Dave Viskochil's Profile

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 🐜
🐜	Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene 17 auth. Meena Balasubramanian, H. Lord, Sébastien Lévesque, H. Guturu, Fanny Thuriot, Guillaume Sillon, Aaron M. Wenger, Dimple Sureka, Tracy Lester, Diana Johnson, ... J. Bowen, Amy R. U. L. Calhoun, Dave Viskochil, D. Study, G. Bejerano, Jon A. Bernstein, D. Chitayat	4	2016	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 🐜
🐜	A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. 313 auth. M. Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A. Rosenfeld, Vanesa C Lerma, Alyssa A. Tran, Megan A Longley, R. Lewis, M. Weisz-Hubshman, M. Bekheirnia, N. Bekheirnia, Lauren Massingham, M. Zech, ... Matias Wagner, H. Engels, K. Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, M. J. Guillen Sacoto, Richard A. Person, P. P. McDonnell, Stacey R Cohen, Laina Lusk, A. Cohen, J. Le Pichon, T. Pastinen, Dihong Zhou, Kendra L. Engleman, C. Racine, Laurence Faivre, S. Moutton, A. Denommé-Pichon, Hyun Yong Koh, A. Poduri, J. Bolton, C. Knopp, Dong Sun Julia Suh, Andrea Maier, M. B. Toosi, E. G. Karimiani, R. Maroofian, G. B. Schaefer, Vijayalakshmi Ramakumaran, P. Vasudevan, C. Prasad, M. Osmond, S. Schuhmann, G. Vasileiou, Sophie J Russ-Hall, Ingrid E. Scheffer, G. Carvill, H. Mefford, C. Bacino, Brendan Lee, Hsiao-Tuan Chao, Maria T. Acosta, Margaret P. Adam, David R. Adams, Raquel L. Alvarez, J. Alvey, L. Amendola, A. Andrews, Euan A. Ashley, G. Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, D. Barbouth, P. Bayrak-Toydemir, Anita 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, Elizabeth E. Blue, J. Bohnsack, D. Bonner, L. Botto, Brenna Boyd, Lauren C Briere, Gabrielle Brown, Elizabeth A Burke, Lindsay C Burrage, M. Butte, Peter Byers, William E. Byrd, J. Carey, O. Carrasquillo, T. Cassini, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, Ivan Chinn, Gary D. Clark, T. Coakley, Laurel A. Cobban, Joy D. Cogan, M. Coggins, F. S. Cole, H. Colley, H. Cope, Rosario I. Corona, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, J. Dayal, E. C. Dell’Angelica, Katrina M. Dipple, Dan Doherty, N. Dorrani, A. Doss, E. Douine, D. Earl, D. Eckstein, Lisa T. Emrick, Christine M. Eng, Marni Falk, Elizabeth Fieg, Paul G Fisher, B. L. Fogel, I. Forghani, William A. Gahl, Ian A. Glass, Bernadette L. Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden-Grant, A. Grajewski, Don Hadley, S. Hahn, Meghan C Halley, Rizwana Hamid, Kelly Hassey, Nichole Hayes, Frances High, A. Hing, F. Hisama, Ingrid A. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Sally Hutchison, W. Introne, Rosario Isasi, K. Izumi, Fariha Jamal, Gail P. Jarvik, J. Jarvik, S. Jayadev, Orpa Jean-Marie, V. Jobanputra, L. Karaviti, Shamika Ketkar, Dana Kiley, Gonench Kilich, S. Kobren, I. Kohane, J. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, D. Krasnewich, Elijah Kravets, S. Lalani, Byron L. Lam, Christina Lam, Brendan C Lanpher, Ian R. Lanza, Kimberly Leblanc, Roy Levitt, Pengfei Liu, X. Z. Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, A. Maghiro, R. Mahoney, M. Malicdan, L. Mamounas, T. Manolio, Rong Mao, K. Maravilla, Ronit Marom, Gabor T. Marth, Beth A. Martin, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, J. McCauley, A. McConkie-Rosell, Alexa T McCray, E. McGee, J. L. Merritt, M. Might, G. Mirzaa, Eva Morava, Paolo M. Moretti, John J. Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, J. Newman, Sarah K. Nicholas, Deborah A. Nickerson, S. Nieves-Rodriguez, 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, L. Potocki, Barbara N. Pusey Swerdzewski, Aaron Quinlan, Deepak A. Rao, A. Raper, Wendy Raskind, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, Natalie Rosenwasser, Francis Rossignol, M. Ruzhnikov, R. Sacco, J. Sampson, M. Saporta, J. Schaechter, Timothy Schedl, K. Schoch, Daryl A. Scott, C. R. Scott, Elaine Seto, V. Shashi, Jimann Shin, Edwin K. Silverman, J. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin Scott Smith, L. Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen E Sullivan, J. Sullivan, Angela Sun, S. Sutton, D. Sweetser, Virginia Sybert, H. Tabor, Q. Tan, Amelia L. M. Tan, Arjun Tarakad, M. Tekin, Fred F. Telischi, Willa L Thorson, C. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, A. Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, N. Walley, Jennifer A. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, Patricia A. Ward, D. Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, M. Westerfield, M. Wheeler, Jordan H. Whitlock, L. Wolfe, Kim C. Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, S. Zuchner	2	2024	2 🐜
