Kimberly Splinter'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 🦁
🐜	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 🐜
🦁	Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia 8 auth. Kimberly Splinter, A. Niemi, Rachel Cox, J. Platt, Monisha K Shah, G. Enns, ... M. Kasahara, J. Bernstein	4	2016	4 🦁
🦁	Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network Kimberly Splinter, S. Hull, I. Holm, Tara L. McDonough, A. L. Wise, R. Ramoni	3	2017	3 🦁