BetterScholar BetterScholar
6
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
🐜
🐜 Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
309 auth. S. Kobren, Dustin Baldridge, Matt Velinder, J. Krier, Kimberly Leblanc, Cecilia Esteves, Barbara N. Pusey, S. Züchner, Elizabeth E. Blue, Hane Lee, Alden Huang, L. Bastarache, A. Bican, Joy D. Cogan, S. Marwaha, ... A. Alkelai, David R. Murdock, Pengfei Liu, D. Wegner, A. Paul, M. Acosta, M. Adam, D. Adams, P. Agrawal, Mercedes E. Alejandro, J. Alvey, L. Amendola, A. Andrews, Euan A. Ashley, M. Azamian, C. Bacino, G. Bademci, Eva Baker, A. Balasubramanyam, Dustin Baldridge, Jim Bale, M. Bamshad, D. Barbouth, P. Bayrak-Toydemir, A. Beck, A. Beggs, Edward Behrens, G. Bejerano, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, A. Bican, Stephanie A Bivona, Elizabeth E. Blue, J. Bohnsack, Carsten Bonnenmann, D. Bonner, L. Botto, Brenna Boyd, Lauren C Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A Burke, L. Burrage, M. Butte, Peter Byers, William E. Byrd, J. Carey, O. Carrasquillo, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, G. Clark, T. Coakley, Laurel A. Cobban, Joy D. Cogan, M. Coggins, F. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie N. Davis, Jyoti G. Daya, M. Deardorff, E. C. Dell’Angelica, S. Dhar, K. Dipple, Dan Doherty, N. Dorrani, A. Doss, E. Douine, David D. Draper, Laura Duncan, D. Earl, D. Eckstein, Lisa T. Emrick, C. Eng, Cecilia Esteves, Marni J. Falk, Liliana Fernandez, C. Ferreira, Elizabeth Fieg, Laurie C. Findley, P. Fisher, B. Fogel, I. Forghani, L. Frésard, W. Gahl, I. Glass, B. Gochuico, Rena A. Godfrey, Katie Golden-Grant, A. Goldman, Madison Goldrich, David B. Goldstein, A. Grajewski, C. Groden, Irma Gutierrez, S. Hahn, Rizwana Hamid, N. Hanchard, Kelly Hassey, Nichole Hayes, F. High, A. Hing, F. Hisama, I. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Yong Huang, Laryssa A. Huryn, Rosario Isasi, Fariha Jamal, G. Jarvik, J. Jarvik, S. Jayadev, L. Karaviti, Jennifer N. Kennedy, Dana Kiley, Isaac S. Kohane, J. Kohler, S. Korrick, Mary Kozuira, D. Krakow, D. Krasnewich, Elijah Kravets, J. Krier, Grace L. LaMoure, S. Lalani, Byron L. Lam, Christina Lam, Brendan C Lanpher, Ian R. Lanza, Lea Latham, Kimberly Leblanc, Brendan H. Lee, Hane Lee, R. Levitt, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Z. Liu, N. Longo, S. Loo, J. Loscalzo, R. Maas, J. Macdowall, C. Macrae, Ellen F. Macnamara, Valerie V. Maduro, Marta M. Majcherska, B. Mak, M. Malicdan, L. Mamounas, T. Manolio, R. Mao, K. Maravilla, T. Markello, Ronit Marom, Gabor T. Marth, B. Martin, Martín G. Martín, J. Martinez-Agosto, S. Marwaha, J. McCauley, A. McConkie-Rosell, Col Mccormack, A. McCray, E. McGee, H. Mefford, J. Merritt, M. Might, G. Mirzaa, E. Morava, Paolo M. Moretti, Paolo M. Moretti, Deborah Mosbrook-Davis, J. Mulvihill, David R. Murdock, Anna Nagy, Mariko Nakano-Okuno, A. Nath, Stan F. Nelson, J. Newman, S. Nicholas, D. Nickerson, S. Nieves-Rodriguez, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, J. Phillips, J. Posey, L. Potocki, Bradley Power, Barbara N. Pusey, A. Quinlan, A. Raja, Deepak A. Rao, W. Raskind, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, M. Ruzhnikov, R. Sacco, J. Sampson, S. Samson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, C. R. Scott, D. Scott, V. Shashi, Jimann Shin, Rebecca H. Signer, E. Silverman, J. Sinsheimer, Kathy Sisco, E. Smith, Kevin S. Smith, Emily P Solem, L. Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, J. Stoler, J. Sullivan, Kathleen E Sullivan, A. Sun, S. Sutton, D. Sweetser, V. Sybert, H. Tabor, Amelia L. M. Tan, Q. Tan, M. Tekin, F. Telischi, Willa L Thorson, A. Thurm, C. Tifft, C. Toro, Alyssa A. Tran, Brian M. Tucker, Tiina K. Urv, A. Vanderver, Matt Velinder, D. Viskochil, T. Vogel, Colleen E. Wahl, M. Walker, Stephanie Wallace, N. Walley, C. Walsh, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, P. Ward, D. Wegner, M. Wener, T. Wenger, K. W. Perry, M. Westerfield, M. Wheeler, Jordan H. Whitlock, L. Wolfe, Jeremy D Woods, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, W. Zein, Chunli Zhao, S. Zuchner, S. Sunyaev, Isaac S. Kohane
