학술논문
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'학술논문'
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1~20
Academic Journal
Khoja, Ibrahim T. ; Peck, Dawn S. ; Gavrilov, Dimitar K. ; McPheron, Molly A. ; Oglesbee, Devin ; Bentz Pino, Gisele ; Sapp, Katie L. ; Schultz, Matthew J. ; Studinski Jones, April L. ; White, Amy L. ; Tortorelli, Silvia ; Matern, Dietrich ; Hall, Patricia L.
In Genetics in Medicine January 2026 28(1)
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
Academic Journal
Bontrager, Jordan Elliott; White, Amy L.; Brigatti, Karlla W.; Laxen, William; Loken, Perry R.; Grider, Tiffany; Oglesbee, Devin; Gavrilov, Dimitar K.; Tortorelli, Silvia; Hall, Patricia L.; Matern, Dietrich; Lauer, Emily; Pickart, Angela; Salsbery, Kyle; Niu, Zhiyv; Smith, Christy; Albright, Amy; Mukherjee-Clavin, Bipasha; Parmar, Pooja; Mhoon, Justin; Massie, Rami; Pilon-Cadieux, Camille; Gauthier, Amelie; Alawneh, Josef; Emilie Nguyen, Cam-Tu; Shy, Michael E.; Koehler, Alanna E.; Carson, Vincent J.; Herrmann, David N.; Schultz, Matthew J.
Neurology. Nov 12, 2025 105(11)
Academic Journal
Martin Rios, Angela M.; Gibbs, Liliane H.; Stepien, Karolina M.; Hall, Katherine; Hall, Patricia L.; Bentz Pino, Gisele; Wang, Raymond Yu-Jeang; Pillai, Nishitha R.; Lund, Troy; Orchard, Paul J.; Kimonis, Virginia E.
Neurology Genetics. Nov 07, 2025 11(6)
Academic Journal
Pino, Gisele Bentz; Quade, Marie A.; Schultz, Matthew J.; White, Amy L.; Peck, Dawn S.; Studinski Jones, April L.; Gavrilov, Dimitar K.; Oglesbee, Devin; Tortorelli, Silvia; Matern, Dietrich; Hall, Patricia L.
In Molecular Genetics and Metabolism December 2025 146(4)
Academic Journal
Meijer, Nils W. F.; Maase, Rose E.; Hall, Patricia L.; Visser, Wouter F.; Koop, Klaas; Bosch, Annet M.; Heiner-Fokkema, M. Rebecca; de Sain-van der Velden, Monique G. M.
Metabolites. September, 2025, Vol. 15 Issue 9
Academic Journal
Lane, Brittany L.; Seal, David W.; Robertson, Dielda J.; Kendall, Carl; Hall, Casey D. Xavier; Mgbere, Osaro; Kissinger, Patricia J.
Journal of Health Care for the Poor and Underserved. 36(1):257-283
Academic Journal
The Journal of Molecular Diagnostics. 26(11):988-994
Report
Mason, James Paul; Werth, Alexandra; West, Colin G.; Youngblood, Allison A.; Woodraska, Donald L.; Peck, Courtney; Lacjak, Kevin; Frick, Florian G.; Gabir, Moutamen; Alsinan, Reema A.; Jacobsen, Thomas; Alrubaie, Mohammad; Chizmar, Kayla M.; Lau, Benjamin P.; Dominguez, Lizbeth Montoya; Price, David; Butler, Dylan R.; Biron, Connor J.; Feoktistov, Nikita; Dewey, Kai; Loomis, N. E.; Bodzianowski, Michal; Kuybus, Connor; Dietrick, Henry; Wolfe, Aubrey M.; Guerrero, Matt; Vinson, Jessica; Starbuck, Peter; Litton, Shelby D; Beck, M. G.; Fisch, Jean-Paul; West, Ayana; Muniz, Alexis A.; Chavez, Luis; Upthegrove, Zachary T.; Runyon, Brenton M.; Salazar, J.; Kritzberg, Jake E.; Murrel, Tyler; Ho, Ella; LaFemina, Quintin Y.; Elbashir, Sara I.; Chang, Ethan C.; Hudson, Zachary A.; Nussbaum, Rosemary O.; Kennedy, Kellen; Kim, Kevin; Arango, Camila Villamil; Albakr, Mohammed A.; Rotter, Michael; Garscadden, A. J.; Salcido-Alcontar JR, Antonio; Pearl, Harrison M.; Stepaniak, Tyler; Marquez, Josie A.; Marsh, Lauren; Andringa, Jesse C; Osogwin, Austin; Shields, Amanda M.; Brookins, Sarah; Hach, Grace K.; Clausi, Alexis R.; Millican, Emily B.; Jaimes, Alan A; Graham, Alaina S.; Burritt, John J.; Perez, J. S.; Ramirez, Nathaniel; Suri, Rohan; Myer, Michael S.; Kresek, Zoe M.; Goldsberry, C. A.; Payne, Genevieve K.; Jourabchi, Tara; Hu, J.; Lucca, Jeffrey; Feng, Zitian; Gilpatrick, Connor B.; Khan, Ibraheem A.; Warble, Keenan; Sweeney, Joshua D.; Dorricott, Philip; Meyer, Ethan; Kothamdi, Yash S.; Sohail, Arman S.; Grell, Kristyn; Floyd, Aidan; Bard, Titus; Mathieson, Randi M.; Reed, Joseph; Cisneros, Alexis; Payne, Matthew P.; Jarriel, J. R.; Mora, Jacqueline Rodriguez; Sundell, M. E.; Patel, Kajal; Alesmail, Mohammad; Alnasrallah, Yousef A; Abdullah, Jumana T.; Molina-Saenz, Luis; Tayman, K. E.; Brown, Gabriel