Cecilia Esteves's Profile

Role	Title	Level	Year	L/R
🐜	Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease 37 auth. Kimberly Splinter, D. Adams, C. Bacino, H. Bellen, J. Bernstein, Alys M Cheatle-Jarvela, C. Eng, Cecilia Esteves, W. Gahl, R. Hamid, H. Jacob, B. Kikani, D. Koeller, I. Kohane, Brendan H. Lee, ... J. Loscalzo, Xi Luo, A. McCray, T. Metz, J. Mulvihill, S. Nelson, C. Palmer, J. Phillips, L. Pick, J. Postlethwait, C. Reuter, V. Shashi, D. Sweetser, C. Tifft, N. Walley, M. Wangler, M. Westerfield, M. Wheeler, A. L. Wise, E. Worthey, Shinya Yamamoto, E. Ashley	8	2018	8 🐜
🐜	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 🐜
🐜	Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision 298 auth. Dustin Baldridge, M. Wangler, Angela N. Bowman, Shinya Yamamoto, 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, P. Bayrak-Toydemir, A. Beck, A. Beggs, Edward Behrens, G. Bejerano, J. Bennet, Beverly Berg-Rood, J. Bernstein, G. Berry, A. Bican, Stephanie A Bivona, E. Blue, J. Bohnsack, Carsten Bonnenmann, D. Bonner, L. Botto, Brennan M. 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, M. Coggins, F. S. Cole, H. Colley, Cynthia M. Cooper, H. Cope, W. Craigen, A. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, S. Dasari, Joie N. Davis, J. Dayal, M. Deardorff, E. C. Dell’Angelica, S. Dhar, K. Dipple, D. 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, D. Goldstein, A. Grajewski, C. Groden, 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, Laryssa A. Huryn, R. Isasi, Fariha Jamal, G. Jarvik, J. Jarvik, S. Jayadev, L. Karaviti, Jennifer A. Kennedy, Dana Kiley, S. Kobren, I. Kohane, J. Kohler, D. Krakow, D. Krasnewich, Elijah Kravets, S. Korrick, Mary E. Koziura, J. Krier, S. Lalani, Byron L. Lam, Christina Lam, Grace L. LaMoure, 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. Liu, N. Longo, S. Loo, J. Loscalzo, R. Maas, J. Macdowall, Ellen F. Macnamara, C. Macrae, 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, P. Moretti, Deborah Mosbrook-Davis, J. Mulvihill, David R. Murdock, A. Nagy, Mariko Nakano-Okuno, A. Nath, S. 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, W. Raskind, A. Raja, Deepak A. Rao, 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, C. R. Scott, J. Schaechter, Timothy Schedl, K. Schoch, 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, K. 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, S. 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, Muhammad Yousef, Diane B. Zastrow, W. Zein, Chunli Zhao, S. Zuchner, Timothy Schedl, Stephen C Pak, J. Postlethwait, Jimann Shin, L. Solnica-Krezel, H. Bellen, M. Westerfield	5	2021	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 🐜
