Guoyun Yu's Profile

Role	Title	Level	Year	L/R
🐜	Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts 242 auth. L. Frésard, Craig Smail, N. Ferraro, Nicole A. Teran, Xin Li, Kevin Scott Smith, D. Bonner, K. Kernohan, S. Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, J. Kohler, ... Diane B. Zastrow, Chloe M Reuter, D. Fisk, Megan E. Grove, Jean M. Davidson, T. Hartley, R. Joshi, B. Strober, Sowmi Utiramerur, D. Adams, A. Aday, Mercedes E. Alejandro, P. Allard, Euan A. Ashley, M. Azamian, C. Bacino, Eva Baker, A. Balasubramanyam, H. Barseghyan, Gabriel F. Batzli, A. Beggs, B. Behnam, H. Bellen, Jonathan A Bernstein, Gerard T. Berry, A. Bican, D. Bick, Camille L. Birch, D. Bonner, B. Boone, Bret L. Bostwick, Lauren C Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A Burke, L. Burrage, M. Butte, Shan Chen, G. Clark, T. Coakley, J. Cogan, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, M. Davids, Jean M. Davidson, J. Dayal, E. C. Dell’Angelica, S. Dhar, K. Dipple, Laurel A. Donnell-Fink, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, Annika M. Dries, Laura Duncan, D. Eckstein, Lisa T. Emrick, C. Eng, G. Enns, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, C. Ferreira, Elizabeth Fieg, P. Fisher, B. Fogel, Noah D. Friedman, W. Gahl, Emily Glanton, Rena A. Godfrey, A. Goldman, David B. Goldstein, Sarah E. Gould, J. Gourdine, C. Groden, A. Gropman, M. Haendel, Rizwana Hamid, N. Hanchard, F. High, I. Holm, J. Hom, Ellen M. Howerton, Yong Huang, Fariha Jamal, Yongjie Jiang, Jean M. Johnston, Angela L. Jones, L. Karaviti, D. Koeller, I. Kohane, J. Kohler, D. Krasnewich, S. Korrick, Mary E. Koziura, J. Krier, J. Kyle, S. Lalani, C. Lau, J. Lazar, Kimberly Leblanc, Brendan Lee, Hane Lee, Shawn E. Levy, R. Lewis, Sharyn A. Lincoln, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, Ronit Marom, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, Thomas May, A. McConkie-Rosell, Col Mccormack, A. McCray, Jason D. Merker, T. Metz, M. Might, P. Moretti, Marie Morimoto, J. Mulvihill, David R. Murdock, Jennifer Murphy, D. Muzny, M. Nehrebecky, Stan F. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, Jordan S. Orange, James P. Orengo, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, Loren D. M. Pena, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, Genecee Renteria, Chloe M Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, J. Sampson, S. Samson, K. Schoch, D. Scott, Lisa Shakachite, Prashant Sharma, V. Shashi, Rebecca H. Signer, E. Silverman, J. Sinsheimer, Kevin Scott Smith, Rebecca C. Spillmann, J. Stoler, N. Stong, J. Sullivan, D. Sweetser, Q. Tan, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, E. Vilain, T. Vogel, Daryl Waggott, Colleen E. Wahl, N. Walley, C. Walsh, M. Walker, Jijun Wan, M. Wangler, P. Ward, K. Waters, B. Webb-Robertson, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, E. Worthey, Shinya Yamamoto, John Yang, Yaping Yang, A. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Allison Zheng, Kym M. Alex Jacek Michael Dennis David Boycott MacKenzie Majewski Brudno Bulman Dyment, K. Boycott, A. MacKenzie, J. Majewski, M. Brudno, D. Bulman, D. Dyment, L. Lind, E. Ingelsson, A. Battle, G. Bejerano, Jonathan A Bernstein, Euan A. Ashley, K. Boycott, Jason D. Merker, M. Wheeler, S. Montgomery	7	2019	7 🐜