4 2021
4
🐜
🐜 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
🐜
🐜 HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
346 auth. Eva Niggl, A. Bouman, Lauren C Briere, R. Hoogenboezem, Ilse Wallaard, Joohyun Park, J. Admard, M. Wilke, Emilio D.R.O. Harris-Mostert, Minetta Elgersma, J. Bain, M. Balasubramanian, S. Banka, P. Benke, Miriam Bertrand, ... Alyssa Blesson, J. Clayton-Smith, J. Ellingford, Madelyn A. Gillentine, Dana H. Goodloe, T. Haack, Mahim Jain, I. Krantz, Sharon M Luu, Molly A McPheron, Candace Muss, S. Raible, N. Robin, Michael Spiller, S. Starling, D. Sweetser, I. Thiffault, Francesco Vetrini, Dennis Witt, Emily Woods, Dihong Zhou, Y. Elgersma, Annelot C. M. van Esbroeck, J. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C. Boustred, H. Brittain, M. A. Brown, M. Caulfield, G. Chan, A. Giess, J. Griffin, A. Hamblin, S. Henderson, T. Hubbard, R. Jackson, L. J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S. Leigh, I. Leong, F. J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A. Need, P. O’Donovan, C. Odhams, C. Patch, D. Perez-Gil, M. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R. Scott, A. Siddiq, A. Sieghart, S. C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A. L. Taylor Tavares, E. Thomas, S. Thompson, A. Tucci, M. Welland, E. Williams, K. Witkowska, S. Wood, M. Zarowiecki, M. Acosta, D. Adams, Raquel L. Alvarez, J. Alvey, Aimee Allworth, A. Andrews, Euan A. Ashley, B. Afzali, C. Bacino, G. Bademci, A. Balasubramanyam, Dustin Baldridge, Jim Bale, M. Bamshad, D. Barbouth, P. Bayrak-Toydemir, A. Beck, A. Beggs, Edward Behrens, G. Bejerano, H. Bellen, J. Bennet, Jonathan A. Bernstein, Gerard T. Berry, A. Bican, Stephanie A Bivona, Elizabeth E. Blue, J. Bohnsack, D. Bonner, L. Botto, Gabrielle Brown, Elizabeth A Burke, L. Burrage, M. Butte, Peter Byers, William E. Byrd, J. Carey, O. Carrasquillo, T. Cassini, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, Ivan K. Chinn, G. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, M. Coggins, F. Cole, H. Colley, H. Cope, Rosario I. Corona, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie N. Davis, J. Dayal, Margaret Delgado, E. C. Dell’Angelica, K. Dipple, Dan Doherty, N. Dorrani, A. Doss, E. Douine, D. Earl, D. Eckstein, Lisa T. Emrick, C. Eng, Marni J. Falk, Elizabeth Fieg, P. Fisher, B. Fogel, I. Forghani, Jiayu Fu, W. Gahl, I. Glass, Pagé C. Goddard, Rena A. Godfrey, A. Grajewski, M. Halley, Rizwana Hamid, N. Hanchard, Kelly Hassey, Nichole Hayes, F. High, A. Hing, F. Hisama, I. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Yan Huang, Sally Hutchison, W. Introne, Rosario Isasi, K. Izumi, G. Jarvik, J. Jarvik, S. Jayadev, Orpa Jean-Marie, V. Jobanputra, Emerald Kaitryn, Shamika Ketkar, Dana Kiley, Gonench Kilich, S. Kobren, I. Kohane, J. Kohler, S. Korrick, D. Krakow, D. Krasnewich, Elijah Kravets, S. Lalani, Byron L. Lam, Christina Lam, Brendan C Lanpher, Ian R. Lanza, Kimberly Leblanc, Brendan Lee, R. Levitt, R. Lewis, Pengfei Liu, X. Z. Liu, N. Longo, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, A. Maghiro, R. Mahoney, M. Malicdan, L. Mamounas, T. Manolio, Rong Mao, Ronit Marom, Gabor T. Marth, B. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, J. McCauley, A. McConkie-Rosell, A. McCray, E. McGee, M. Might, Danny E. Miller, G. Mirzaa, E. Morava, P. Moretti, Marie Morimoto, J. Mulvihill, Mariko Nakano-Okuno, Stan F. Nelson, S. Nieves-Rodriguez, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, J. Papp, Neil H. Parker, Leoyklang Petcharet, J. Phillips, J. Posey, L. Potocki, B. N. Swerdzewski, A. Quinlan, Deepak A. Rao, A. Raper, W. Raskind, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, Elizabeth Rosenthal, Francis Rossignol, M. Ruzhnikov, Marla Sabaii, R. Sacco, J. Sampson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, D. Scott, Elaine S. Seto, Prashant Sharma, V. Shashi, Emily Shelkowitz, Sam Sheppeard, Jimann Shin, E. Silverman, J. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin Scott Smith, L. Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, A. Stergachis, J. Stoler, Kathleen E Sullivan, J. Sullivan, S. Sutton, V. Sybert, H. Tabor, Q. Tan, Amelia L. M. Tan, Arjun Tarakad, M. Tekin, F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, A. Vanderver, Matt Velinder, D. Viskochil, T. Vogel, Colleen E. Wahl, M. Walker, N. Walley, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, P. Ward, D. Wegner, Monika Weisz, M. Wener, Tara Wenger, M. Westerfield, M. Wheeler, Jordan H. Whitlock, L. Wolfe, Shinya Yamamoto, Zhe Zhang, S. Zuchner