🐜	An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids 331 auth. S. Ferdinandusse, K. McWalter, H. te Brinke, L. Ijlst, Petra M. Mooijer, J. Ruiter, A. V. van Lint, Mia L. Pras-Raves, E. Wever, F. Millan, M. J. Guillen Sacoto, Amber Begtrup, M. Tarnopolsky, L. Brady, R. Ladda, ... S. Sell, C. Nowak, J. Douglas, Cuixia Tian, E. Ulm, Seth Perlman, A. Drack, K. Chong, N. Martin, Jennifer A. Brault, Elly Brokamp, C. Toro, W. Gahl, Ellen F. Macnamara, L. Wolfe, Mercedes E. Alejandro, M. Azamian, C. Bacino, A. Balasubramanyam, L. Burrage, Hsiao-Tuan Chao, G. Clark, W. Craigen, Hongzheng Dai, S. Dhar, Lisa T. Emrick, A. Goldman, N. Hanchard, Fariha Jamal, L. Karaviti, S. Lalani, Brendan H. Lee, R. Lewis, Ronit Marom, Paolo M. Moretti, David R. Murdock, S. Nicholas, James P. Orengo, J. Posey, L. Potocki, J. Rosenfeld, S. Samson, D. Scott, Alyssa A. Tran, T. Vogel, M. Wangler, Shinya Yamamoto, C. Eng, Pengfei Liu, P. Ward, Edward Behrens, M. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen E Sullivan, A. Vanderver, David B. Goldstein, H. Cope, A. McConkie-Rosell, K. Schoch, V. Shashi, E. Smith, Rebecca C. Spillmann, J. Sullivan, Q. Tan, N. Walley, P. Agrawal, A. Beggs, Gerard T. Berry, Lauren C Briere, Laurel A. Cobban, M. Coggins, Cynthia M. Cooper, Elizabeth Fieg, F. High, I. Holm, S. Korrick, J. Krier, Sharyn A. Lincoln, J. Loscalzo, R. Maas, C. Macrae, J. C. Pallais, Deepak A. Rao, Lance H Rodan, E. Silverman, J. Stoler, D. Sweetser, M. Walker, C. Walsh, Cecilia Esteves, Emily G. Kelley, I. Kohane, Kimberly Leblanc, A. McCray, Anna Nagy, Surendra Dasari, Brendan C Lanpher, Ian R. Lanza, E. Morava, D. Oglesbee, G. Bademci, D. Barbouth, Stephanie A Bivona, O. Carrasquillo, Tamayo Chang, I. Forghani, A. Grajewski, R. Isasi, Byron L. Lam, R. Levitt, X. Z. Liu, J. McCauley, R. Sacco, M. Saporta, J. Schaechter, M. Tekin, F. Telischi, Willa L Thorson, S. Zuchner, H. Colley, J. Dayal, D. Eckstein, Laurie C. Findley, D. Krasnewich, L. Mamounas, T. Manolio, J. Mulvihill, Grace L. LaMoure, Madison Goldrich, Tiina K. Urv, A. Doss, M. Acosta, Carsten Bonnenmann, Precilla D’Souza, David D. Draper, C. Ferreira, Rena A. Godfrey, C. Groden, Ellen F. Macnamara, Valerie V. Maduro, T. Markello, A. Nath, Donna Novacic, Barbara N. Pusey, C. Toro, Colleen E. Wahl, Eva Baker, Elizabeth A Burke, D. Adams, W. Gahl, M. Malicdan, C. Tifft, L. Wolfe, John Yang, Bradley Power, B. Gochuico, Laryssa A. Huryn, Lea Latham, Joie N. Davis, Deborah Mosbrook-Davis, Francis Rossignol, Ben Solomon, J. Macdowall, A. Thurm, W. Zein, Muhammad Yousef, M. Adam, L. Amendola, M. Bamshad, A. Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth E. Blue, Brenna Boyd, Peter Byers, S. Chanprasert, Michael Cunningham, K. Dipple, Dan Doherty, D. Earl, I. Glass, Katie Golden-Grant, S. Hahn, A. Hing, F. Hisama, M. Horike‐Pyne, G. Jarvik, J. Jarvik, S. Jayadev, Christina Lam, K. Maravilla, H. Mefford, J. Merritt, G. Mirzaa, D. Nickerson, W. Raskind, Natalie Rosenwasser, C. R. Scott, A. Sun, V. Sybert, Stephanie Wallace, M. Wener, Tara Wenger, Euan A. Ashley, G. Bejerano, Jonathan A. Bernstein, D. Bonner, T. Coakley, Liliana Fernandez, P. Fisher, L. Frésard, J. Hom, Yong