🐜	Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder 216 auth. M. Oláhová, W. Yoon, K. Thompson, Sharayu V. Jangam, Liliana Fernandez, Jean M. Davidson, J. Kyle, Megan E. Grove, D. Fisk, J. Kohler, Matthew Holmes, Annika M. Dries, Yong Huang, Chunli Zhao, K. Contrepois, ... Zachary Zappala, L. Frésard, Daryl Waggott, Erika M. Zink, Young-Mo Kim, H. Heyman, K. Stratton, B. Webb-Robertson, D. Adams, Mercedes E. Alejandro, P. Allard, M. Azamian, C. Bacino, A. Balasubramanyam, H. Barseghyan, Gabriel F. Batzli, A. Beggs, B. Behnam, A. Bican, D. Bick, Camille L. Birch, D. Bonner, B. Boone, Bret L. Bostwick, Lauren C Briere, Donna M. Brown, Matthew H. Brush, Elizabeth A Burke, L. Burrage, Shan Chen, G. Clark, T. Coakley, J. Cogan, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, M. Davids, J. Dayal, E. C. Dell’Angelica, S. Dhar, Ani Dillon, K. Dipple, Laurel A. Donnell-Fink, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, D. Eckstein, Lisa T. Emrick, C. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, C. Ferreira, B. Fogel, Noah D. Friedman, W. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, J. Gourdine, C. Groden, A. Gropman, M. Haendel, Rizwana Hamid, N. Hanchard, Lori H. Handley, Matthew R. Herzog, I. Holm, J. Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, I. Kohane, D. Krasnewich, Elizabeth L. Krieg, J. Krier, S. Lalani, C. Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, S. Levy, R. Lewis, Sharyn A. Lincoln, Allen Lipson, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, Ronit Marom, J. Martinez-Agosto, S. Marwaha, Thomas May, A. McConkie-Rosell, Col Mccormack, A. McCray, M. Might, P. Moretti, Marie Morimoto, J. Mulvihill, Jennifer Murphy, D. Muzny, M. Nehrebecky, Stan F. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, J. Orange, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, Loren D. M. Pena, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, C. Reuter, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, J. Sampson, S. Samson, K. Schoch, M. Schroeder, D. Scott, Prashant Sharma, V. Shashi, E. Silverman, J. Sinsheimer, Kevin S. Smith, Rebecca C. Spillmann, Kimberly Splinter, J. Stoler, N. Stong, J. Sullivan, D. Sweetser, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, Z. Valivullah, E. Vilain, T. Vogel, Colleen E. Wahl, N. Walley, C. Walsh, P. Ward, K. Waters, M. Westerfield, A. L. Wise, L. Wolfe, E. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Allison Zheng, M. Snyder, J. Merker, S. Montgomery, Paul G. Fisher, R. Feichtinger, J. Mayr, Julie Hall, I. Barbosa, M. Simpson, C. Deshpande, K. Waters, D. Koeller, T. Metz, A. Morris, S. Schelley, T. Cowan, Marisa W Friederich, R. Mcfarland, J. V. Van Hove, G. Enns, Shinya Yamamoto, E. Ashley, M. Wangler, R. Taylor, H. Bellen, Jonathan A. Bernstein, M. Wheeler	6	2018	6 🐜