T.; Kerr-Layton, Liana; Berriman-Rozen, Zachary D.; Hiatt, Quinn; Kalra, Etash; Ong, Jason; Vadayar, Shreenija; Shannahan, Callie D.; Benke, Evan; zhang, Jinhua; Geisman, Jane; Martyr, Cara; Ameijenda, Federico; Akruwala, Ushmi H.; Nehring, Molly; Kissner, Natalie; Rule, Ian C.; Learned, Tyler; Smith, Alexandra N.; Mazzotta, Liam; Rounsefell, Tyndall; Eyeson, Elizabeth A.; Shelby, Arlee K.; Moll, Tyler S; Menke, Riley; Shahba, Hannan; House Jr., Tony A.; Clark, David B.; Burns, Annemarie C.; de La Beaujardiere, Tristan; Trautwein, Emily D.; Plantz, Will; Reeves, Justin; Faber, Ian; Buxton, B. W.; Highhouse, Nigel; Landrey, Kalin; Hansen, Connor M; Chen, Kevin; Hales, Ryder Buchanan; Borgerding, Luke R.; Guo, Mutian; Crow, Christian J.; Whittall, Lloyd C.; Simmons, Conor; Folarin, Adeduni; Parkinson, Evan J.; Rahn, Anna L.; Blevins, Olivia; Morelock, Annalise M.; Kelly, Nicholas; Parker, Nathan L.; Smith, Kelly; Plzak, Audrey E.; Saeb, David; Hares, Cameron T.; Parker, Sasha R.; McCoy, Andrew; Pham, Alexander V.; Lauzon, Megan; Kennedy, Cayla J.; Reyna, Andrea B.; Acosta, Daniela M. Meza; Cool, Destiny J.; Steinbarth, Sheen L.; Mendoza-Anselmi, Patricia; Plutt, Kaitlyn E.; Kipp, Isabel M; Rakhmonova, M.; Brown, Cameron L.; Van Anne, Gabreece; Moss, Alexander P.; Golden, Olivia; Kirkpatrick, Hunter B.; Colleran, Jake R.; Sullivan, Brandon J; Tran, Kevin; Carpender, Michael Andrew; Mundy, Aria T.; Koenig, Greta; Oudakker, Jessica; Engelhardt, Rasce; Ales, Nolan; Wexler, Ethan Benjamin; Beato, Quinn I; Chen, Lily; Cochran, Brooke; Hill, Paula; Hamilton, Sean R.; Hashiro, Kyle; Khan, Usman; Martinez, Alexa M.; Brockman, Jennifer L.; Mallory, Macguire; Reed, Charlie; Terrile, Richard; Singh, Savi; Watson, James Adam; Creany, Joshua B.; Price, Nicholas K.; Miften, Aya M.; Tran, Bryn; Kamenetskiy, Margaret; Martinez, Jose R.; Opp, Elena N.; Huang, Jianyang; Fails, Avery M.; Belei, Brennan J.; Slocum, Ryan; Astalos, Justin; East, Andrew; Nguyen, Lena P.; Pherigo, Callie C; East, Andrew N.; Li, David Y.; Nelson, Maya LI; Taylor, Nicole; Odbayar, Anand; Rives, Anna Linnea; Mathur, Kabir P.; Billingsley, Jacob; Polikoff, Hyden; Driscoll, Michael; Wilson, Orion K.; Lahmers, Kyle; Toon, Nathaniel J.; Lippincott, Sam; Musgrave, Andrew J.; Gregory, Alannah H.; Pitsuean-Meier, Sedique; Jesse, Trevor; Smith, Corey; Miles, Ethan J.; Kainz, Sabrina J. H. T.; Ji, Soo Yeun; Nguyen, Lena; Aryan, Maryam; Dinser, Alexis M.; Shortman, Jadon; Bastias, Catalina S; Umbricht, Thomas D; Cage, Breonna; Randolph, Parker; Pollard, Matthew; Simone, Dylan M.; Aramians, Andrew; Brecl, Ariana E.; Robert, Amanda M.; Zenner, Thomas; Saldi, Maxwell; Morales, Gavin; Mendez, Citlali; Syed, Konner; Vogel, Connor Maklain; Cone, Rebecca A.; Berhanu, Naomi; Carpenter, Emily; Leoni, Cecilia; Bryan, Samuel; Ramachandra, Nidhi; Shaw, Timothy; Lee, E. C.; Monyek, Eli; Wegner, Aidan B.; Sharma, Shajesh; Lister, Barrett; White, Jamison R.; Willard, John S.; Sulaiman, S. A; Blandon, Guillermo; Narayan, Anoothi; Ruger, Ryan; Kelley, Morgan A.; Moreno, Angel J.; Balcer, Leo M; Ward-Chene, N. R. D.; Shelby, Emma; Reagan, Brian D.; Marsh, Toni; Sarkar, Sucheta; Kelley, Michael P.; Fell, Kevin; Balaji, Sahana; Hildebrand, Annalise K.; Shoha, Dominick; Nandu, Kshmya; Tucker, Julia; Cancio, Alejandro R.; Wang, Jiawei; Rapaport, Sarah Grace; Maravi, Aimee S.; Mayer, Victoria A.; Miller, Andrew; Bence, Caden; Koke, Emily; Fauntleroy, John T; Doermer, Timothy; Al-Ghazwi, Adel; Morgan, Remy; Alahmed, Mohammed S.; Mathavan, Adam Izz Khan Mohd Reduan; Silvester, H. K.; Weiner, Amanda M.; Liu, Nianzi; Iovan, Taro; Jensen, Alexander V.; AlHarbi, Yazeed A.; Jiang, Yufan; Zhang, Jiaqi; Jones, Olivia M.; Huang, Chenqi; Reh, Eileen N.; Alhamli, Dania; Pettine, Joshua; Zhou, Chongrui; Kriegman, Dylan; Yang, Jianing; Ash, Kevin; Savage, Carl; Kaiser, Emily; Augenstein, Dakota N.; Padilla, Jacqueline; Stark, Ethan K.; Hansen, Joshua A.; Kokes, Thomas; Huynh, Leslie; Sanchez-Sanchez, Gustavo; Jeseritz, Luke A.; Carillion, Emma