Huang, J. Kohler, Elijah Kravets, Marta M. Majcherska, B. Martin, S. Marwaha, Col Mccormack, A. Raja, C. Reuter, M. Ruzhnikov, J. Sampson, Kevin S. Smith, S. Sutton, H. Tabor, Brian M. Tucker, M. Wheeler, Diane B. Zastrow, Chunli Zhao, William E. Byrd, A. Crouse, M. Might, Mariko Nakano-Okuno, Jordan H. Whitlock, Gabrielle Brown, M. Butte, E. C. Dell’Angelica, N. Dorrani, E. Douine, B. Fogel, Irma Gutierrez, Alden Huang, D. Krakow, Hane Lee, S. Loo, B. Mak, Martín G. Martín, J. Martinez-Agosto, E. McGee, Stan F. Nelson, S. Nieves-Rodriguez, C. Palmer, J. Papp, Neil H. Parker, Genecee Renteria, Rebecca H. Signer, J. Sinsheimer, Jijun Wan, Lee-Kai Wang, K. W. Perry, Jeremy D Woods, J. Alvey, A. Andrews, Jim Bale, J. Bohnsack, L. Botto, J. Carey, Laura Pace, N. Longo, Gabor T. Marth, P. Moretti, A. Quinlan, Matt Velinder, D. Viskochil, P. Bayrak-Toydemir, R. Mao, M. Westerfield, A. Bican, Elly Brokamp, Laura Duncan, Rizwana Hamid, Jennifer A. Kennedy, Mary Kozuira, J. Newman, J. Phillips, Lynette C Rives, Amy K. Robertson, Emily P Solem, J. Cogan, F. Cole, Nichole Hayes, Dana Kiley, Kathy Sisco, J. Wambach, D. Wegner, Dustin Baldridge, Stephen C Pak, T. Schedl, Jimann Shin, L. Solnica-Krezel, Q. Waisfisz, P. Zwijnenburg, A. Ziegler, M. Barth, Rosemarie Smith, S. Ellingwood, D. Gaebler-Spira, S. Bakhtiari, M. Kruer, A. V. van Kampen, R. Wanders, H. Waterham, D. Cassiman, F. Vaz	4	2020	4 🐜
🐜	Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science 318 auth. K. Schoch, Cecilia Esteves, A. Bican, Rebecca C. Spillmann, H. Cope, A. McConkie-Rosell, N. Walley, Liliana Fernandez, J. Kohler, D. Bonner, C. Reuter, N. Stong, John J. Mulvihill, Donna Novacic, L. Wolfe, ... Ayat Abdelbaki, Camilo Toro, C. Tifft, M. Malicdan, William Gahl, Pengfei Liu, J. Newman, David B. Goldstein, J. Hom, J. Sampson, M. Wheeler, Mercedes E. Alejandro, M. Azamian, C. Bacino, A. Balasubramanyam, L. Burrage, Hsiao-Tuan Chao, G. Clark, W. Craigen, Hongzheng Dai, S. Dhar, Lisa T. Emrick, A. Goldman, N. Hanchard, Fariha Jamal, L. Karaviti, S. Lalani, Brendan H. Lee, R. Lewis, Ronit Marom, Paolo M. Moretti, David R. Murdock, S. Nicholas, James P. Orengo, J. Posey, L. Potocki, J. Rosenfeld, S. Samson, D. Scott, Alyssa A. Tran, T. Vogel, M. Wangler, Shinya Yamamoto, C. Eng, Pengfei Liu, P. Ward, Edward Behrens, M. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen E Sullivan, A. Vanderver, David B. Goldstein, H. Cope, A. McConkie-Rosell, K. Schoch, V. Shashi, E. Smith, Rebecca C. Spillmann, J. Sullivan, Q. Tan, N. Walley, P. Agrawal, A. Beggs, Gerard T. Berry, Lauren C Briere, Laurel A. Cobban, M. Coggins, Cynthia M. Cooper, Elizabeth Fieg, F. High, I. Holm, S. Korrick, J. Krier, Sharyn A. Lincoln, J. Loscalzo, R. Maas, C. Macrae, J. C. Pallais, Deepak A. Rao, Lance H Rodan, E. Silverman, J. Stoler, D. Sweetser, M. Walker, C. Walsh, Cecilia Esteves, Emily G. Kelley, I. Kohane, Kimberly Leblanc, Alexa T McCray, Anna Nagy, Surendra