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

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up

使用磁共振兼容套管对芳香族L-氨基酸脱羧酶缺乏症患儿进行壳核内注射Eladocagene Exuparvovec的药效学、疗效和安全性研究:48周随访

Curry, Daniel J; Pearl, Phillip L; Stone, Scellig S D; Gilbert, Donald L; Vadivelu, Sudhakar; Ben-Zeev, Bruria; Vestal, Matthew; Zafar, Muhammad; Tai, Chun-Hwei; Chou, Sheng-Che; Zibly, Zion; Ungar, Lior; Parnes, Mered; Hull, Mariam; Emrick, Lisa; Werner, Christian; Krolick, Alexis; Penematsa, Vinay; Wang, Antonia; Rahman, Rezwanur; Golden, Lee; Chien, Yin-Hsiu; Hwu, Paul Wuh-Liang

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay C; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

将 ABCD1 变异作为外显子组和基因组测序中可操作的次要发现进行报告

Dominguez Gonzalez, Carlos A; Spinner, Nancy B; Ahrens-Nicklas, Rebecca C; Young, Lisa R; Voss, Laura A; Reichert, Sara L; Gallo, Daniel J; Cohen, Julie S; Bonkowsky, Joshua L; Keller, Stephanie R; Bennett, Mariko L; Pizzino, Amy M; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L; Emerson, Felicity J; Miettunen, Kelly; Fatemi, Ali; Van Haren, Keith P; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome

在先前被诊断为Fine-Lubinsky综合征的一对同胞中,DPH1基因的隐性功能缺失变异被确定为分子病因。

Waskow, Emily R; Emrick, Lisa T; Rosenfeld, Jill A; Ketkar, Shamika; Burrage, Lindsay C; Scott, Daryl A

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

脑白质营养不良患者的临床重要终点:一项多中心研究

Kotes, Emma R; Woidill, Sarah; D'Aiello, Russell; Khan, Amina; McCann, Jacob; Ramos, Mark; Gavazzi, Francesco; Keller, Stephanie; Van Haren, Keith; Fatemi, Ali; Eichler, Florian; Bonkowsky, Joshua; Fraser, Jamie; Emrick, Lisa; Sherbini, Omar; Hackett, Ashley; Gauna, Jeilo; Amos, Dandre; Goodman, Jordan; Fine, Amena Smith; Nagy, Amanda; Lee, Seungil; Page, Nicole; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Bennett, Mariko; Waldman, Amy; Shults, Justine; Adang, Laura; Grundmeier, Robert; Vanderver, Adeline

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay; Hubshman, Monika Weisz; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

由 lncRNA 基因 CHASERR 缺失引起的神经发育障碍

Ganesh, Vijay S; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C; Monin, Pauline; O'Leary, Melanie C; Goodrich, Julia K; Garimella, Kiran V; England, Eleina; Weisburd, Ben; Aguet, François; Bacino, Carlos A; Murdock, David R; Dai, Hongzheng; Rosenfeld, Jill A; Emrick, Lisa T; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisée; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; MacArthur, Daniel G; Ulitsky, Igor; Carvill, Gemma L; O'Donnell-Luria, Anne

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S