L.; Vepa, Aditya V.; Khanal, Sapriya; Behr, Braden; Martin, Logan S.; McMullan, Jesse J.; Zhao, Tianwei; Williams, Abigail K.; Alqabani, Emeen; Prinster, Gale H.; Horne, Linda; Ruggles-Delgado, Kendall; Otto, Grant; Gomez, Angel R.; Nguyen, Leonardo; Brumley, Preston J.; Venegas, Nancy Ortiz; Varela, Ilian; Brownlow, Jordi; Cruz, Avril; Leiker, Linzhi; Batra, Jasleen; Hutabarat, Abigail P.; Nunes-Valdes, Dario; Jameson, Connor; Naqi, Abdulaziz; Adams, Dante Q.; Biediger, Blaine B.; Borelli, William T; Cisne, Nicholas A.; Collins, Nathaniel A.; Curnow, Tyler L.; Gopalakrishnan, Sean; Griffin, Nicholas F.; Herrera, Emanuel; McGarvey, Meaghan V.; Mellett, Sarah; Overchuk, Igor; Shaver, Nathan; Stratmeyer, Cooper N.; Vess, Marcus T.; Juels, Parker; Alyami, Saleh A.; Gale, Skylar; Wallace, Steven P.; Hunter, Samuel C; Lonergan, Mia C.; Stewart, Trey; Maksimuk, Tiffany E.; Lam, Antonia; Tressler, Judah; Napoletano, Elena R.; Miller, Joshua B.; Roy, Marc G.; Chanders, Jasey; Fischer, Emmalee; Croteau, A. J.; Kuiper, Nicolas A.; Hoffman, Alex; DeBarros, Elyse; Curry, Riley T.; Brzostowicz, A.; Courtney, Jonas; Zhao, Tiannie; Szabo, Emi; Ghaith, Bandar Abu; Slyne, Colin; Beck, Lily; Quinonez, Oliver; Collins, Sarah; Madonna, Claire A.; Morency, Cora; Palizzi, Mallory; Herwig, Tim; Beauprez, Jacob N.; Ghiassi, Dorsa; Doran, Caroline R.; Yang, Zhanchao; Padgette, Hannah M.; Dicken, Cyrus A.; Austin, Bryce W.; Phalen, Ethan J.; Xiao, Catherine; Palos, Adler; Gerhardstein, Phillip; Altenbern, Ava L.; Orbidan, Dan; Dorr, Jackson A.; Rivas, Guillermo A.; Ewing, Calvin A; Giebner, B. C.; McEntee, Kelleen; Kite, Emily R.; Crocker, K. A.; Haley, Mark S.; Lezak, Adrienne R.; McQuaid, Ella; Jeong, Jacob; Albaum, Jonathan; Hrudka, E. M.; Mulcahy, Owen T.; Tanguma, Nolan C.; Oishi-Holder, Sean; White, Zachary; Coe, Ryan W.; Boyer, Christine; Chapman, Mitchell G.; Fortino, Elise; Salgado, Jose A.; Hellweg, Tim; Martinez, Hazelia K.; Mitchell, Alexander J.; Schubert, Stephanie H.; Schumacher, Grace K; Tesdahl, Corey D; Uphoff, C. H.; Vassilyev, Alexandr; Witkoff, Briahn; Wolle, Jackson R.; Dice, Kenzie A.; Behrer, Timothy A.; Bowen, Troy; Campbell, Andrew J; Clarkson, Peter C; Duong, Tien Q.; Hawat, Elijah; Lopez, Christian; Olson, Nathaniel P.; Osborn, Matthew; Peou, Munisettha E.; Vaver, Nicholas J.; Husted, Troy; Kallemeyn, Nicolas Ian; Spangler, Ava A; Mccurry, Kyle; Schultze, Courtney; Troisi, Thomas; Thomas, Daniel; Ort, Althea E.; Singh, Maya A.; Soon, Caitlin; Patton, Catherine; Billman, Jayce A.; Jarvis, Sam; Hitt, Travis; Masri, Mirna; Albalushi, Yusef J.; Schofer, Matthew J; Linnane, Katherine B.; Knott, Philip Whiting; Valencia, Whitney; Arias-Robles, Brian A.; Ryder, Diana; Simone, Anna; Abrams, Jonathan M.; Belknap, Annelene L.; Rouse, Charlotte; Reynolds, Alexander; Petric, Romeo S. L.; Gomez, Angel A.; Meiselman-Ashen, Jonah B.; Carey, Luke; Dias, John S.; Fischer-White, Jules; Forbes, Aidan E.; Galarraga, Gabriela; Kennedy, Forrest; Lawlor, Rian; Murphy, Maxwell J.; Norris, Cooper; Quarderer, Josh; Waller, Caroline; Weber, Robert J.; Gunderson, Nicole; Boyne, Tom; Gregory, Joshua A.; Propper, Henry Austin; von Peccoz, Charles B. Beck; Branch, Donovan; Clarke, Evelyn; Cutler, Libby; Dabberdt, Frederick M.; Das, Swagatam; Figueirinhas, John Alfred D.; Fougere, Benjamin L.; Roy, Zoe A.; Zhao, Noah Y.; Cox, Corben L.; Barnhart, Logan D. W.; Craig, Wilmsen B.; Moll, Hayden; Pohle, Kyle; Mueller, Alexander; Smith, Elena K.; Spicer, Benjamin C.; Aycock, Matthew C.; Bat-Ulzii, Batchimeg; Murphy, Madalyn C.; Altokhais, Abdullah; Thornally, Noah R.; Kleinhaus, Olivia R.; Sarfaraz, Darian; Barnes, Grant M.; Beard, Sara; Banda, David J; Davis, Emma A. B.; Huebsch, Tyler J.; Wagoner, Michaela; Griego, Justus; Hale, Jack J. Mc; Porter, Trevor J.; Abrashoff, Riley; Phan, Denise M.; Smith, Samantha M.; Srivastava, Ashish; Schlenker, Jared A. W.; Madsen, Kasey O.; Hirschmann, Anna E.; Rankin, Frederick C; Akbar, Zainab