Dasari, Brendan C Lanpher, Ian R. Lanza, E. Morava, D. Oglesbee, G. Bademci, D. Barbouth, Stephanie A Bivona, O. Carrasquillo, Tamayo Chang, I. Forghani, A. Grajewski, Rosario Isasi, Byron L. Lam, R. Levitt, X. Z. Liu, J. McCauley, R. Sacco, M. Saporta, J. Schaechter, M. Tekin, F. Telischi, Willa L Thorson, S. Zuchner, H. Colley, J. Dayal, D. Eckstein, Laurie C. Findley, D. Krasnewich, L. Mamounas, T. Manolio, John J. Mulvihill, Grace L. LaMoure, Madison Goldrich, Tiina K. Urv, A. Doss, M. Acosta, Carsten Bonnenmann, Precilla D’Souza, David D. Draper, C. Ferreira, Rena A. Godfrey, C. Groden, Ellen F. Macnamara, Valerie V. Maduro, T. Markello, A. Nath, Donna Novacic, Barbara N. Pusey, Camilo Toro, Colleen E. Wahl, Eva Baker, Elizabeth A Burke, David R. Adams, William Gahl, M. Malicdan, C. Tifft, L. Wolfe, John Yang, Bradley Power, Bernadette L. Gochuico, Laryssa A. Huryn, Lea Latham, Joie N. Davis, Deborah Mosbrook-Davis, Francis Rossignol, Ben Solomon, J. Macdowall, A. Thurm, W. Zein, Muhammad Yousef, M. Adam, L. Amendola, M. Bamshad, A. Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth E. Blue, Brenna Boyd, Peter Byers, S. Chanprasert, Michael Cunningham, K. Dipple, Dan Doherty, D. Earl, I. Glass, Katie Golden-Grant, S. Hahn, A. Hing, F. Hisama, M. Horike‐Pyne, G. Jarvik, J. Jarvik, S. Jayadev, Christina Lam, K. Maravilla, H. Mefford, J. Merritt, G. Mirzaa, D. Nickerson, W. Raskind, Natalie Rosenwasser, C. R. Scott, A. Sun, V. Sybert, Stephanie Wallace, M. Wener, Tara Wenger, Euan A. Ashley, G. Bejerano, Jonathan A Bernstein, D. Bonner, T. Coakley, Liliana Fernandez, P. Fisher, L. Frésard, J. Hom, Yong Huang, J. Kohler, Elijah Kravets, Marta M. Majcherska, B. Martin, S. Marwaha, Col Mccormack, A. Raja, C. Reuter, M. Ruzhnikov, J. Sampson, Kevin Scott Smith, S. Sutton, H. Tabor, Brian M. Tucker, M. Wheeler, Diane B. Zastrow, Chunli Zhao, William E. Byrd, A. Crouse, M. Might, Mariko Nakano-Okuno, Jordan H. Whitlock, Gabrielle Brown, M. Butte, E. C. Dell’Angelica, N. Dorrani, E. Douine, B. Fogel, Irma Gutierrez, Alden Huang, D. Krakow, Hane Lee, S. Loo, B. Mak, Martín G. Martín, J. Martinez-Agosto, E. McGee, Stan F. Nelson, S. Nieves-Rodriguez, C. Palmer, J. Papp, Neil H. Parker, Genecee Renteria, Rebecca H. Signer, J. Sinsheimer, Jijun Wan, Lee-Kai Wang, K. W. Perry, Jeremy D Woods, J. Alvey, A. Andrews, Jim Bale, J. Bohnsack, L. Botto, J. Carey, Laura Pace, N. Longo, Gabor T. Marth, Paolo M. Moretti, A. Quinlan, Matt Velinder, D. Viskochil, P. Bayrak-Toydemir, R. Mao, M. Westerfield, A. Bican, Elly Brokamp, Laura Duncan, Rizwana Hamid, Jennifer A. Kennedy, Mary Kozuira, J. Newman, J. Phillips, Lynette C Rives, Amy K. Robertson, Emily P Solem, Joy D. Cogan, F. Cole, Nichole Hayes, Dana Kiley, Kathy Sisco, J. Wambach, D. Wegner, Dustin Baldridge, Stephen C Pak, T. Schedl, Jimann Shin, L. Solnica-Krezel, Joy D. Cogan, Jonathan A Bernstein, David R. Adams, Alexa T McCray, V. Shashi	4	2020	4 🐜