🐜	A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network 189 auth. Rebecca C. Spillmann, A. McConkie-Rosell, L. Pena, Yong-hui Jiang, Christopher J. David R. Mercedes E. Patrick Euan A. Mashid S. Adams Adams Alejandro Allard Ashley Azamian Bacino, Christopher J. Adams, D. Adams, Mercedes E. Alejandro, P. Allard, E. Ashley, M. S. Azamian, C. Bacino, A. Balasubramanyam, H. Barseghyan, A. Beggs, ... H. Bellen, J. Bernstein, A. Bican, D. Bick, Camille L. Birch, B. Boone, Bret L. Bostwick, Lauren C Briere, Donna M. Brown, Matthew H. Brush, Elizabeth A Burke, L. Burrage, K. Chao, Shan Chen, G. Clark, J. Cogan, Cynthia M. Cooper, W. Craigen, M. Davids, J. Dayal, E. C. Dell’Angelica, S. Dhar, K. Dipple, Laurel A. Donnell-Fink, N. Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, D. Eckstein, Lisa T. Emrick, C. Eng, Cecilia Esteves, Tyra Estwick, P. Fisher, Trevor S. Frisby, K. Frost, W. Gahl, Valerie Gartner, Rena A. Godfrey, M. Goheen, Gretchen A. Golas, D. Goldstein, M. G. Gordon, Sarah E. Gould, J. Gourdine, B. Graham, C. Groden, A. Gropman, Mary E. Hackbarth, M. Haendel, R. Hamid, N. Hanchard, Lori H. Handley, I. Hardee, Matthew R. Herzog, I. Holm, Ellen M. Howerton, H. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Alanna E. Koehler, D. Koeller, I. Kohane, J. Kohler, D. Krasnewich, Elizabeth L. Krieg, J. Krier, J. Kyle, S. Lalani, Lea Latham, Yvonne L. Latour, C. Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Paul R. Lee, S. Levy, Denise J. Levy, R. Lewis, Adam P. Liebendorfer, Sharyn A. Lincoln, C. Loomis, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, P. Mazur, Alexandra J. McCarty, A. McConkie-Rosell, A. McCray, T. Metz, M. Might, P. Moretti, J. Mulvihill, Jennifer Murphy, D. Muzny, M. Nehrebecky, S. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, J. Orange, J. C. Pallais, C. Palmer, J. Papp, L. Pena, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, Rachel Robertson, Lance H Rodan, J. Rosenfeld, S. Sadozai, S. Samson, Katherine Schaffer, K. Schoch, M. Schroeder, D. Scott, Prashant Sharma, V. Shashi, E. Silverman, J. Sinsheimer, A. Soldatos, Rebecca C. Spillmann, Kimberly Splinter, J. Stoler, N. Stong, K. Strong, J. Sullivan, D. Sweetser, S. P. Thomas., C. Tifft, Nathanial J. Tolman, C. Toro, Alyssa A. Tran, Z. Valivullah, E. Vilain, T. Vogel, Daryl Waggott, Colleen E. Wahl, N. Walley, C. Walsh, M. Wangler, Mike Warburton, P. Ward, K. Waters, B. Webb-Robertson, A. Weech, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, E. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Jing Zhang, Patricia A. Zornio, K. Schoch, N. Walley, Camilla Sanders, J. Sullivan, S. Hooper, V. Shashi	6	2017	6 🐜
🐜	Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. 334 auth. Brett Johnson, Raman Kumar, Sabrina Oishi, S. Alexander, Maria A. Kasherman, M. S. Vega, A. Ivancevic, A. Gardner, Deepti Domingo, M. Corbett, Euan Parnell, Sehyoun Yoon, T. Oh, Matthew A Lines, Henrietta Lefroy, ... U. Kini, M. V. Van Allen, S. Grønborg, S. Mercier, S. Küry, S. Bézieau, L. Pasquier, M. Raynaud, A. Afenjar, T. Billette de Villemeur, B. Keren, J. Désir, L. Van Maldergem, M. Marangoni, N. Dikow, D. Koolen, Peter M. VanHasselt, M. Weiss, P. Zwijnenburg, J. Sá, C. Reis, C. López-Otín, Olaya Santiago-Fernández, A. Fernández-Jaén, A. Rauch, K. Steindl, P. Joset, A. Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, E. Zackai, C. Mcdougall, V. Narayanan, K. Ramsey, S. Mercimek‐Andrews, Loren D M Pena, V. Shashi, K. Schoch, J. Sullivan, F. Pinto e Vairo, P. Pichurin, Sarah A. Ewing, S. Barnett, E. Klee, M. Perry, M. Koenig, C. Keegan, J. Schuette, Stephanie B Asher, Yezmin Perilla-Young, Laurie D. Smith, J. Rosenfeld, E. Bhoj, P. Kaplan, Dong Li, R. Oegema, E. van Binsbergen, B. van der Zwaag, Marie F. Smeland, I. Cutcutache, M. Page, Martin Armstrong, A. Lin, Marcie A. Steeves, N. D. Hollander, M. Hoffer, Margot R. F. Reijnders, S. Demirdas, D. Koboldt, D. Bartholomew, T. M. Mosher, S. Hickey, Christine Shieh, P. Sanchez-Lara, J. Graham, K. Tezcan, G. Schaefer, Noelle R Danylchuk, A. Asamoah, K. Jackson, Naomi Yachelevich, M. Au, Luis A. Pérez-Jurado, T. Kleefstra, P. Penzes, S. Wood, Thomas H. J. Burne, T. Pierson, M. Piper, J. Gécz, L. Jolly, M. Acosta, D. Adams, A. Aday, Mercedes E. Alejandro, P. Allard, E. Ashley, M. Azamian, C. Bacino, G. Bademci, E. Baker, A. Balasubramanyam, Dustin Baldridge, D. Barbouth, Gabriel F. Batzli, A. Beggs, H. Bellen, J. Bernstein, G. Berry, A. Bican, D. Bick, Camille L. Birch, Stephanie A Bivona, Carsten Bonnenmann, D. Bonner, B. Boone, Bret L. Bostwick, Lauren C Briere, Elly Brokamp, Donna M. Brown, Matthew H. Brush, Elizabeth A Burke, L. Burrage, M. Butte, 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, S. Dasari, M. Davids, Jean M. Davidson, J. Dayal, E. C. Dell’Angelica, S. Dhar, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, Annika M. Dries, Laura Duncan, D. Eckstein, Lisa T. Emrick, C. Eng, G. Enns, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, C. Ferreira, Elizabeth Fieg, P. Fisher, B. Fogel, I. Forghani, Noah D. Friedman, W. Gahl, Rena A. Godfrey, A. Goldman, David B. Goldstein, J. Gourdine, A. Grajewski, C. Groden, A. Gropman, M. Haendel, R. Hamid, N. Hanchard, F. High, I. Holm, J. Hom, Alden Huang, Yong Huang, R. Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, L. Karaviti, Emily G. Kelley, 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, C. Lau, Jozef Lazar, Kimberly Leblanc, Brendan H. Lee, Hane Lee, R. Levitt, S. Levy, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Liu, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, Ronit Marom, Martín G. Martín, J. Martinez-Agosto, S. Marwaha, Thomas May, J. McCauley, A. McConkie-Rosell, Col Mccormack, A. McCray, J. Merker, T. Metz, M. Might, Eva Morava-Kozicz, P. Moretti, Marie Morimoto, J. Mulvihill, David R. Murdock, A. Nath, S. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, D. Oglesbee, James P. Orengo, S. Pak, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, Genecee Renteri, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, R. Rowley, R. Sacco, J. Sampson, S. Samson, M. Saporta, J. Schaechter, T. Schedl, D. Scott, Lisa Shakachite, Prashant Sharma, K. Shields, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, E. Silverman, J. Sinsheimer, Kevin S. Smith, L. Solnica-Krezel, Rebecca C. Spillmann, J. Stoler, N. Stong, D. Sweetser, Cecelia P. Tamburro, Q. Tan, M. Tekin, F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, T. Vogel, Daryl Waggott, Colleen E. Wahl, N. Walley, C. Walsh, M. Walker, J. Wambach, Jijun Wan, Lee-Kai Wang, M. Wangler, P. Ward, K. 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. Zuchner, W. Gahl	5	2019	5 🐜
🐜	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 🐜