A.; Blouin, Ethan; Coleman-Plante, Aislinn; Hintsa, Evan; Lookhoff, Emily; Amer, Hamzi; Deng, Tianyue; Dvorak, Peter; Minimo, Josh; Plummer, William C.; Ton, Kelly; Solt, Lincoln; AlAbbas, Batool H.; AlAwadhi, Areej A.; Cooper, Nicholas M.; Corbitt, Jessica S; Dunlap, Christian; Johnson, Owen; Malone, Ryan A.; Tellez, Yesica; Wallace, Logan; Ta, Michael-Tan D.; Wheeler, Nicola H.; Ramirez, Ariana C.; Huang, Shancheng; Mehidic, Amar; Christiansen, Katherine E; Desai, Om; Domke, Emerson N.; Howell, Noah H.; Allsbrook, Martin; Alnaji, Teeb; England, Colin; Siles, Nathan; Burton, Nicholas David; Cruse, Zoe; Gilmartin, Dalton; Kim, Brian T.; Hattendorf, Elsie; Buhamad, Maryam; Gayou, Lily; Seglem, Kasper; Alkhezzi, Tameem; Hicks, Imari R.; Fife, Ryann; Pelster, Lily M.; Fix, Alexander; Sur, Sohan N.; Truong, Joshua K.; Kubiak, Bartlomiej; Bondar, Matthew; Shi, Kyle Z.; Johnston, Julia; Acevedo, Andres B.; Lee, Junwon; Solorio, William J.; Johnston, Braedon Y.; McCormick, Tyler; Olguin, Nicholas; Pastor, Paige J.; Wilson, Evan M.; Trunko, Benjamin L.; Sjoroos, Chris; Adams, Kalvyn N; Bell, Aislyn; Brumage-Heller, Grant; Canales, Braden P.; Chiles, Bradyn; Driscoll, Kailer H.; Hill, Hallie; Isert, Samuel A.; Ketterer, Marilyn; Kim, Matthew M.; Mewhirter, William J.; Phillips, Lance; Phommatha, Krista; Quinn, Megan S.; Reddy, Brooklyn J.; Rippel, Matthew; Russell, Bowman; Williams, Sajan; Pixley, Andrew M.; Gapin, Keala C.; Peterson, B.; Ruprecht, Collin; Hardie, Isabelle; Li, Isaac; Erickson, Abbey; Gersabeck, Clint; Gopalani, Mariam; Allanqawi, Nasser; Burton, Taylor; Cahn, Jackson R.; Conti, Reese; White, Oliver S.; Rojec, Stewart; Hogen, Blake A.; Swartz, Jason R.; Dick, R.; Battist, Lexi; Dunn, Gabrielle M.; Gasser, Rachel; Logan, Timothy W.; Sinkovic, Madeline; Schaller, Marcus T.; Heintz, Danielle A.; Enrich, Andrew; Sanchez, Ethan S.; Perez, Freddy; Flores, Fernando; Kapla, Shaun D.; Shockley, Michael C.; Phillips, Justin; Rumley, Madigan; Daboub, Johnston; Karsh, Brennan J.; Linders, Bridget; Chen, Sam; Do, Helen C.; Avula, Abhinav; French, James M.; Bertuccio, Chrisanna; Hand, Tyler; Lee, Adrianna J.; Neeland, Brenna K; Salazar, Violeta; Andrew, Carter; Barmore, Abby; Beatty, Thomas; Alonzi, Nicholas; Brown, Ryan; Chandler, Olivia M.; Collier, Curran; Current, Hayden; Delasantos, Megan E.; Bonilla, Alberto Espinosa de los Monteros; Fowler, Alexandra A.; Geneser, Julianne R.; Gentry, Eleanor; Gustavsson, E. R.; Hansson, Jonathan; Hao, Tony Yunfei; Herrington, Robert N.; Kelly, James; Kelly, Teagan; Kennedy, Abigail; Marquez, Mathew J.; Meillon, Stella; Palmgren, Madeleine L.; Pesce, Anneliese; Ranjan, Anurag; Robertson, Samuel M.; Smith, Percy; Smith, Trevor J; Soby, Daniel A.; Stratton, Grant L.; Thielmann, Quinn N.; Toups, Malena C.; Veta, Jenna S.; Young, Trenton J.; Maly, Blake; Manzanares, Xander R.; Beijer, Joshua; George, Jacob D.; Mills, Dylan P.; Ziebold, Josh J; Chambers, Paige; Montoya, Michael; Cheang, Nathan M.; Anderson, Hunter J.; Duncan, Sheridan J.; Ehrlich, Lauren; Hudson, Nathan C.; Kiechlin, Jack L.; Koch, Will; Lee, Justin; Menassa, Dominic; Oakes, S. H.; Petersen, Audrey J.; Bunsow, J. R. Ramirez; Bay, Joshua; Ramirez, Sacha; Fenwick, Logan D.; Boyle, Aidan P.; Hibbard, Lea Pearl; Haubrich, Calder; Sherry, Daniel P.; Jenkins, Josh; Furney, Sebastian; Velamala, Anjali A.; Krueger, Davis J.; Thompson, William N.; Chhetri, Jenisha; Lee, Alexis Ying-Shan; Ray, Mia G. V.; Recchia, John C.; Lengerich, Dylan; Taulman, Kyle; Romero, Andres C.; Steward, Ellie N.; Russell, Sloan; Hardwick, Dillon F.; Wootten, Katelynn; Nguyen, Valerie A.; Quispe, Devon; Ragsdale, Cameron; Young, Isabel; Atchley-Rivers, N. S.; Stribling, Jordin L.; Gentile, Julia G; Boeyink, Taylor A.; Kwiatkowski, Daniel; Dupeyron, Tomi Oshima; Crews, Anastasia; Shuttleworth, Mitchell; Dresdner, Danielle C.; Flackett, Lydia; Haratsaris, Nicholas; Linger, Morgan I; Misener, Jay H.; Patti, Samuel; Pine, Tawanchai P.; Marikar, Nasreen; Matessi, Giorgio; Routledge, Allie C.; Alkaabi, Suhail; Bartman, Jessica