Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders

Authors: Mak, Gloria, Tarnopolsky, Mark, Lu, Jian-Qiang

Source: In Mitochondrion September 2024 78

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Authors: Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara, Hartley, Taila, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M.

Source: In Genetics in Medicine February 2024 26(2)

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Authors: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H., Enns, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D.S., Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L.K., Vissing, John, Vockley, Jerry, Finman, Jeffrey S., Brown, David A., Shiffer, James A., Mancuso, Michelango

Source: Neurology. 101(3):e238-e252

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192337836.0x000001&indx=1&recIds=ETOCvdc_100192337836.0x000001

Anti–Valosin‐Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies

Authors: Amlani, Adam, Choi, May Y., Buhler, Katherine A., Hudson, Marie, Tarnopolsky, Mark, Brady, Lauren, Schmeling, Heinrike, Swain, Mark G., Stingl, Cory, Reed, Ann, Fritzler, Marvin J.

Source: ACR open rheumatology. 5(1):10-14

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185695947.0x000001&indx=1&recIds=ETOCvdc_100185695947.0x000001

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

Authors: Whitney, Robyn, Jain, Puneet, RamachandranNair, Rajesh, Jones, Kevin C., Kiani, Hassan, Tarnopolsky, Mark, Meaney, Brandon

Source: Epilepsia open. 8(2):623-632

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184657476.0x000001&indx=1&recIds=ETOCvdc_100184657476.0x000001

Human skeletal muscle mitochondrial responses to single‐leg intermittent or continuous cycle exercise training matched for absolute intensity and total work

Authors: Skelly, Lauren E., MacInnis, Martin J., Bostad, William, McCarthy, Devin G., Jenkins, Elizabeth M., Archila, Linda R., Tarnopolsky, Mark A., Gibala, Martin J.

Source: Scandinavian journal of medicine & science in sports. 33(6):872-881

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182916837.0x000001&indx=1&recIds=ETOCvdc_100182916837.0x000001

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Authors: Hartley, Taila, Soubry, Élisabeth, Acker, Meryl, Osmond, Matthew, Couse, Madeline, Gillespie, Meredith K., Ito, Yoko, Marshall, Aren E., Lemire, Gabrielle, Huang, Lijia, Chisholm, Caitlin, Eaton, Alison J., Price, E. Magda, Dowling, James J., Ramani, Arun K., Mendoza‐Londono, Roberto, Costain, Gregory, Axford, Michelle M., Szuto, Anna, McNiven, Vanda, Damseh, Nadirah, Jobling, Rebekah, Kock, Leanne, Mojarad, Bahareh A., Young, Ted, Shao, Zhuo, Hayeems, Robin Z., Graham, Ian D., Tarnopolsky, Mark, Brady, Lauren, Armour, Christine M., Geraghty, Michael, Richer, Julie, Sawyer, Sarah, Lines, Matthew, Mercimek‐Andrews, Saadet, Carter, Melissa T., Graham, Gail, Kannu, Peter, Lazier, Joanna, Li, Chumei, Aul, Ritu B., Balci, Tugce B., Dlamini, Nomazulu, Badalato, Lauren, Guerin, Andrea, Walia, Jagdeep, Chitayat, David, Cohn, Ronald, Faghfoury, Hanna, Forster‐Gibson, Cynthia, Gonorazky, Hernan, Grunebaum, Eyal, Inbar‐Feigenberg, Michal, Karp, Natalya, Morel, Chantal, Rusnak, Alison, Sondheimer, Neal, Warman‐Chardon, Jodi, Bhola, Priya T., Bourque, Danielle K., Chacon, Inara J., Chad, Lauren, Chakraborty, Pranesh, Chong, Karen, Doja, Asif, Goh, Elaine Suk‐Ying, Saleh, Maha, Potter, Beth K., Marshall, Christian R., Dyment, David A., Kernohan, Kristin, Boycott, Kym M.