🐜	Characteristics of undiagnosed diseases network applicants: implications for referring providers 198 auth. N. Walley, Loren D. M. Pena, S. Hooper, H. Cope, Yong-hui Jiang, A. McConkie-Rosell, Camilla Sanders, K. Schoch, Rebecca C. Spillmann, K. Strong, A. McCray, P. Mazur, Cecilia Esteves, Kimberly Leblanc, D. Adams, ... Mercedes E. Alejandro, P. Allard, E. Ashley, M. Azamian, C. Bacino, A. Balasubramanyam, H. Barseghyan, Gabriel F. Batzli, A. Beggs, H. Bellen, J. Bernstein, A. Bican, D. Bick, Camille L. Birch, D. Bonner, B. Boone, Bret L. Bostwick, Lauren C Briere, Donna M. Brown, Matthew H. Brush, Elizabeth A Burke, L. Burrage, Shan Chen, G. Clark, T. Coakley, J. Cogan, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, M. Davids, Jean M. Davidson, J. Dayal, E. C. Dell’Angelica, S. Dhar, Ani Dillon, K. Dipple, Laurel A. Donnell-Fink, N. Dorrani, Daniel C. Dorset, E. Douine, David D. Draper, Annika M. Dries, D. Eckstein, Lisa T. Emrick, C. Eng, G. Enns, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, P. Fisher, B. Fogel, Noah D. Friedman, W. Gahl, Emily Glanton, Rena A. Godfrey, D. Goldstein, Sarah E. Gould, J. Gourdine, C. Groden, A. Gropman, M. Haendel, R. Hamid, N. Hanchard, Lori H. Handley, Matthew R. Herzog, I. Holm, J. Hom, Ellen M. Howerton, Yong Huang, H. Jacob, Mahim Jain, Yongjie Jiang, Jean M. Johnston, Angela L. Jones, D. Koeller, I. Kohane, J. Kohler, D. Krasnewich, Elizabeth L. Krieg, J. Krier, J. Kyle, S. Lalani, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, S. Levy, R. Lewis, Sharyn A. Lincoln, Allen Lipson, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, Ronit Marom, J. Martinez-Agosto, S. Marwaha, Thomas May, A. McConkie-Rosell, Col Mccormack, A. McCray, J. Merker, T. Metz, M. Might, P. Moretti, J. Mulvihill, Jennifer Murphy, D. Muzny, M. Nehrebecky, S. Nelson, J. Scott Newberry, J. Newman, S. Nicholas, Donna Novacic, J. Orange, J. Carl Pallais, C. Palmer, J. Papp, Neil H. Parker, Loren D M Pena, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, C. Reuter, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, J. Sampson, S. Samson, K. Schoch, M. Schroeder, D. Scott, Prashant Sharma, V. Shashi, E. Silverman, J. Sinsheimer, Kevin S. Smith, A. Soldatos, Rebecca C. Spillmann, Kimberly Leblanc, J. Stoler, N. Stong, J. Sullivan, D. Sweetser, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, Z. Valivullah, E. Vilain, T. Vogel, Daryl Waggott, Colleen E. Wahl, N. Walley, C. Walsh, M. Wangler, P. Ward, K. Waters, B. Webb-Robertson, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, E. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Allison Zheng, A. L. Wise, V. Shashi	4	2018	4 🐜
🐜	Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. 324 auth. Pauline E Schneeberger, F. Kortüm, G. Korenke, M. Alawi, R. Santer, M. Woidy, D. Buhas, S. Fox, J. Juusola, M. Alfadhel, B. Webb, Emanuele G Coci, R. Abou Jamra, M. Siekmeyer, S. Biskup, ... Corina Heller, E. Maier, Poupak Javaher-Haghighi, M. Bedeschi, P. Ajmone, M. Iascone, H. Peeters, K. Ballon, J. Jaeken, Aroa Rodríguez Alonso, M. Palomares-Bralo, F. Santos-Simarro, M. Meuwissen, D. Beysen, R. Kooy, H. Houlden, D. Murphy, M. Doosti, E. G. Karimiani, M. Mojarrad, R. Maroofian, Lenka Nosková, S. Kmoch, T. Honzík, H. Cope, Amarilis