L.; Bisacca, Gabrielle E.; Busch, Celeste; Edwards, Bree; Staudenmier, Caitlyn; Starling, Travis; McVey, Caden; Montano, Maximus; Contizano, Charles J.; Taylor, Eleanor; McIntyre, James K.; Victory, Andrew; McCammon, Glen S.; Kimlicko, Aspen; Sheldrake, Tucker; Shelchuk, Grace; Von Reich, Ferin J.; Hicks, Andrew J.; O'neill, Ian; Rossman, Beth; Taylor, Liam C.; MacDonald, William; Becker, Simone E.; Han, Soonhee; O'Sullivan, Cian; Wilcove, Isaac; Brennan, David J.; Hanley, Luke C.; Hull, Owen; Wilson, Timothy R.; Kalmus, Madison H.; Berv, Owen A.; Harris, Logan Swous; Doan, Chris H; Londres, Nathan; Parulekar, Anish; Adam, Megan M.; Angwin, Abigail; Cabbage, Carter C.; Colleran, Zachary; Pietras, Alex; Seux, Octave; Oros, Ryan; Wilkinson, Blake C.; Nguyen, Khoa D; Trank-Greene, Maedee; Barone, Kevin M.; Snyder, G. L.; Biehle, Samuel J; Billig, Brennen; Almquist, Justin Thomas; Dixon, Alyssa M.; Erickson, Benjamin; Evans, Nathan; Genne, SL; Kelly, Christopher M; Marcus, Serafima M.; Ogle, Caleb; Patel, Akhil; Vendetti, Evan; Courtney, Olivia; Deel, Sean; Del Foco, Leonardo; Gjini, Michael; Haines, Jessica; Hoff, Isabelle J.; Jones, M. R.; Killian, Dominic; Kuehl, Kirsten; Kuester, Chrisanne; Lantz, Maxwell B.; Lee, Christian J; Mauer, Graham; McKemey, Finbar K.; Millican, Sarah J.; Rosasco, Ryan; Stewart, T. C.; VanEtten, Eleanor; Derwin, Zachary; Serio, Lauren; Sickler, Molly G.; Blake, Cassidy A.; Patel, Neil S.; Fox, Margaret; Gray, Michael J; Ziegler, Lucas J.; Kumar, Aman Priyadarshi; Polly, Madelyn; Mesgina, Sarah; McMorris, Zane; Griffin, Kyle J.; Haile, L. N.; Bassel, Claire; Dixon, Thomas J.; Beattie, Ryan; Houck, Timothy J; Rodgers, Maeve; Trofino, Tyson R.; Lukianow, Dax; Smart, Korben; Hall, Jacqueline L.; Bone, Lauren; Baldwin, James O.; Doane, Connor; Almohsen, Yousef A.; Stamos, Emily; Acha, Iker; Kim, Jake; Samour II, Antonio E.; Chavali, S.; Kanokthippayakun, Jeerakit; Gotlib, Nicholas; Murphy, Ryan C.; Archibald, Jack. W.; Brimhall, Alexander J; Boyer, Aidan; Chapman, Logan T.; Chadda, Shivank; Sibrell, Lisa; Vallery, Mia M.; Conroy, Thomas C.; Pan, Luke J.; Balajonda, Brian; Fuhrman, Bethany E. S.; Alkubaisi, Mohamed; Engelstad, Jacob; Dodrill, Joshua; Fuchs, Calvin R.; Bullard-Connor, Gigi; Alhuseini, Isehaq; Zygmunt, James C.; Sipowicz, Leo; Hayrynen, Griffin A.; McGill, Riley M.; Keating, Caden J.; Hart, Omer; Cyr, Aidan St.; Steinsberger, Christopher H.; Thoman, Gerig; Wood, Travis M.; Ingram, Julia A.; Dominguez, J.; Georgiades, Nathaniel James; Johnson, Matthew; Johnson, Sawyer; Pedersen, Alexander J.; Ralapanawe, Anoush K; Thomas, Jeffrey J.; Sato, Ginn A.; Reynolds, Hope; Nasser, Liebe; Mizzi, Alexander Z.; Damgaard, Olivia; Baflah, Abdulrahman A.; Liu, Steven Y.; Salindeho, Adam D.; Norden, Kelso; Gearhart, Emily E.; Krajnak, Zack; Szeremeta, Philip; Amos, Meggan; Shin, Kyungeun; Muckenthaler, Brandon A.; Medialdea, Melissa; Beach, Simone; Wilson, Connor B.; Adams, Elena R; Aldhamen, Ahmed; Harris, Coyle M.; Hesse, Troy M.; Golding, Nathan T.; Larter, Zachary; Hernandez, Angel; Morales, Genaro; Traxler, Robert B.; Alosaimi, Meshal; Fitton, Aidan F.; Aaron, James Holland; Lee, Nathaniel F.; Liao, Ryan Z.; Chen, Judy; French, Katherine V.; Loring, Justin; Colter, Aurora; McConvey, Rowan; Colozzi, Michael; Vann, John D.; Scheck, Benjamin T.; Weigand, Anthony A; Alhabeeb, Abdulelah; Idoine, Yolande; Woodard, Aiden L.; Medellin, Mateo M.; Ratajczyk, Nicholas O; Tobin, Darien P.; Collins, Jack C.; Horning, Thomas M.; Pellatz, Nick; Pitten, John; Lordi, Noah; Patterson, Alyx; Hoang, Thi D; Zimmermann, Ingrid H; Wang, Hongda; Steckhahn, Daniel; Aradhya, Arvind J.; Oliver, Kristin A.; Cai, Yijian; Wang, Chaoran; Yegovtsev, Nikolay; Wu, Mengyu; Ganesan, Koushik; Osborne, Andrew; Wickenden, Evan; Meyer, Josephine C.; Chaparro, David; Visal, Aseem; Liu, Haixin; Menon, Thanmay S.; Jin, Yan; Wilson, John; Erikson, James W.; Luo, Zheng; Shitara, Nanako; Nelson, Emma E; Geerdts, T. R.; Ortiz, Jorge L Ramirez; Lewandowski, H. J.
