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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Dominguez Gonzalez, Carlos A; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

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

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

Glial Origins of Inherited White Matter Disorders

遗传性白质疾病的神经胶质起源

Sevagamoorthy, Anjana; Vanderver, Adeline; Fraser, Jamie L; Orthmann-Murphy, Jennifer

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

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

单发大规模线粒体缺失综合征:儿科患者的神经影像学表型和纵向进展

Alves, Cesar A P F; Rossi-Espagnet, Maria Camilla; Perez, Francisco; Manteghinejad, Amirreza; Peterson, James T; Ganetzky, Rebecca; Napolitano, Antonio; Grassi, Francesco; George-Sankoh, Ibrahim; Yildiz, Harun; Muraresku, Colleen; Falk, Marni J; Martinelli, Diego; Longo, Daniela; Vanderver, Adeline; Gandolfo, Carlo; Saneto, Russell P; Goldstein, Amy; Vossough, Arastoo

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Comprehensive genotype-phenotype analysis in POLR3-related disorders

POLR3相关疾病的综合基因型-表型分析

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Gauthier, Samuel; Derksen, Alexa; Sabbagh, Quentin; Girbig, Mathias; Misiaszek, Agata D; Pizzino, Amy M; Renaud, Deborah L; De Assis Pereira, Danilo; Okuda, Paola; Karoleska, Luciana Maestri; Keller, Stephanie; Chong, Karen; Gauquelin, Laurence; Brais, Bernard; Leube, Barbara; Grider, Tiffany; Shy, Michael E; Schüle, Rebecca; Minnerop, Martina; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Müller, Christoph W; Vanderver, Adeline; Wolf, Nicole I; Bernard, Geneviève