Continuing a search for a diagnosis: the impact of adolescence and family dynamics

by Ilana M. Miller, Beverly M. Yashar, Undiagnosed Disease Network, Ellen F. Macnamara
Published 2023-01-01

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

by Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin
Published 2022-04-01

P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders

by Kristina Macakova, Jefferson Sinson, Sen Zhao, Hongzheng Dai, Jill Rosenfeld, Gladys Zapata, Shenglan Li, Patricia Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Disease Network, Brendan Lee, Christine Eng, Pengfei Liu
Published 2024-01-01

IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

by John H. Newman, Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, Derek Riebau, Hugues Allard‐Chamard, William M. Stone, Cory Perugino, Mark Pilkinton, Scott A. Smith, Wyatt J. McDonnell, John A. Capra, Jens Meiler, Joy Cogan, Kelly Xing, Vinay S. Mahajan, Hamid Mattoo, Rizwan Hamid, John A. Phillips III, Undiagnosed Disease Network
Published 2019-06-01

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

by Palmer, Christina GS, McConkie-Rosell, Allyn, Holm, Ingrid A, LeBlanc, Kimberly, Sinsheimer, Janet S, Briere, Lauren C, Dorrani, Naghmeh, Herzog, Matthew R, Lincoln, Sharyn, Schoch, Kelly, Spillmann, Rebecca C, Brokamp, Elly, Undiagnosed Diseases Network
Published 2018

Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network

by Splinter, Kimberly, Hull, Sara Chandros, Holm, Ingrid A., McDonough, Tara L., Wise, Anastasia L., Ramoni, Rachel B.
Published 2018

VarSight: prioritizing clinically reported variants with binary classification algorithms.

by Holt, James M, Wilk, Brandon, Birch, Camille L, Brown, Donna M, Gajapathy, Manavalan, Moss, Alexander C, Sosonkina, Nadiya, Wilk, Melissa A, Anderson, Julie A, Harris, Jeremy M, Kelly, Jacob M, Shaterferdosian, Fariba, Uno-Antonison, Angelina E, Weborg, Arthur, Undiagnosed Diseases Network, Worthey, Elizabeth A
Published 2019

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

by Haghighi, Alireza, Krier, Joel B, Toth-Petroczy, Agnes, Cassa, Christopher A, Frank, Natasha Y, Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C, Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A, Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J, Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B, Pantazi, Angeliki, Chopra, Sameer S, Leshchiner, Ignaty, Stitziel, Nathan O, Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A, Liao, Eric, Stoler, Joan M, Nowak, Catherine B, Sanchez-Lara, Pedro A, Klein, Ophir D, Perry, Hazel, Patsopoulos, Nikolaos A, Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C, Seidman, Christine E, MacRae, Calum A, Sunyaev, Shamil R, Maas, Richard L, Vuzman, Dana, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM)
Published 2018

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

by Kyle, Jennifer E, Stratton, Kelly G, Zink, Erika M, Kim, Young-Mo, Bloodsworth, Kent J, Monroe, Matthew E, Undiagnosed Diseases Network, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Koeller, David M, Metz, Thomas O
Published 2021

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

by Beck, David B, Basar, Mohammed A, Asmar, Anthony J, Thompson, Joyce J, Oda, Hirotsugu, Uehara, Daniela T, Saida, Ken, Pajusalu, Sander, Talvik, Inga, D'Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W, Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Undiagnosed Diseases Network, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J, Aksentijevich, Ivona, Kastner, Daniel L, Rocha, Pedro P, Werner, Achim
Published 2021

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

by Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B, LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N, Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R, Liu, Pengfei, Wegner, Daniel J, Paul, Alexander J, Undiagnosed Diseases Network, Sunyaev, Shamil R, Kohane, Isaac S
Published 2021

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.

by Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J, Frésard, Laure, Jakubosky, David, D'Antonio, Matteo, Li, Xin, Ferraro, Nicole M, Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D, Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B, Bonner, Devon E, HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Wheeler, Matthew T, Kilpinen, Helena, Knowles, Joshua W, Smith, Erin N, Frazer, Kelly A, Montgomery, Stephen B, Stegle, Oliver
Published 2021

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

by Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM
Published 2018

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

by 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, Undiagnosed Diseases Network, Care4Rare Canada Consortium, 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
Published 2019

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

by Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, Vaz, Frédéric M
Published 2021

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

by Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K-G, Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C, Goldstein, David B, Undiagnosed Diseases Network
Published 2019

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

by Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel SG, Del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Undiagnosed Diseases Network Members, Goldstein, David B, Shashi, Vandana
Published 2018

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

by Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A, Settas, Nikolaos, London, Edra, Rosenfeld, Jill A, Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F, Martinez-Agosto, Julian A, Palmer, Christina GS, Signer, Rebecca H, Undiagnosed Diseases Network, Andrews, Marisa V, Grange, Dorothy K, Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiß, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P
Published 2021

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

by Béziat, Vivien, Tavernier, Simon J, Chen, Yin-Huai, Ma, Cindy S, Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A, De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A, Dai, Hongzheng, Burrage, Lindsay C, Murdock, David R, Lambrecht, Bart N, Avettand-Fenoel, Véronique, Vogel, Tiphanie P, Undiagnosed Diseases Network, Esther, Charles R, Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D, Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J, Freeman, Alexandra F, Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A, Tangye, Stuart G, Uhlig, Holm H, Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Published 2020