Report
Almeida, Andrés; Anderson, Scott F.; Argudo-Fernández, Maria; Badenes, Carles; Barger, Kat; Barrera-Ballesteros, Jorge K.; Bender, Chad F.; Benitez, Erika; Besser, Felipe; Bizyaev, Dmitry; Blanton, Michael R.; Bochanski, John; Bovy, Jo; Brandt, William Nielsen; Brownstein, Joel R.; Buchner, Johannes; Bulbul, Esra; Burchett, Joseph N.; Díaz, Mariana Cano; Carlberg, Joleen K.; Casey, Andrew R.; Chandra, Vedant; Cherinka, Brian; Chiappini, Cristina; Coker, Abigail A.; Comparat, Johan; Conroy, Charlie; Contardo, Gabriella; Cortes, Arlin; Covey, Kevin; Crane, Jeffrey D.; Cunha, Katia; Dabbieri, Collin; Davidson Jr., James W.; Davis, Megan C.; De Lee, Nathan; Delgado, José Eduardo Méndez; Demasi, Sebastian; Di Mille, Francesco; Donor, John; Dow, Peter; Dwelly, Tom; Eracleous, Mike; Eriksen, Jamey; Fan, Xiaohui; Farr, Emily; Frederick, Sara; Fries, Logan; Frinchaboy, Peter; Gaensicke, Boris T.; Ge, Junqiang; Ávila, Consuelo González; Grabowski, Katie; Grier, Catherine; Guiglion, Guillaume; Gupta, Pramod; Hall, Patrick; Hawkins, Keith; Hayes, Christian R.; Hermes, J. J.; Hernández-García, Lorena; Hogg, David W.; Holtzman, Jon A.; Ibarra-Medel, Hector Javier; Ji, Alexander; Jofre, Paula; Johnson, Jennifer A.; Jones, Amy M.; Kinemuchi, Karen; Kluge, Matthias; Koekemoer, Anton; Kollmeier, Juna A.; Kounkel, Marina; Krishnarao, Dhanesh; Krumpe, Mirko; Lacerna, Ivan; Lago, Paulo Jakson Assuncao; Laporte, Chervin; Liu, Ang; Liu, Chao; Liu, Xin; Lopes, Alexandre Roman; Macktoobian, Matin; Majewski, Steven R.; Malanushenko, Viktor; Maoz, Dan; Masseron, Thomas; Masters, Karen L.; Matijevic, Gal; McBride, Aidan; Medan, Ilija; Merloni, Andrea; Morrison, Sean; Myers, Natalie; Mészáros, Szabolcs; Negrete, C. Alenka; Nidever, David L.; Nitschelm, Christian; Oravetz, Audrey; Oravetz, Daniel; Pan, Kaike; Peng, Yingjie; Pinsonneault, Marc H.; Pogge, Rick; Qiu, Dan; Queiroz, Anna Barbara de Andrade; Ramirez, Solange V.; Rix, Hans-Walter; Rosso, Daniela Fernández; Runnoe, Jessie; Salvato, Mara; Sanchez, Sebastian F.; Santana, Felipe A.; Saydjari, Andrew; Sayres, Conor; Schlaufman, Kevin C.; Schneider, Donald P.; Schwope, Axel; Serna, Javier; Shen, Yue; Sobeck, Jennifer; Song, Ying-Yi; Souto, Diogo; Spoo, Taylor; Stassun, Keivan G.; Steinmetz, Matthias; Straumit, Ilya; Stringfellow, Guy; Sánchez-Gallego, José; Taghizadeh-Popp, Manuchehr; Tayar, Jamie; Thakar, Ani; Tissera, Patricia B.; Tkachenko, Andrew; Toledo, Hector Hernandez; Trakhtenbrot, Benny; Trincado, Jose G. Fernandez; Troup, Nicholas; Trump, Jonathan R.; Tuttle, Sarah; Ulloa, Natalie; Vazquez-Mata, Jose Antonio; Alfaro, Pablo Vera; Villanova, Sandro; Wachter, Stefanie; Weijmans, Anne-Marie; Wheeler, Adam; Wilson, John; Wojno, Leigh; Wolf, Julien; Xue, Xiang-Xiang; Ybarra, Jason E.; Zari, Eleonora; Zasowski, Gail
Academic Journal
Hall, Patricia L. ; Lam, Christina ; Wolfe, Lynne ; Edmondson, Andrew ; ACMG Laboratory Quality Assurance Committee
In Genetics in Medicine April 2025 27(4)
Academic Journal
In Genetics in Medicine January 2025 27(1)
Dissertation/ Thesis
Dissertation Abstracts International; Dissertation Abstract International; 65-07A.