🐜	Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. 390 auth. L. Jeffries, E. Mis, K. McWalter, S. Donkervoort, Nina N. Brodsky, Jean-Marie Carpier, W. Ji, Cristian Ionita, Bhaskar Roy, Jon S. Morrow, A. Darbinyan, Krishna Iyer, R. Aul, S. Banka, Katherine R. Chao, ... L. Cobbold, Stacey R Cohen, H. M. Custodio, M. Drummond-Borg, F. Elmslie, E. Finanger, B. Hainline, I. Helbig, S. Hewson, Ying Hu, Adam Jackson, D. Josifova, M. Konstantino, M. Leach, B. Mak, David McCormick, E. McGee, Stanley F. Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, H. Goodkin, Elizabeth R. Roeder, Sani Roy, Katie Sapp, Dimah N. Saade, S. Sisodiya, K. Stals, Shelley Towner, William Wilson, Mustafa K. Khokha, Carsten G. Bönnemann, Carrie L. Lucas, S. Lakhani, Maria T. Acosta, Margaret P. Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, 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, P. Bayrak-Toydemir, Anita Beck, A. Beggs, Edward Behrens, G. Bejerano, J. Bennet, 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, Lindsay C Burrage, M. Butte, Peter Byers, William E. Byrd, J. Carey, O. Carrasquillo, Ta Chen Peter Chang, S. Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, T. Coakley, Laurel A. Cobban, Joy D. Cogan, M. Coggins, F. S. Cole, H. Colley, Cynthia M. Cooper, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, M. Davids, J. Dayal, Matthew Deardorff, 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, Marni Falk, Liliana Fernandez, Carlos R. Ferreira, Elizabeth Fieg, Laurie C. Findley, 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, Irma Gutierrez, S. Hahn, Rizwana Hamid, N. Hanchard, Kelly Hassey, 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, Jean M. Johnston, L. Karaviti, Emily G. Kelley, Jennifer Kennedy, Dana Kiley, Isaac S. Kohane, J. Kohler, Deborah Krakow, D. Krasnewich, Elijah Kravets, S. 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, May Christine V. 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, Col Mccormack, A. McCray, H. Mefford, J. L. Merritt, M. Might, G. Mirzaa, Eva Morava, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Mariko Nakano-Okuno, A. Nath, Stanley F. Nelson, J. Newman, Sarah K. Nicholas, Deborah A. Nickerson, S. Nieves-Rodriguez, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, Stephen C Pak, J. C. Pallais, J. Papp, Neil H. Parker, John A. Phillips, J. Posey, L. Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, A. Raja, Deepak A. Rao, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, M. Ruzhnikov, R. Sacco, J. Sampson, Susan L. Samson, M. Saporta, C. R. Scott, J. Schaechter, Timothy Schedl, Daryl A. Scott, Prashant Sharma, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, J. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin Scott Smith, Emily P Solem, L. Solnica-Krezel, J. Stoler, N. Stong, J. Sullivan, Angela Sun, S. Sutton, D. Sweetser, Virginia Sybert, H. Tabor, Cecelia P. Tamburro, M. Tekin, Fred F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Brian M. Tucker, Tiina K. Urv, A. Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P Vogel, Colleen E. Wahl, Stephanie E Wallace, N. Walley, C. Walsh, Melissa Walker, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, Patricia A. Ward, D. Wegner, Mark Wener, Tara Wenger, K. W. Perry, M. Westerfield, M. Wheeler, Jordan H. Whitlock, L. Wolfe, Jeremy D Woods, Shinya Yamamoto, John Yang, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, S. Zuchner, J. Ambrose, P. Arumugam, E. Baple, M. Bleda, F. Boardman-Pretty, J. Boissiere, C. Boustred, M. Caulfield, G. Chan, C. Craig, L. Daugherty, A. de Burca, A. Devereau, G. Elgar, R. Foulger, T. Fowler, P. FurióTarí, J. Hackett, D. Halai, A. Hamblin, S. Henderson, J. Holman, T. Hubbard, K. Ibañez, R. Jackson, L. J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S. Leigh, I. Leong, F. J. Lopez, F. MaleadyCrowe, J. Mason, E. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A. Need, C. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. R. Smith, A. Sosinsky, W. Spooner, H. E. Stevens, A. Stuckey, R. Sultana, E. Thomas, S. Thompson, A. Tucci, E. Walsh, S. Watters, M. Welland, E. Williams, K. Witkowska	2	2023	2 🐜