Source: Clinical genetics. 103(3):288-300

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173053976.0x000001&indx=1&recIds=ETOCvdc_100173053976.0x000001

Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases

Authors: Fournier, Jeffrey E., Mak, Gloria, Gordon, Katerina, Glogauer, Judah, Fareez, Faiha, Provias, John, Tarnopolsky, Mark A., Lu, Jian-Qiang

Source: In Journal of the Neurological Sciences 15 August 2023 451

Metabolic Myopathies

Authors: Tarnopolsky, Mark A.

Source: Continuum. 28(6):1752-1777

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191841616.0x000001&indx=1&recIds=ETOCvdc_100191841616.0x000001

Nutritional co-therapy with 1, 3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease

Authors: Nilsson, Mats I., Crozier, Michael, Di Carlo, Alessia, Xhuti, Donald, Manta, Katherine, Roik, Liza J., Bujak, Adam L., Nederveen, Joshua P., Tarnopolsky, Milla G., Hettinga, Bart, Meena, Naresh K., Raben, Nina, Tarnopolsky, Mark A.

Source: Molecular genetics and metabolism. 137(1-2):228-240

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184961843.0x000001&indx=1&recIds=ETOCvdc_100184961843.0x000001

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly

Authors: Brady, Lauren I., DeFrance, Bryon, Tarnopolsky, Mark

Source: Molecular syndromology. 13(5):419-424

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167665644.0x000001&indx=1&recIds=ETOCvdc_100167665644.0x000001

Genetic, structural and clinical analysis of spastic paraplegia 4

Authors: Varghaei, Parizad, Estiar, Mehrdad A., Ashtiani, Setareh, Veyron, Simon, Mufti, Kheireddin, Leveille, Etienne, Yu, Eric, Spiegelman, Dan, Rioux, Marie-France, Yoon, Grace, Tarnopolsky, Mark, Boycott, Kym M., Dupre, Nicolas, Suchowersky, Oksana, Trempe, Jean-François, Rouleau, Guy A., Gan-Or, Ziv

Source: Parkinsonism & related disorders. 98:62-69

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165202542.0x000001&indx=1&recIds=ETOCvdc_100165202542.0x000001

COVID‐19‐Associated Critical Illness Myopathy with Direct Viral Effects

Authors: Dodig, Dubravka, Tarnopolsky, Mark A., Margeta, Marta, Gordon, Katerina, Fritzler, Marvin J., Lu, Jian‐Qiang

Source: Annals of neurology. 91(4):568-574

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100144541556.0x000001&indx=1&recIds=ETOCvdc_100144541556.0x000001

Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease

Authors: Nilsson, Mats I., Crozier, Michael, Di Carlo, Alessia, Xhuti, Donald, Manta, Katherine, Roik, Liza J., Bujak, Adam L., Nederveen, Joshua P., Tarnopolsky, Milla G., Hettinga, Bart, Meena, Naresh K., Raben, Nina, Tarnopolsky, Mark A.

Source: In Molecular Genetics and Metabolism September-October 2022 137(1-2):228-240

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Authors: Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt ^{*, *}, Roberts, Mark ^*, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen ^†, Kishnani, Priya S ^†

Source: In The Lancet Neurology December 2021 20(12):1027-1037

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Authors: Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi ^{*, *}, Kishnani, Priya S ^*, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M ^†, Schoser, Benedikt ^†

Source: In The Lancet Neurology December 2021 20(12):1012-1026

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

Authors: Bali, Deeksha, Godfrey, Richard, Haller, Ronald, Kishnani, Priya, Laforêt, Pascal, Løkken, Nicoline, Musumeci, Olimpia, Santalla, Alfredo, Tarnopolsky, Mark, Toscano, Antonio, Vissing, John, Voermans, Nicol, Wakelin, Andrew, Lucia, Alejandro, Martinuzzi, Andrea, Nogales-Gadea, Gisela, Quinlivan, Ros, Reason, Stacey

Source: In Neuromuscular Disorders December 2021 31(12):1296-1310

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Authors: Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

Source: In Genetics in Medicine May 2021 23(5):881-887

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Authors: Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J.

Source: In Genetics in Medicine May 2021 23(5):900-908

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

Authors: Ferdinandusse, 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, 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, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., III, Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, 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, Frédéric M.

Source: In Genetics in Medicine April 2021 23(4):740-750