Academic Journal
Rios, Angela M. Martin; Gibbs, Liliane H.; Stepien, Karolina M.; Hall, Katherine; Hall, Patricia L.; Pino, Gisele Bentz; Wang, Raymond Yu-Jeang; Pillai, Nishitha R.; Lund, Troy; Orchard, Paul J.; Kimonis, Virginia E.
Academic Journal
Turgeon, Coleman ; Casas, Kari ; Flanagan, Ryan ; White, Amy ; Peck, Dawn ; Pino, Gisele Bentz ; Jones, April Studinski ; Gavrilov, Dimitar ; Oglesbee, Devin ; Schultz, Matthew J. ; Tortorelli, Silvia ; Matern, Dietrich ; Hall, Patricia L.
In Molecular Genetics and Metabolism Reports September 2024 40
Academic Journal
Matern, Dietrich; Basheeruddin, Khaja; Klug, Tracy L.; McKee, Gwendolyn; Edge, Patricia U.; Hall, Patricia L.; Kurtzberg, Joanne; Orsini, Joseph J.
International Journal of Neonatal Screening. January, 2024, Vol. 10 Issue 1
Report
Abolfathi, Bela; Aguado, D. S.; Aguilar, Gabriela; Prieto, Carlos Allende; Almeida, Andres; Ananna, Tonima Tasnim; Anders, Friedrich; Anderson, Scott F.; Andrews, Brett H.; Anguiano, Borja; Aragon-Salamanca, Alfonso; Argudo-Fernandez, Maria; Armengaud, Eric; Ata, Metin; Aubourg, Eric; Avila-Reese, Vladimir; Badenes, Carles; Bailey, Stephen; Balland, Christophe; Barger, Kathleen A.; Barrera-Ballesteros, Jorge; Bartosz, Curtis; Bastien, Fabienne; Bates, Dominic; Baumgarten, Falk; Bautista, Julian; Beaton, Rachael; Beers, Timothy C.; Belfiore, Francesco; Bender, Chad F.; Bernardi, Mariangela; Bershady, Matthew A.; Beutler, Florian; Bird, Jonathan C.; Bizyaev, Dmitry; Blanc, Guillermo A.; Blanton, Michael R.; Blomqvist, Michael; Bolton, Adam S.; Boquien, Mederic; Borissova, Jura; Bovy, Jo; Diaz, Christian Andres Bradna; Brandt, William Nielsen; Brinkmann, Jonathan; Brownstein, Joel R.; Bundy, Kevin; Burgasser, Adam J.; Burtin, Etienne; Busca, Nicolas G.; Canas, Caleb I.; Cano-Diaz, Mariana; Cappellari, Michele; Carrera, Ricardo; Casey, Andrew R.; Sodi, Bernardo Cervantes; Chen, Yanping; Cherinka, Brian; Chiappini, Cristina; Choi, Peter Doohyun; Chojnowski, Drew; Chuang, Chia-Hsun; Chung, Haeun; Clerc, Nicolas; Cohen, Roger E.; Comerford, Julia M.; Comparat, Johan; Nascimento, Janaina Correa do; da Costa, Luiz; Cousinou, Marie-Claude; Covey, Kevin; Crane, Jeffrey D.; Cruz-Gonzalez, Irene; Cunha, Katia; Ilha, Gabriele da Silva; Damke, Guillermo J.; Darling, Jeremy; Davidson Jr., James W.; Dawson, Kyle; Lizaola, Miguel Angel C. de Icaza; de la Macorra, Axel; de la Torre, Sylvain; De Lee, Nathan; Agathe, Victoria de Sainte; Machado, Alice Deconto; Dell'Agli, Flavia; Delubac, Timothee; Diamond-Stanic, Aleksandar M.; Donor, John; Downes, Juan Jose; Drory, Niv; Bourboux, Helion du Mas des; Duckworth, Christopher J.; Dwelly, Tom; Dyer, Jamie; Ebelke, Garrett; Eigenbrot, Arthur Davis; Eisenstein, Daniel J.; Elsworth, Yvonne P.; Emsellem, Eric; Eracleous, Mike; Erfanianfar, Ghazaleh; Escoffier, Stephanie; Fan, Xiaohui; Alvar, Emma Fernandez; Fernandez-Trincado, J. G.; Cirolini, Rafael Fernando; Feuillet, Diane; Finoguenov, Alexis; Fleming, Scott W.; Font-Ribera, Andreu; Freischlad, Gordon; Frinchaboy, Peter; Fu, Hai; Chew, Yilen Gomez Maqueo; Galbany, Lluis; Perez, Ana E. Garcia; Garcia-Dias, R.; Garcia-Hernandez, D. A.; Oehmichen, Luis Alberto Garma; Gaulme, Patrick; Gelfand, Joseph; Gil-Marin, Hector; Gillespie, Bruce A.; Goddard, Daniel; Hernandez, Jonay I. Gonzalez; Gonzalez-Perez, Violeta; Grabowski, Kathleen; Green, Paul J.; Grier, Catherine J.; Gueguen, Alain; Guo, Hong; Guy, Julien; Hagen, Alex; Hall, Patrick; Harding, Paul; Hasselquist, Sten; Hawley, Suzanne; Hayes, Christian R.; Hearty, Fred; Hekker, Saskia; Hernandez, Jesus; Toledo, Hector Hernandez; Hogg, David W.; Holley-Bockelmann, Kelly; Holtzman, Jon; Hou, Jiamin; Hsieh, Bau-Ching; Hunt, Jason A. S.; Hutchinson, Timothy A.; Hwang, Ho Seong; Angel, Camilo Eduardo