Sanchez-Valle, M. Acosta, M. Adam, D. Adams, P. Agrawal, Mercedes E. Alejandro, J. Alvey, L. Amendola, A. Andrews, E. Ashley, M. Azamian, C. Bacino, G. Bademci, E. Baker, A. Balasubramanyam, Dustin Baldridge, Jim Bale, M. Bamshad, D. Barbouth, Gabriel F. Batzli, P. Bayrak-Toydemir, A. Beck, A. Beggs, Edward Behrens, G. Bejerano, J. Bennet, Beverly Berg-Rood, R. Bernier, J. Bernstein, G. Berry, A. Bican, Stephanie A Bivona, 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, P. Byers, William E. Byrd, J. Carey, O. Carrasquillo, T. C. Chang, S. Chanprasert, Hsiao-Tuan Chao, G. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, F. S. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, S. Dasari, M. Davids, J. Dayal, M. Deardorff, E. C. Dell’Angelica, S. Dhar, K. Dipple, Dan Doherty, N. Dorrani, E. Douine, David D. Draper, Laura Duncan, D. Earl, D. Eckstein, Lisa T. Emrick, C. Eng, Cecilia Esteves, Tyra Estwick, Marni J. Falk, Liliana Fernandez, C. Ferreira, Elizabeth Fieg, P. Fisher, B. Fogel, I. Forghani, L. Frésard, W. Gahl, I. Glass, Rena A. Godfrey, Katie Golden-Grant, A. Goldman, D. Goldstein, A. Grajewski, C. Groden, A. Gropman, Irma Gutierrez, S. Hahn, R. Hamid, N. Hanchard, Kelly Hassey, Nichole Hayes, F. High, A. Hing, F. Hisama, I. Holm, J. Hom, M. Horike‐Pyne, Alden Huang, Yong Huang, R. Isasi, Fariha Jamal, G. Jarvik, J. Jarvik, S. Jayadev, Jean M. Johnston, L. Karaviti, Emily G. Kelley, Jennifer A. Kennedy, Dana Kiley, I. Kohane, J. Kohler, D. 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. Christopher Lau, Kimberly Leblanc, Brendan H. Lee, Hane Lee, R. Levitt, R. Lewis, Sharyn A. Lincoln, Pengfei Liu, X. Liu, N. Longo, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, 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, Eva Morava-Kozicz, P. Moretti, Marie Morimoto, J. Mulvihill, David R. Murdock, Mariko Nakano-Okuno, A. Nath, S. Nelson, J. Newman, S. Nicholas, D. Nickerson, Donna Novacic, D. Oglesbee, James P. Orengo, Laura Pace, S. Pak, J. Carl Pallais, C. Palmer, J. Papp, Neil H. Parker, J. Phillips, J. Posey, L. Potocki, Barbara N. Pusey, A. Quinlan, W. Raskind, A. Raja, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, Natalie Rosenwasser, R. Rowley, M. Ruzhnikov, R. Sacco, J. Sampson, S. Samson, M. Saporta, C. R. Scott, J. Schaechter, T. Schedl, K. Schoch, D. Scott, Prashant Sharma, V. Shashi, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, E. Silverman, J. Sinsheimer, Kathy Sisco, E. Smith, Kevin S. Smith, Emily P Solem, L. Solnica-Krezel, Rebecca C. Spillmann, J. Stoler, N. Stong, J. Sullivan, K. Sullivan, A. Sun, S. Sutton, D. Sweetser, V. Sybert, H. Tabor, Cecelia P. Tamburro, Q. Tan, M. Tekin, F. Telischi, Willa L Thorson, C. Tifft, C. Toro, Alyssa A. Tran, Brian M. Tucker, Tiina K. Urv, A. Vanderver, Matt Velinder, D. Viskochil, T. Vogel, Colleen E. Wahl, Stephanie Wallace, N. Walley, C. Walsh, Melissa Walker, 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, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, S. Zuchner, B. Gelb, I. Kurth, M. Hempel, K. Kutsche	4	2020	4 🐜
