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

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity

ADCY5相关运动障碍:关于特征性表现和变异相关严重程度的评论

Raskind, Wendy H; Friedman, Jennifer R; Roze, Emmanuel; Méneret, Aurélie; Chen, Dong-Hui; Bird, Thomas D

Low CSF 5-HIAA in Myoclonus Dystonia

肌阵挛性肌张力障碍患者脑脊液中5-HIAA含量低

Peall, Kathryn J; Ng, Joanne; Dy, Marisela E; Sharma, Nutan; Pope, Simon; Heales, Simon; Friedman, Jennifer R; Kurian, Manju A

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

ADCY5基因突变携带者表现出多效性阵发性日间和夜间运动障碍

Friedman, Jennifer R; Méneret, Aurélie; Chen, Dong-Hui; Trouillard, Oriane; Vidailhet, Marie; Raskind, Wendy H; Roze, Emmanuel

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Koolen-de Vries综合征:17q21.31微缺失患者与KANSL1序列变异患者的表型比较

Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert B A

Toward clinical genomics in everyday medicine: perspectives and recommendations

迈向日常医学中的临床基因组学:展望与建议

Delaney, Susan K; Hultner, Michael L; Jacob, Howard J; Ledbetter, David H; McCarthy, Jeanette J; Ball, Michael; Beckman, Kenneth B; Belmont, John W; Bloss, Cinnamon S; Christman, Michael F; Cosgrove, Andy; Damiani, Stephen A; Danis, Timothy; Delledonne, Massimo; Dougherty, Michael J; Dudley, Joel T; Faucett, W Andrew; Friedman, Jennifer R; Haase, David H; Hays, Tom S; Heilsberg, Stu; Huber, Jeff; Kaminsky, Leah; Ledbetter, Nikki; Lee, Warren H; Levin, Elissa; Libiger, Ondrej; Linderman, Michael; Love, Richard L; Magnus, David C; Martland, AnneMarie; McClure, Susan L; Megill, Scott E; Messier, Helen; Nussbaum, Robert L; Palaniappan, Latha; Patay, Bradley A; Popovich, Bradley W; Quackenbush, John; Savant, Mark J; Su, Michael M; Terry, Sharon F; Tucker, Steven; Wong, William T; Green, Robert C

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations

ADCY5相关运动障碍:更广泛的谱系和基因型-表型相关性

Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S; Stessman, Holly A; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M; Mackenzie, Katherine M; Swanson, Phillip D; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M; Dorschner, Michael O; Weiss, Michael; Eichler, Evan E; Torkamani, Ali; Roze, Emmanuel; Bird, Thomas D; Raskind, Wendy H

A genome sequencing program for novel undiagnosed diseases

针对新型未确诊疾病的基因组测序计划

Bloss, Cinnamon S; Zeeland, Ashley A Scott-Van; Topol, Sarah E; Darst, Burcu F; Boeldt, Debra L; Erikson, Galina A; Bethel, Kelly J; Bjork, Robert L; Friedman, Jennifer R; Hwynn, Nelson; Patay, Bradley A; Pockros, Paul J; Scott, Erick R; Simon, Ronald A; Williams, Gary W; Schork, Nicholas J; Topol, Eric J; Torkamani, Ali

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

家族性运动障碍伴面肌阵挛中的ADCY5功能获得性突变

Chen, Ying-Zhang; Friedman, Jennifer R; Chen, Dong-Hui; Chan, Guy C-K; Bloss, Cinnamon S; Hisama, Fuki M; Topol, Sarah E; Carson, Andrew R; Pham, Phillip H; Bonkowski, Emily S; Scott, Erick R; Lee, Janel K; Zhang, Guangfa; Oliveira, Glenn; Xu, Jian; Scott-Van Zeeland, Ashley A; Chen, Qi; Levy, Samuel; Topol, Eric J; Storm, Daniel; Swanson, Phillip D; Bird, Thomas D; Schork, Nicholas J; Raskind, Wendy H; Torkamani, Ali