPERPLASIA | ANGIOMYOLIPOMAS | DISEASE | HOGG-DUBE-SYNDROME | PEDIATRICS | Conferences, meetings and seminars | Tuberous sclerosis
Journal Article
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
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 | GENOTYPES | GENETICS & HEREDITY | DISORDERS | CHILDREN | DNA polymerases | Disease susceptibility | Analysis | Genomics | DNA | Genetic diversity | 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 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
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 and Chung, Wendy K and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha M and Knoppers, Bartha and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria M and Petersen, Gloria and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Dan and Robinson, Jill O and Robinson, Marguerite E and Salama, Joseph S and Salama, Joseph and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 246 - 246
Journal Article
Epilepsia, ISSN 0013-9580, 06/1999, Volume 40, Issue 6, pp. 703 - 707
Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 07/1988, Volume 3, Issue 3, pp. 181 - 184
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 1998, Volume 13, Issue 1, pp. S30 - S32
Journal Article