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Lynne A. Wolfe

National Human Genome Research Institute

47H-index
184Paper Count
7.0KCitation Count
Published Papers 67
Publication Date
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
err2025-11-26
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errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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BK channel activity in skin fibroblasts from patients with neurological disorder
err2025-08-10
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errRia L. Dinsdale; Thomas R. Middendorf; Deborah Disilvestre; David Adams; William Gahl; Ellen F. Macnamara; Lynne Wolfe; Camilo Toro; Cynthia J. Tifft; Andrea L. Meredith
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
err2024-08-01
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PREAI
errLam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva
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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program
err2023-11-01
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PREAI
errMacnamara, Ellen F.; Loydpierson, Amelia; Latour, Yvonne L.; D'Souza, Precilla; Murphy, Jennifer; Wolfe, Lynne; Estwick, Tyra; Johnston, Jean M.; Yang, John; Undiagnosed Diseases Network, Maria T.; Acosta, Maria T.; Lee, Paul R.; Pierson, Tyler Mark; Soldatos, Ariane; Toro, Camilo; Markello, Tom; Adams, David R.; Gahl, William A.; Yousef, Muhammad; Tifft, Cynthia J.
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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
err2023-08-16
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errPeluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
err2023-04-04
err9
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errErdinc, Direnis; Rodriguez-Luis, Alejandro; Fassad, Mahmoud R.; Mackenzie, Sarah; Watson, Christopher M.; Valenzuela, Sebastian; Xie, Xie; Menger, Katja E.; Sergeant, Kate; Craig, Kate; Hopton, Sila; Falkous, Gavin; Poulton, Joanna; Garcia-Moreno, Hector; Giunti, Paola; Aschoff, Carlos A. de Moura; Saute, Jonas A. Morales; Kirby, Amelia J.; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Grainne S.; Schaefer, Andrew M.; Gustafsson, Claes M.; Taylor, Robert W.; Falkenberg, Maria; Nicholls, Thomas J.
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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
err2023-01-01
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errLoong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
err2022-07-05
err8
PREAI
errShimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A.
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EIF3F compound heterozygous genotype-phenotype association
err2022-03-01
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errNicoli, Elena-Raluca; Streata, Ioana; Yang, John; Macnamara, Ellen; Wolfe, Lynne; Garcia, Karolyn; Ciurea, Tudorel; Ioana, Mihai; Gahl, William; Tifft, Cynthia; Acosta, Maria; Adams, David
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PIGN encephalopathy: Characterizing the epileptology
err2022-02-18
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errBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.
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A concerted action to explore therapies for free sialic acid storage disease (FSASD)
err2022-02-01
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PREAI
errHuizing, Marjan; Sabir, Marya S.; Hackbarth, Mary E.; Wolfe, Lynne A.; Wasserstein, Melissa P.; Adams, David R.; Malicdan, May C.; Gahl, William A.; Walkley, Steven U.
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Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity
err2022-01-01
err17
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errChatrathi, Harish E.; Collins, Jason C.; Wolfe, Lynne A.; Markello, Thomas C.; Adams, David R.; Gahl, William A.; Werner, Achim; Sharma, Prashant
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (vol 23, pg 740, 2021)
err2021-12-01
err1
errOAAI
errFerdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; 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; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.
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FOXR1 regulates stress response pathways and is necessary for proper brain development
err2021-11-01
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errMota, Andressa; Waxman, Hannah K.; Hong, Rui; Lagani, Gavin D.; Niu, Sheng-Yong; Bertherat, Feodora L.; Wolfe, Lynne; Malicdan, Christine May; Markello, Thomas C.; Adams, David R.; Gahl, William A.; Cheng, Christine S.; Beffert, Uwe; Ho, Angela
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
err2021-08-01
err15
errOAAI
errMarbach, 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 G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; 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.
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
err2021-04-01
err30
errOAAI
errFerdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; 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; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
err2021-02-01
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errSchoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N.; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J.; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B.; Hom, Jason; Sampson, Jacinda; Wheeler, Matthew T.; Cogan, Joy; Bernstein, Jonathan A.; Adams, David R.; McCray, Alexa T.; Shashi, Vandana
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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
err2021-01-07
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errStarosta, Rodrigo Tzovenos; Boyer, Suzanne; Tahata, Shawn; Raymond, Kimiyo; Lee, Hee Eun; Wolfe, Lynne A.; Lam, Christina; Edmondson, Andrew C.; Doederlein Schwartz, Ida Vanessa; Morava, Eva
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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
err2020-10-01
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errOAAI
errdel Cano-Ochoa, Francisco; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M. Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramon-Maiques, Santiago
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