🐜	TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system 238 auth. Shyam K. Akula, Jack H. Marciano, Youngshin Lim, David Exposito-Alonso, Norma K. Hylton, Grace H. Hwang, Jennifer E. Neil, Nicole Dominado, R. Bunton-Stasyshyn, J. Song, Maya Talukdar, A. Schmid, L. Teboul, Alisa Mo, Taehwan Shin, ... Benjamin Finander, Samantha G. Beck, Rebecca C. Yeh, Aoi Otani, Xuyu Qian, Ellen M. DeGennaro, F. Alkuraya, S. Maddirevula, G. Cascino, C. Giannini, L. Burrage, Jill A Rosenfield, Shamika Ketkar, G. Clark, C. Bacino, R. Lewis, R. Segal, J. Bazan, Kelly A. Smith, Jeffrey A. Golden, Ginam Cho, Christopher A. Walsh, D. Adams, A. Aday, Mercedes E. Alejandro, P. Allard, Euan A. Ashley, M. Azamian, C. Bacino, Eva Baker, A. Balasubramanyam, H. Barseghyan, Gabriel F. Batzli, A. Beggs, B. Behnam, H. Bellen, Jonathan A. Bernstein, Gerard T. Berry, A. Bican, D. Bick, Camille L. Birch, D. Bonner, B. Boone, Bret L. Bostwick, Lauren C Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A Burke, L. Burrage, M. Butte, Shan Chen, G. Clark, T. Coakley, Laurel A. Cobban, J. Cogan, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, Precilla D’Souza, M. Davids, Jean M. Davidson, J. Dayal, E. C. Dell’Angelica, S. Dhar, K. Dipple, N. Dorrani, Daniel C. Dorset, J. Douglas, E. Douine, David D. Draper, Annika M. Dries, D. Eckstein, Lisa T. Emrick, C. Eng, G. Enns, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, C. Ferreira, Elizabeth Fieg, P. Fisher, B. Fogel, Noah D. Friedman, W. Gahl, Rena A. Godfrey, A. Goldman, David B. Goldstein, Sarah E. Gould, J. Gourdine, C. Groden, A. Gropman, M. Haendel, Rizwana Hamid, N. Hanchard, F. High, I. Holm, J. Hom, Ellen M. Howerton, Yong Huang, Fariha Jamal, Yongjie Jiang, Jean M. Johnston, Angela L. Jones, L. Karaviti, Emily G. Kelley, D. Koeller, I. Kohane, J. Kohler, S. Korrick, Mary Kozuira, D. Krasnewich, J. Krier, J. Kyle, S. Lalani, C. Lau, J. Lazar, Kimberly Leblanc, Brendan Lee, Hane Lee, Shawn E. Levy, R. Lewis, S. Loo, J. Loscalzo, R. Maas, Ellen F. Macnamara, C. Macrae, Valerie V. Maduro, Marta M. Majcherska, M. Malicdan, L. Mamounas, T. Manolio, T. Markello, Ronit Marom, Martin G. Martin, J. Martinez-Agosto, S. Marwaha, Thomas May, A. McConkie-Rosell, Col Mccormack, A. McCray, J. Merker, T. Metz, M. Might, G. Mochida, P. Moretti, Marie Morimoto, J. Mulvihill, David R. Murdock, Jennifer Murphy, D. Muzny, M. Nehrebecky, Stan F. Nelson, J. S. Newberry, J. Newman, S. Nicholas, Donna Novacic, J. Orange, James P. Orengo, J. C. Pallais, C. Palmer, J. Papp, Neil H. Parker, Loren D. M. Pena, J. Phillips, J. Posey, J. Postlethwait, L. Potocki, Barbara N. Pusey, Genecee Renteria, C. Reuter, Lynette C Rives, Amy K. Robertson, Lance H Rodan, J. Rosenfeld, J. Sampson, S. Samson, K. Schoch, D. Scott, Lisa Shakachite, Prashant Sharma, V. Shashi, Rebecca H. Signer, E. Silverman, J. Sinsheimer, Kevin Scott Smith, Rebecca C. Spillmann, J. Stoler, N. Stong, J. Sullivan, D. Sweetser, Q. Tan, Wen‐Han Tan, C. Tifft, C. Toro, Alyssa A. Tran, Tiina K. Urv, E. Vilain, T. Vogel, Daryl Waggott, Colleen E. Wahl, M. Walker, N. Walley, Jijun Wan, M. Wangler, P. Ward, K. Waters, B. Webb-Robertson, M. Westerfield, M. Wheeler, A. L. Wise, L. Wolfe, E. Worthey, Shinya Yamamoto, Yaping Yang, John Yang, A. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Allison Zheng	3	2023	3 🐜
🐜	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 🐜