日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction

碳酸酐酶VA缺乏症的神经影像学表现:一系列病例揭示了这种潜在可逆性线粒体功能障碍的诊断和预后模式

Fragoso, Diego Cardoso; Al-Ajmi, Eiman; Cardenas, Agustin M; Quijada-Fraile, Pilar; Biswas, Asthik; Sudhakar, Sniya; D'Arco, Felice; Mankad, Kshitij; Al-Thihli, Khalid; Bodamer, Olaf; O'Donnell-Luria, Anne; Yang, Edward; Rodan, Lance; Al-Murshedi, Fathiya; Alves, Cesar Augusto P F

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype

两名患有未经治疗的苯丙酮尿症的成年姐妹:临床表型显著不同

Demirbas, Didem; Waisbren, Susan E; Bodamer, Olaf; Hung, Christina Y; Rajabi, Farrah; Berry, Gerard; Levy, Harvey L

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

TM2D3基因的双等位基因变异会导致严重的综合征性神经发育障碍,该障碍与内质网和线粒体异常有关。

Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R

The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy

TNNT3 疾病谱的演变:从远端关节挛缩症到先天性肌病

Altin, Nami; Mamchaoui, Kamel; Ohana, Jessica; Bigot, Anne; Corradi, Beatrice; Maragliano, Luca; Madia, Francesca; Ognibene, Marzia; Nosrati, Mohammad Sadegh Shams; Paladini, Dario; Iacomino, Michele; Rashid, Asma; Bodamer, Olaf; Quijano-Roy, Susana; Punetha, Jaya; Capra, Valeria; Zara, Federico; Trollet, Capucine; Scala, Marcello

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation

EIF3K纯合变异与神经发育迟缓、小头畸形和生长迟缓相关

McGivern, Bobbi; Holling, Tess; Guillen Sacoto, Maria J; Gudbjartsson, Hákon; Abdelrazek, Ibrahim M; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E; Dyer, Lisa M; Henderson, Lindsay B; Irons, Mira; Kutsche, Kerstin; McGowan, Caroline; Monaghan, Kristin G; O'Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Multi-Group Regularized Gaussian Variational Estimation: Fast Detection of DIF

