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5
Role
Title
Level Year L/R
🐜 De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
270 auth. O. Kanca, Jonathan C. Andrews, Pei-Tseng Lee, C. Patel, S. Braddock, Stephen R. Braddock, A. Slavotinek, Julie S. Cohen, Cynthia S. Gubbels, K. Aldinger, Judy Williams, Maanasa Indaram, A. Fatemi, T. Yu, Pankaj B. Agrawal, ... G. Vezina, Cas Simons, J. Crawford, C. Lau, Maria T. Acosta, D. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, J. Alvey, A. Andrews, Euan A. Ashley, M. Azamian, C. Bacino, G. Bademci, Eva Baker, A. Balasubramanyam, Dustin Baldridge, Jim Bale, D. Barbouth, Gabriel F. Batzli, P. Bayrak-Toydemir, A. Beggs, G. Bejerano, H. Bellen, Jonathan A. Bernstein, Gerard T. Berry, A. Bican, D. Bick, Camille L. Birch, Stephanie A Bivona, J. Bohnsack, Carsten Bonnenmann, D. Bonner, B. Boone, Bret L. Bostwick, L. Botto, Lauren C Briere, Elly Brokamp, Donna M. Brown, Matthew H. Brush, Elizabeth A Burke, Lindsay C Burrage, M. Butte, J. Carey, O. Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, G. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, F. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, Surendra Dasari, M. Davids, J. Dayal, E. C. Dell’Angelica, S. Dhar, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, Laura Duncan, D. Eckstein, Lisa T. Emrick, C. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos R. Ferreira, Elizabeth Fieg, Paul G Fisher, B. L. Fogel, I. Forghani, Laure Frésard, W. Gahl, Rena A. Godfrey, A. Goldman, D. Goldstein, J. Gourdine, A. Grajewski, C. Groden, A. Gropman, M. Haendel, Rizwana Hamid, N. Hanchard, Nichole Hayes, F. High, I. Holm, J. Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yongjie Jiang, Jean M. Johnston, Angela L. Jones, L. Karaviti, Emily G. Kelley, Dana Kiley, D. Koeller, I. Kohane, J. Kohler, D. Krakow, D. Krasnewich, S. Korrick, Mary E. Koziura, J. Krier, J. Kyle, S. Lalani, Byron L. Lam, Brendan C Lanpher, Ian R. Lanza, J. Lazar, Kimberly Leblanc, Brendan Lee, Hane Lee, Roy Levitt, Shawn Levy, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Z. Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, Rong Mao, T. Markello, Ronit Marom, Gabor T. Marth, B. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, Thomas May, J. McCauley, A. McConkie-Rosell, Col Mccormack, A. McCray, Thomas O. Metz, M. Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, A. Nath, Stan F. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, Christina G.S. Palmer, J. Papp, Neil H. Parker, John Arul Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, A. Quinlan, A. Raja, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, R. Rowley, M. Ruzhnikov, R. Sacco, J. Sampson, Susan L. Samson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, D. Scott, Lisa Shakachite, Prashant Sharma, V. Shashi, K. Shields, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, J. Sinsheimer, Kathy Sisco, Kevin Scott Smith, L. Solnica-Krezel, Rebecca C. Spillmann, J. Stoler, N. Stong, J. Sullivan, S. Sutton, D. Sweetser, H. Tabor, Cecelia P. Tamburro, Q. Tan, M. Tekin, Fred F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, T. Vogel, Colleen E. Wahl, N. Walley, Christopher A. Walsh, M. Walker, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, P. Ward, Katrina M. Waters, B. Webb-Robertson, D. Wegner, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, Jeremy D Woods, E. Worthey, Shinya Yamamoto, John Yang, A. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, S. Züchner, W. Chung, W. B. Dobyns, W. B. Dobyns
5 2019
5
🐜
🐜 De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
268 auth. O. Kanca, Jonathan C. Andrews, Pei-Tseng Lee, C. Patel, Stephen R. Braddock, A. Slavotinek, Julie S. Cohen, Cynthia S. Gubbels, K. Aldinger, Judy Williams, Maanasa Indaram, A. Fatemi, Timothy W. Yu, Pankaj B. Agrawal, G. Vezina, ... Cas Simons, J. Crawford, C. Lau, Wendy K. Chung, T. Markello, W. B. Dobyns, David R. Adams, W. A. Gahl, M. Wangler, Shinya Yamamoto, H. Bellen, M. Malicdan, Maria T. Acosta, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, J. Alvey, A. Andrews, Euan A. Ashley, M. Azamian, C. Bacino, G. Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, D. Barbouth, Gabriel F. Batzli, P. Bayrak-Toydemir, A. Beggs, G. Bejerano, Jonathan A Bernstein, Gerard T. Berry, A. Bican, David P. Bick, Camille L. Birch, Stephanie A Bivona, J. Bohnsack, Carsten Bonnenmann, D. Bonner, B. Boone, Bret L. Bostwick, L. Botto, Lauren C Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A Burke, Lindsay C Burrage, M. Butte, J. Carey, O. Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, F. S. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, Surendra Dasari, M. Davids, J. Dayal, E. C. Dell’Angelica, S. Dhar, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, Laura Duncan, D. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos R. Ferreira, Elizabeth Fieg, Paul G Fisher, B. L. Fogel, I. Forghani, Laure Frésard, Rena A. Godfrey, A. Goldman, David B. Goldstein, Jean-Philippe Francois Gourdine, A. Grajewski, C. Groden, A. Gropman, Melissa Haendel, Rizwana Hamid, N. Hanchard, Nichole Hayes, F. High, I. Holm, J. Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yongjie Jiang, Jean M. Johnston, Angela L. Jones, L. Karaviti, Emily G. Kelley, Dana Kiley, David M. Koeller, I. Kohane, J. Kohler, Deborah Krakow, D. Krasnewich, S. Korrick, Mary E. Koziura, J. Krier, J. Kyle, S. Lalani, Byron L. Lam, Brendan C Lanpher, Ian R. Lanza, J. Lazar, Kimberly Leblanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn Levy, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Z. Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, L. Mamounas, T. Manolio, Rong Mao, Ronit Marom, Gabor T. Marth, Beth A. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, Thomas May, J. McCauley, A. McConkie-Rosell, Col Mccormack, A. McCray, Thomas O. Metz, M. Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, A. Nath, Stan F. Nelson, J. S. Newberry, J. Newman, Sarah K. Nicholas, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, Christina G.S. Palmer, J. Papp, Neil H. Parker, John A. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, Aaron Quinlan, A. Raja, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, Jill A. Rosenfeld, R. Rowley, M. Ruzhnikov, R. Sacco, J. Sampson, Susan L. Samson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, V. Shashi, K. Shields, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, J. Sinsheimer, Kathy Sisco, Kevin Scott Smith, L. Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, N. Stong, J. Sullivan, S. Sutton, D. Sweetser, H. Tabor, Cecelia P. Tamburro, Q. Tan, M. Tekin, Fred F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P Vogel, Colleen E. Wahl, N. Walley, C. Walsh, Melissa Walker, J. Wambach, Jijun Wan, Lee-Kai Wang, Patricia A. Ward, Katrina M. Waters, B. Webb-Robertson, D. Wegner, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, Jeremy D Woods, E. Worthey, John Yang, A. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, S. Zuchner
3 2019
3
🐜
🐜 VarSight: prioritizing clinically reported variants with binary classification algorithms
279 auth. James M. Holt, Brandon M Wilk, Camille L. Birch, Donna M. Brown, M. Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Maria T. Acosta, ... Margaret P. Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, J. Alvey, L. Amendola, A. Andrews, Euan A. Ashley, M. Azamian, C. Bacino, G. Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, D. Barbouth, Gabriel F. Batzli, P. Bayrak-Toydemir, Anita Beck, A. Beggs, G. Bejerano, H. Bellen, J. Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A Bernstein, Gerard T. Berry, A. Bican, Stephanie A Bivona, Elizabeth E. Blue, J. Bohnsack, Carsten Bonnenmann, D. Bonner, L. Botto, Lauren C Briere, Elly Brokamp, Elizabeth A Burke, Lindsay C Burrage, M. Butte, Peter Byers, J. Carey, O. Carrasquillo, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, T. Coakley, Laurel A. Cobban, Joy D. Cogan, F. S. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, M. Davids, J. Dayal, E. C. Dell’Angelica, S. Dhar, Katrina M. Dipple, Dan Doherty, N. Dorrani, E. Douine, David D. Draper, Laura Duncan, D. Earl, D. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos R. Ferreira, Elizabeth Fieg, Paul G Fisher, B. L. Fogel, I. Forghani, Laure Frésard, William Gahl, Ian A. Glass, Rena A. Godfrey, Katie Golden-Grant, A. Goldman, David B. Goldstein, A. Grajewski, C. Groden, A. Gropman, S. Hahn, Rizwana Hamid, Neal Hanchard, Nichole Hayes, Frances High, A. Hing, F. Hisama, Ingrid A. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, J. Jarvik, S. Jayadev, Yongjie Jiang, Jean M. Johnston, L. Karaviti, Emily G. Kelley, Dana Kiley, Isaac S. Kohane, J. Kohler, Deborah Krakow, D. Krasnewich, Susan Korrick, Mary E. Koziura, J. Krier, S. Lalani, Byron L. Lam, Christina Lam, Brendan C Lanpher, Ian R. Lanza, C. Lau, Kimberly Leblanc, Brendan H. Lee, Hane Lee, Roy Levitt, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Z. Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, Rong Mao, K. Maravilla, T. Markello, Ronit Marom, Gabor T. Marth, Beth A. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, J. McCauley, A. McConkie-Rosell, Col Mccormack, Alexa T McCray, H. Mefford, J. L. Merritt, M. Might, G. Mirzaa, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, A. Nath, Stan F. Nelson, J. Newman, Sarah K. Nicholas, Deborah A. Nickerson, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, Christina G.S. Palmer, J. Papp, Neil H. Parker, John A. Phillips III, J. Posey, John H. Postlethwait, L. Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, A. Raja, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, Jill A. Rosenfeld, R. Rowley, M. Ruzhnikov, R. Sacco, J. Sampson, Susan L. Samson, M. Saporta, C. R. Scott, J. Schaechter, Timothy Schedl, K. Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, V. Shashi, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, J. Sinsheimer, Kathy Sisco, Kevin Scott Smith, L. Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, N. Stong, J. Sullivan, Angela Sun, S. Sutton, D. Sweetser, Virginia Sybert, H. Tabor, Cecelia P. Tamburro, Q. Tan, M. Tekin, Fred F. Telischi, Willa L Thorson, C. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P Vogel, Colleen E. Wahl, Stephanie Wallace, N. Walley, C. Walsh, Melissa Walker, Jennifer A. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, Patricia A. Ward, D. Wegner, Mark Wener, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, Jeremy D Woods, Shinya Yamamoto, John Yang, A. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, S. Zuchner, E. Worthey
3 2019
3
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