Precilla D’Souza'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 🐜
🐜	Randomized, Controlled Trial of Intravenous Immunoglobulin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections. 10 auth. K. Williams, S. Swedo, C. Farmer, Heidi Grantz, Paul J Grant, Precilla D’Souza, ... R. Hommer, L. Katsovich, R. King, J. Leckman	6	2016	6 🐜
🐜	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 🐜
🐜	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 🐜
🐜	Disordered eating and food restrictions in children with PANDAS/PANS. 10 auth. Megan Toufexis, R. Hommer, D. Gerardi, Paul J Grant, Leah Rothschild, Precilla D’Souza, ... K. Williams, J. Leckman, S. Swedo, T. Murphy	5	2015	5 🐜
🐜	Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome 11 auth. K. Knapp, Rosie Sullivan, J. Murray, Gregory Gimenez, P. Arn, Precilla D’Souza, ... A. Gezdirici, W. Wilson, A. Jackson, C. Ferreira, L. Bicknell	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 🐜
🐜	Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2 13 auth. Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul R. Lee, G. Vezina, Harper B. Fauni, S. Braddock, E. Torti, J. Holt, ... Prashant Sharma, M. Malicdan, C. Tifft	5	2019	5 🐜