多组正则化高斯变分估计:快速检测DIF

Demirci, Ridvan Arda; Ghodsi, Alireza; Gulati, Roman; Behnia, Sanaz; Nelson, Peter S; Cheng, Heather H; Yezefski, Todd A; Haffner, Michael C; Hawley, Jessica E; Montgomery, Robert B; Yu, Evan Y; Schweizer, Michael T; Chen, Delphine L; Iravani, Amir; Libby, Julia B; Beecham, Gary; Montine, Thomas J; Toga, Arthur W; Cuccaro, Michael L; Keene, C Dirk; Larson, Eric B; Crane, Paul K; Mukherjee, Shubhabrata; Panizzon, Matthew S; Biber, Sarah A; Kukull, Walter A; Bennett, David A; Schneider, Julie A; Barnes, Lisa L; De Jager, Philip L; Menon, Vilas; Hohman, Timothy J; Dumitrescu, Logan C; Flagan, Taru M; Chu, Stephanie A; Häkkinen, Suvi; Zhang, Liwen; McFall, David; Heller, Carolin; Rohrer, Jonathan D; Brown, Jesse A; Lee, Alex Jihun; Fernhoff, Kristen; Pasquini, Lorenzo; Mandelli, Maria Luisa; Tempini, Maria Luisa Gorno; Yokoyama, Jennifer S; Sturm, Virginia; Appleby, Brian; Dickerson, Brad C; Domoto‐Reilly, Kimiko; Foroud, Tatiana M; Geschwind, Daniel H; Ghoshal, Nupur; Graff‐Radford, Neill R; Grossman, Murray; Hsiung, Ging‐Yuek Robin; Huang, Eric J; Huey, Edward D; Kantarci, Kejal; Karydas, Anna M; Kaufer, Daniel; Knopman, David S; Litvan, Irene; MacKenzie, Ian R; Mendez, Mario F; Onyike, Chiadi U; Petrucelli, Leonard; Ramos, Eliana Marisa; Roberson, Erik D; Rojas, Julio C; Tartaglia, Maria Carmela; Toga, Arthur W; Weintraub, Sandra; Forsberg, Leah K; Heuer, Hilary W; Boeve, Brad F; Boxer, Adam L; Rosen, Howard J; Miller, Bruce L; Moreno, Fermin; Seeley, William W; Lee, Suzee E; Katsumata, Yuriko; Wu, Xian; Aung, Khine Zin; Tsuchiya, Inori; Shade, Lincoln MP; Karanth, Shama D; Gauthreaux, Kathryn; Mock, Charles; Kukull, Walter A; Abner, Erin L; Nelson, Peter T; Fardo, David W; Gomez, Melisa Lara; Beecham, Gary; Montine, Thomas J; Cuccaro, Michael L; Toga, Arthur W; Keene, C Dirk; Crane, Paul K; Mukherjee, Shubhabrata; Panizzon, Matthew S; Biber, Sarah A; Kukull, Walter A; Bennett, David A; Barnes, Lisa L; Schneider, Julie A; De Jager, Philip L; Menon, Vilas; Hohman, Timothy J; Dumitrescu, Logan C; Triolo, Em; Langan, Mackenzie; Khegai, Oleksandr; Diaz, Aislinn; Binder, Sarah; Hedden, Trey; Balchandani, Priti; Kurt, Mehmet; Register, Thomas C; Frye, Brett M; Negrey, Jacob D; Johnson, Corbin SC; Snyder‐Mackler, Noah; Craft, Suzanne; Montine, Thomas J; Shively, Carol A; Gallée, Jeanne; Gibbons, Laura E; Mukherjee, Shubhabrata; Scollard, Phoebe; Choi, Seo‐Eun; James, Bryan D; Klinedinst, Brandon S; Lee, Michael L; Mez, Jesse; Trittschuh, Emily H; Saykin, Andrew J; Crane, Paul K; Wang, Ting‐Chen; Archer, Derek B; Ali, Muhammad; Wu, Yiyang; Mormino, Elizabeth; Buckley, Rachel F; Lee, Annie J; Saykin, Andrew J; De Jager, Philip L; Schneider, Julie A; Bennett, David A; Barnes, Lisa L; Vardarajan, Badri N; Mayeux, Richard; Kunkle, Brian W; Bush, William S; Keene, C Dirk; Seshadri, Sudha; Sperling, Reisa A; Vemuri, Prashanthi; Ramanan, Vijay K; Schellenberg, Gerard D; Huentelman, Matthew J; Hamilton‐Nelson, Kara L; Pericak‐Vance, Margaret A; Goate, Alison M; Haines, Jonathan L; Montine, Thomas J; Beecham, Gary W Jr; Cruchaga, Carlos; Hohman, Timothy J; Dumitrescu, Logan C; Kraemer, Brian C; Riordan, Ruben; Lee, Annie J; Cui, Zuoqiao; Song, Zhengwei; Reyes‐Dumeyer, Dolly; De Jager, Philip L; Bennett, David A; Schneider, Julie A; Menon, Vilas; Wang, Yanling; Lantigua, Rafael A; Medrano, Martin; Mejia, Diones Rivera; Jiménez‐Velázquez, Ivonne Z; Kukull, Walter A; Biber, Sarah A; Brickman, Adam M; Tosto, Giuseppe; Kizil, Caghan; Farrer, Lindsay