End of life care in a level IV outborn neonatal intensive care unit von Groden, Catherine M., Raed, Mona, Helft, Paul, Allen, Jayme D.

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Variability of Care Practices for Extremely Early Deliveries von LoRe, Danielle, Groden, Catherine M, Schuh, Allison R, Holmes, Chondraah, Ostilla, Lorena, Vogel, Maggie M, Murray, Peter D, Yamasato, Kelly, Tonismae, Tiffany, Anani, Uchenna E, Henner, Natalia, Famuyide, Mobolaji, Leuthner, Steven R, Laventhal, Naomi, Andrews, Bree Landis, Tucker Edmonds, Brownsyne M, Brennan, Kathleen G, Feltman, Dalia M

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency von Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M.J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian

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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy von Debs, Sarah, Ferreira, Carlos R., Groden, Catherine, Kim, H. Jeffrey, King, Kelly A., King, Monique C., Lehky, Tanya, Cowen, Edward W., Brown, Laura H., Merideth, Melissa, Owen, Carter M., Macnamara, Ellen, Toro, Camilo, Gahl, William A., Soldatos, Ariane

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Neurologic involvement in patients with atypical Chediak-Higashi disease von Introne, Wendy J, Westbroek, Wendy, Groden, Catherine A, Bhambhani, Vikas, Golas, Gretchen A, Baker, Eva H, Lehky, Tanya J, Snow, Joseph, Ziegler, Shira G, Malicdan, May Christine V, Adams, David R, Dorward, Heidi M, Hess, Richard A, Huizing, Marjan, Gahl, William A, Toro, Camilo

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Neurologic involvement in patients with atypical Chediak-Higashi disease von Introne, Wendy J, Westbroek, Wendy, Cullinane, Andrew R, Groden, Catherine A, Bhambhani, Vikas, Golas, Gretchen A, Baker, Eva H, Lehky, Tanya J, Snow, Joseph, Ziegler, Shira G, Adams, David R, Dorward, Heidi M, Hess, Richard A, Huizing, Marjan, Gahl, William A, Toro, Camilo

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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B von Li, Howard J, Groden, Catherine, Hoenig, Melanie P, Ray, Evan C, Ferreira, Carlos R, Gahl, Willam, Novacic, Danica

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Idiopathic Basal Ganglia Calcifications: An Atypical Presentation of PKAN von Wu, Yvonne W., MD, MPH, Hess, Christopher P., MD, PhD, Singhal, Nilika S., MD, Groden, Catherine, NP, Toro, Camilo, MD

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Multiple endoscopic biopsies in research subjects: safety results from a National Institutes of Health series von Yao, Michael D., MD, von Rosenvinge, Erik C., MD, Groden, Catherine, RN, Mannon, Peter J., MD

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Early Onset Parkinson’s Disease Caused by Complete Uniparental Isodisomy of Chromosome 1 (40) von Xiao, Changrui, Markello, Thomas, Groden, Catherine, Gahl, William, Toro, Camilo

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The clinical management of type 2 Gaucher disease von Weiss, Karin, Gonzalez, Ashley N., Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts von Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.

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A Randomized, Controlled Trial of ZMapp for Ebola Virus Infection von Davey, Jr, Richard T, Dodd, Lori, Proschan, Michael A, Neaton, James, Neuhaus Nordwall, Jacquie, Koopmeiners, Joseph S, Beigel, John, Tierney, John, Lane, H Clifford, Fauci, Anthony S, Massaquoi, Moses B F, Sahr, Foday, Malvy, Denis

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease von Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A

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Phase 2 Placebo-Controlled Trial of Two Vaccines to Prevent Ebola in Liberia von Kennedy, Stephen B, Bolay, Fatorma, Kieh, Mark, Grandits, Greg, Badio, Moses, Ballou, Ripley, Eckes, Risa, Feinberg, Mark, Follmann, Dean, Grund, Birgit, Gupta, Swati, Hensley, Lisa, Higgs, Elizabeth, Janosko, Krisztina, Johnson, Melvin, Kateh, Francis, Logue, James, Marchand, Jonathan, Monath, Thomas, Nason, Martha, Nyenswah, Tolbert, Roman, François, Stavale, Eric, Wolfson, Julian, Neaton, James D, Lane, H. Clifford

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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome von Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.

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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease von Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases von Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M.D., Yang, Sandra, Madeo, Anne, Mullikin, James C., Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David

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Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism von Lopez, Grisel, Steward, Alta, Ryan, Emory, Groden, Catherine, Wiggs, Edythe, Segalà, Laura, Monestime, Gianina M., Tayebi, Nahid, Sidransky, Ellen

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NT5E Mutations and Arterial Calcifications von St. Hilaire, Cynthia, Ziegler, Shira G, Markello, Thomas C, Brusco, Alfredo, Groden, Catherine, Gill, Fred, Carlson-Donohoe, Hannah, Lederman, Robert J, Chen, Marcus Y, Yang, Dan, Siegenthaler, Michael P, Arduino, Carlo, Mancini, Cecilia, Freudenthal, Bernard, Stanescu, Horia C, Zdebik, Anselm A, Chaganti, R. Krishna, Nussbaum, Robert L, Kleta, Robert, Gahl, William A, Boehm, Manfred

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