Jimenez; Johnson, Jennifer A.; Jones, Amy; Jonsson, Henrik; Jullo, Eric; Khan, Fahim Sakil; Kinemuchi, Karen; Kirkby, David; Kirkpatrick IV, Charles C.; Kitaura, Francisco-Shu; Knapp, Gillian R.; Kneib, Jean-Paul; Kollmeier, Juna A.; Lacerna, Ivan; Lane, Richard R.; Lang, Dustin; Law, David R.; Goff, Jean-Marc Le; Lee, Young-Bae; Li, Hongyu; Li, Cheng; Lian, Jianhui; Liang, Yu; Lima, Marcos; Lin, Lihwai; Long, Dan; Lucatello, Sara; Lundgren, Britt; Mackereth, J. Ted; MacLeod, Chelsea L.; Mahadevan, Suvrath; Maia, Marcio Antonio Geimba; Majewski, Steven; Manchado, Arturo; Maraston, Claudia; Mariappan, Vivek; Marques-Chaves, Rui; Masseron, Thomas; Masters, Karen L.; McDermid, Richard M.; McGreer, Ian D.; Melendez, Matthew; Meneses-Goytia, Sofia; Merloni, Andrea; Merrifield, Michael R.; Meszaros, Szabolcs; Meza, Andres; Minchev, Ivan; Minniti, Dante; Mueller, Eva-Maria; Muller-Sanchez, Francisco; Muna, Demitri; Munoz, Ricardo R.; Myers, Adam D.; Nair, Preethi; Nandra, Kirpal; Ness, Melissa; Newman, Jeffrey A.; Nichol, Robert C.; Nidever, David L.; Nitschelm, Christian; Noterdaeme, Pasquier; O'Connell, Julia; Oelkers, Ryan James; Oravetz, Audrey; Oravetz, Daniel; Ortiz, Erik Aquino; Osorio, Yeisson; Pace, Zach; Padilla, Nelson; Palanque-Delabrouille, Nathalie; Palicio, Pedro Alonso; Pan, Hsi-An; Pan, Kaike; Parikh, Taniya; Paris, Isabelle; Park, Changbom; Peirani, Sebastien; Pellejero-Ibanez, Marcos; Penny, Samantha; Percival, Will J.; Perez-Fournon, Ismael; Petitjean, Patrick; Pieri, Matthew M.; Pinsonneault, Marc; Pisani, Alice; Prada, Francisco; Prakash, Abhishek; Queiroz, Anna Barbara de Andrade; Raddick, M. Jordan; Raichoor, Anand; Rembold, Sandro Barboza; Richstein, Hannah; Riffel, Rogemar A.; Riffel, Rogerio; Rix, Hans-Walter; Robin, Annie C.; Torres, Sergio Rodriguez; Roman-Zuniga, Carlos; Ross, Ashley J.; Rossi, Graziano; Ruan, John; Ruggeri, Rossana; Ruiz, Jose; Salvato, Mara; Sanchez, Ariel G.; Sanchez, Sebastian F.; Almeida, Jorge Sanchez; Sanchez-Gallego, Jose R.; Rojas, Felipe Antonio Santana; Santiago, Basilio Xavier; Schiavon, Ricardo P.; Schimoia, Jaderson S.; Schlafly, Edward; Schlegel, David; Schneider, Donald P.; Schuster, William J.; Schwope, Axel; Seo, Hee-Jong; Serenelli, Aldo; Shen, Shiyin; Shen, Yue; Shetrone, Matthew; Shull, Michael; Aguirre, Victor Silva; Simon, Joshua D.; Skrutskie, Mike; Slosar, Anze; Smethurst, Rebecca; Smith, Verne; Sobeck, Jennifer; Somers, Garrett; Souter, Barbara J.; Souto, Diogo; Spindler, Ashley; Stark, David V.; Stassun, Keivan; Steinmetz, Matthias; Stello, Dennis; Storchi-Bergmann, Thaisa; Streblyanska, Alina; Stringfellow, Guy; Suarez, Genaro; Sun, Jing; Szigeti, Laszlo; Taghizadeh-Popp, Manuchehr; Talbot, Michael S.; Tang, Baitian; Tao, Charling; Tayar, Jamie; Tembe, Mita; Teske, Johanna; Thaker, Aniruddha R.; Thomas, Daniel; Tissera, Patricia; Tojeiro, Rita; Tremonti, Christy; Troup, Nicholas W.; Urry, Meg; Valenzuela, O.; Bosch, Remco van den; Vargas-Gonzalez, Jaime; Vargas-Magana, Mariana; Vazquez, Jose Alberto; Villanova, Sandro; Vogt, Nicole; Wake, David; Wang, Yuting; Weaver, Benjamin Alan; Weijmans, Anne-Marie; Weinberg, David H.; Westfall, Kyle B.; Whelan, David G.; Wilcots, Eric; Wild, Vivienne; Williams, Rob A.; Wilson, John; Wood-Vasey, W. M.; Wylezalek, Dominika; Xiao, Ting; Yan, Renbin; Yang, Meng; Ybarra, Jason E.; Yeche, Christophe; Zakamska, Nadia; Zamora, Olga; Zarrouk, Pauline; Zasowski, Gail; Zhang, Kai; Zhao, Cheng; Zhao, Gong-Bo; Zheng, Zheng; Zhou, Zhi-Min; Zhu, Guangtun; Zinn, Joel C.; Zou, Hu
Academic Journal
Khan, Zaib Un Nisa ; Jafri, Lena ; Hall, Patricia L. ; Schultz, Matthew J. ; Ahmed, Sibtain ; Khan, Aysha Habib ; Majid, Hafsa
In Annals of Medicine and Surgery October 2022 82
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