A; Mez, Jesse; Chung, Jaeyoon; Vardarajan, Badri N; Mayeux, Richard; Filippova, Gala N; Casad, Michelle; Groneck, Camille; Hui, Katherine; Mishra, Swati; MacDonald, James W; Bammler, Theo; Van Dyke, Daniel L; Skakkebaek, Anna; Gravholt, Claus H; Mathieu, Julie; Deng, Xinxian; Berletch, Joel B; Jayadev, Suman; Disteche, Christine M; Young, Jessica E; Durant, Alaina; Mukherjee, Shubhabrata; Lee, Michael L; Choi, Seo‐Eun; Scollard, Phoebe; Trittschuh, Emily H; Mez, Jesse; Bush, William S; Kunkle, Brian W; Naj, Adam C; Gifford, Katherine A; Cuccaro, Michael L; Cruchaga, Carlos; Hassenstab, Jason J; Pericak‐Vance, Margaret A; Farrer, Lindsay A; Wang, Li‐San; Haines, Jonathan L; Jefferson, Angela L; Kukull, Walter A; Keene, C Dirk; Saykin, Andrew J; Thompson, Paul M; Martin, Eden R; Bennett, David A; Barnes, Lisa L; Schneider, Julie A; Albert, Marilyn S; Johnson, Sterling C; Engelman, Corinne D; Mayeux, Richard; Vardarajan, Badri N; Crane, Paul K; Dumitrescu, Logan C; Hohman, Timothy J; Gaynor, Leslie S; Webster, Jason; Shojaie, Ali; Shen, Yiqin Alicia; Le, Tung; MacDonald, Christine; Latimer, Caitlin S; Keene, C Dirk; Grabowski, Thomas J; Toscano, Laura Garcia; Hincks, Joshua C; McMillan, Pamela J; Baum, Misa; Waldherr, Sarah M; Kraemer, Brian C; Liachko, Nicole F; Kerman, Bilal Ersen; Junge, Jason A; Fayzullina, Marina; Wang, Jinliang; Yang, Lucia Z; Meuret, Cristiana Joy; Mertens, Jerome; Seidler, Paul; Fraser, Scott; Yassine, Hussein N; Funk, Cory C; Darvas, Martin; Johnston, Christine; Robinson, Max; Schaffer, Caitlyn; Battaglia, Christian; Aubert, Martine; Wiley, Jesse C; Schwarze‐Taufiq, Tiara A; Pranoto, Inez; Hui, Katherine; Ogg, Jordan; Zhu, Ruowei; Crane, Paul K; Gray, Shelly L; Young, Jessica E; Contreras, Alex G; Walters, Skylar; Eissman, Jaclyn M; Archer, Derek B; Regelson, Alexandra N; Durant, Alaina; Mukherjee, Shubhabrata; Lee, Michael L; Choi, Seo‐Eun; Scollard, Phoebe; Trittschuh, Emily H; Mez, Jesse; Bush, William S; Kunkle, Brian W; Naj, Adam C; Gifford, Katherine A; Bilgel, Murat; Kuzma, Amanda B; Cuccaro, Michael L; Cruchaga, Carlos; Pericak‐Vance, Margaret A; Farrer, Lindsay A; Wang, Li‐San; Schellenberg, Gerard D; Mayeux, Richard; Haines, Jonathan L; Jefferson, Angela L; Kukull, Walter A; Keene, C Dirk; Saykin, Andrew J; Thompson, Paul M; Martin, Eden R; Albert, Marilyn S; Johnson, Sterling C; Engelman, Corinne D; Ferrucci, Luigi; Bennett, David A; Barnes, Lisa L; Schneider, Julie A; Resnick, Susan M; Sperling, Reisa A; Crane, Paul K; Dumitrescu, Logan C; Hohman, Timothy J; Mishra, Swati; Williams, Charles A; Young, Jessica E; Darvas, Martin; Rachleff, Victoria M; Mahoney, Joseph T; Travaglini, Kyle J; Gabitto, Mariano I; Hodge, Rebecca D; Keene, C Dirk; Lein, Ed S; Dacey, Ryan; Han, Xudong; Moore, Mackenzie R; Chung, Jaeyoon; Durape, Shruti; Rosenthaler, Max; Uretsky, Madeline; Abdolmohammadi, Bobak; Lee, Annie J; Brickman, Adam M; Hohman, Timothy J; Cuccaro, Michael L; Bennett, David A; Crane, Paul K; Kamboh, M Ilyas; Kukull, Walter A; Au, Rhoda; Haines, Jonathan L; Pericak‐Vance, Margaret A; Schellenberg, Gerard D; Mayeux, Richard; Lunetta, Kathryn L; Farrer, Lindsay A; Mez, Jesse; Dutta, Aheli; Broome, Jai; Sinha, Sagnik; Gibbons, Laura E; Shade, Lincoln MP; Katsumata, Yuriko; Travaglini, Kyle J; Gabitto, Mariano I; Zhao, Zijie; Lu, Qiongshi; Schneider, Julie A; Latimer, Caitlin S; Keene, C Dirk; Crane, Paul K; Fardo, David W; Mukherjee, Shubhabrata; Elbert, Donald L; Jadhav, Vaishnavi; Eck, Randall; Smukowski, Samuel; Toscano, Laura