3 2023
3
🐜
🐜 Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
278 auth. Marie Morimoto, V. Bhambhani, N. Gazzaz, M. Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, J. Lange, A. Lehman, P. Zerfas, Jennifer Murphy, M. Acosta, Camille Wang, Emily Alderman, M. Adam, Raquel L. Alvarez, ... J. Alvey, L. Amendola, A. Andrews, Euan A. Ashley, M. Azamian, C. Bacino, G. Bademci, A. Balasubramanyam, Dustin Baldridge, Jim Bale, M. Bamshad, D. Barbouth, P. Bayrak-Toydemir, A. Beck, A. Beggs, Edward Behrens, G. Bejerano, H. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, A. Bican, Stephanie A Bivona, E. Blue, J. Bohnsack, D. Bonner, L. Botto, Brenna Boyd, Lauren C Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A Burke, L. Burrage, M. Butte, Peter Byers, William E. Byrd, J. Carey, O. Carrasquillo, T. Cassini, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, G. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, M. Coggins, F. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie N. Davis, J. Dayal, E. C. Dell’Angelica, K. Dipple, Dan Doherty, N. Dorrani, A. Doss, E. Douine, Laura Duncan, D. Earl, D. Eckstein, Lisa T. Emrick, C. Eng, Cecilia Esteves, Marni J. Falk, Elizabeth Fieg, P. Fisher, B. Fogel, I. Forghani, I. Glass, B. Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden-Grant, A. Grajewski, Irma Gutierrez, Don Hadley, S. Hahn, M. Halley, Rizwana Hamid, Kelly Hassey, Nichole Hayes, F. High, A. Hing, F. Hisama, I. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Sally Hutchison, W. Introne, Rosario Isasi, K. Izumi, Fariha Jamal, G. Jarvik, J. Jarvik, S. Jayadev, Orpa Jean-Marie, V. Jobanputra, L. Karaviti, Jennifer A. Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, S. Kobren, I. Kohane, J. Kohler, S. Korrick, Mary Kozuira, D. Krakow, D. Krasnewich, Elijah Kravets, S. Lalani, Byron L. Lam, Christina Lam, Brendan C Lanpher, Ian R. Lanza, Kimberly Leblanc, Brendan Lee, R. Levitt, R. Lewis, Pengfei Liu, X. Z. Liu, N. Longo, S. Loo, J. Loscalzo, R. Maas, C. Macrae, Valerie V. Maduro, R. Mahoney, B. Mak, L. Mamounas, T. Manolio, Rong Mao, K. Maravilla, Ronit Marom, Gabor T. Marth, B. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, J. McCauley, A. McConkie-Rosell, A. McCray, E. McGee, H. Mefford, J. Merritt, M. Might, G. Mirzaa, E. Morava, P. Moretti, Mariko Nakano-Okuno, Stan F. Nelson, J. Newman, S. Nicholas, D. Nickerson, S. Nieves-Rodriguez, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, J. Phillips, J. Posey, L. Potocki, Barbara N. Pusey Swerdzewski, A. Quinlan, Deepak A. Rao, A. Raper, W. Raskind, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, M. Ruzhnikov, R. Sacco, J. Sampson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, D. Scott, C. R. Scott, V. Shashi, Jimann Shin, E. Silverman, J. Sinsheimer, Kathy Sisco, E. Smith, Kevin Scott Smith, Emily P Solem, L. Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, J. Stoler, Kathleen E Sullivan, J. Sullivan, A. Sun, S. Sutton, D. Sweetser, V. Sybert, H. Tabor, Q. Tan, Amelia L. M. Tan, M. Tekin, F. Telischi, Willa L Thorson, C. Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, A. Vanderver, Matt Velinder, D. Viskochil, T. Vogel, Colleen E. Wahl, M. Walker, Stephanie Wallace, N. Walley, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, P. Ward, D. Wegner, Monika Weisz Hubshman, M. Wener, Tara Wenger, Katherine Wesseling Perry, M. Westerfield, M. Wheeler, Jordan H. Whitlock, L. Wolfe, Kim Worley, C. Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, S. Zuchner, S. Reichert, A. Thurm, D. Adams, S. Gorski, C. Boerkoel, W. Gahl, C. Tifft, M. Malicdan
3 2023
3
🐜