Garcia; Latimer, Caitlin S; Valdmanis, Paul N; Kraemer, Brian C; Liachko, Nicole F; Prater, Katherine E; Rose, Shannon; Johnson, Corbin SC; Strohbehn, Sam; Cochoit, Alexandra J; Mamde, Sainath; Sun, Wei; Keene, C Dirk; Shojaie, Ali; Garden, Gwenn A; Blue, Elizabeth E; Young, Jessica E; Jayadev, Suman; Gutierrez, Berenice A; Moreno, Naomi; Keene, C Dirk; Limon, Agenor; Wang, Dongyu; Choi, Seung Hoan; Abbruzzese, Sabrina; Rosser, Morgan A; Bis, Joshua C; Fornage, Myriam; Boerwinkle, Eric; Satizabal, Claudia L; Psaty, Bruce M; Lopez, Oscar L; Mosley, Thomas H; Wang, Yanbing; Dupuis, Josée; DeStefano, Anita L; Seshadri, Sudha; Peloso, Gina M; Choi, Seo‐Eun; Scollard, Phoebe; Mukherjee, Shubhabrata; Gibbons, Laura E; Lee, Michael L; Klinedinst, Brandon S; Gallée, Jeanne; Sugimoto, Taiki; Nakano, Connie; Kukull, Walter A; Biber, Sarah A; Trittschuh, Emily H; Mez, Jesse; Saykin, Andrew J; Crane, Paul K; Kraemer, Brian C; Han, Marina; Dehkordi, Shiva Kazempour; Orr, Timothy C; Bodamer, Ryan H; Hudson, Hannah R; Sun, Victoria; Keene, C Dirk; Zare, Habil; Orr, Miranda E; Ly, Monica T; Altaras, Caroline; Tripodis, Yorghos; Adler, Charles; Balcer, Laura; Bernick, Charles B; Zetterberg, Henrik; Blennow, Kaj; Peskind, Elaine R; Banks, Sarah; Barr, William B; Wethe, Jennifer V; Bondi, Mark W; Delano‐Wood, Lisa; Cantu, Robert C; Coleman, Michael J; Dodick, David W; Mez, Jesse; Palmisano, Joseph N; Martin, Brett; Lin, Alexander P; Bouix, Sylvain; Cummings, Jeffrey L; Reiman, Eric M; Shenton, Martha E; Stern, Robert A; Alosco, Michael L; Keene, C Dirk; Lee, Songmi; Xia, Rui; English, Adam C; Peloso, Gina M; Bis, Josh; Lin, Honghuang; Choi, Seung Hoan; Heard‐Costa, Nancy; DeStefano, Anita L; Sedlazeck, Fritz J; Fornage, Myriam; Dacey, Ryan; Durape, Shruti; Wang, Mengyao; Hwang, Phillip H; Gurnani, Ashita S; Ang, Ting Fang Alvin; Devine, Sherral A; Choi, Seo‐Eun; Lee, Michael L; Scollard, Phoebe; Gibbons, Laura E; Mukherjee, Shubhabrata; Trittschuh, Emily H; Sherva, Richard; Dumitrescu, Logan C; Hohman, Timothy J; Cuccaro, Michael L; Saykin, Andrew J; Crane, Paul K; Li, Yi; Levy, Daniel; Ma, Jiantao; Liu, Chunyu; Lunetta, Kathryn L; Au, Rhoda; Farrer, Lindsay A; Mez, Jesse; Aslanyan, Aram; Mukherjee, Soumya; Dulewicz, Maciej; Coyle, Reid; He, Yingxin; Sato, Chihiro; Ghoshal, Nupur; Ge, Junyue; Moncur, Eleanor; Koutarapu, Srinivas; Camporesi, Elena; Thorne, Lewis; Toma, Ahmed; Schwetye, Katherine; Roberts, Kaleigh F; Watkins, Laurence; Elbert, Donald L; Bateman, Randall J; Hanrieder, Jörg; Paterson, Ross W; Robinson‐Cooper, Larissa; Davidson, Stephanie; Koutoubi, Rami; Barker‐Haliski, Melissa; Altaras, Caroline; Ly, Monica T; Barr, William B; Banks, Sarah; Wethe, Jennifer V; Tripodis, Yorghos; Adler, Charles; Balcer, Laura; Bernick, Charles B; Cantu, Robert C; Dodick, David W; Mez, Jesse; Palmisano, Joseph N; Martin, Brett; Cummings, Jeffrey L; Reiman, Eric M; Shenton, Martha E; Stern, Robert A; Katz, Douglas I; Weller, Jason; Geda, Yonas E; Alosco, Michael L; Lyu, Weicong; Wang, Chun; Xu, Gongjun

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

Characterization of central manifestations in patients with Niemann-Pick disease type C

尼曼-匹克病C型患者中枢神经系统表现的特征

van Gool, Raquel; Golden, Emma; Goodlett, Benjamin; Zhang, Fan; Vogel, Adam P; Tourville, Jason A; Yao, Kylie; Cay, Mariesa; Tiwari, Sneham; Yang, Edward; Zekelman, Leo R; Todd, Nick; O'Donnell, Lauren J; Ren, Boyu; Bodamer, Olaf A; Al-Hertani, Walla; Upadhyay, Jaymin