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

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis

脑瘫基因检测结果的临床应用价值:系统评价和荟萃分析

Lewis, Sara A; Chopra, Maya; Cohen, Julie S; Bain, Jennifer M; Aravamuthan, Bhooma; Carmel, Jason B; Fahey, Michael C; Segel, Reeval; Wintle, Richard F; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

评估致病性DNA变异是否适合接受反义寡核苷酸治疗的共识指南

Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S Y; Morgan, Jack T; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder

CDKL5 5'非翻译区缺失会导致CDKL5缺乏症

Haviland, Isabel; Hector, Ralph D; Swanson, Lindsay C; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A; Marsh, Eric D; Weisenberg, Judith L; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K; Schreiber, John M; Demarest, Scott; Benke, Timothy A; Chopra, Maya; Yu, Timothy W; Olson, Heather E

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

在电子健康记录中查找隐藏的基因检测结果效率低下,而且不同机构之间的差异也很大。

Veatch, Olivia J; Mathew, Jomol; Rockowitz, Shira; Baldridge, Dustin; Wetzel, Alyssa; Niarchou, Maria; Clarke, Megan; Shankar, Prabhu; Shankar, Suma; Cohen, Julie S; German, Kendell; Berger, Seth; Sellitto, Angela; Oh, Inez Y; Raizada, Rashi; Sliz, Piotr; Soby, Selvin; Kaplarevic, Mihailo; Doherty, Dan; Gropman, Andrea; Smith-Hicks, Constance; Neul, Jeffrey L; Lanzotti, Virginia; Darbro, Benjamin; Chang, Qiang; Sahin, Mustafa; Chopra, Maya

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

RINT1基因的双等位基因变异表现为早发性纯遗传性痉挛性截瘫

Quiroz, Vicente; Planas-Serra, Laura; Sveden, Abigail; Tam, Amy; Kim, Hyo-Min; Zubair, Umar; Resch, Dario; Saffari, Afshin; Danzi, Matt C; Züchner, Stephan; Chopra, Maya; Schierbaum, Luca; Pujol, Aurora; Eklund, Erik A; Ebrahimi-Fakhari, Darius

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

社会现状调查:神经发育障碍基因检测实践指南

Srivastava, Siddharth; Cole, Jordan J; Cohen, Julie S; Chopra, Maya; Smith, Hadley Stevens; Deardorff, Matthew A; Pedapati, Ernest; Corner, Brian; Anixt, Julia S; Jeste, Shafali; Sahin, Mustafa; Gurnett, Christina A; Campbell, Colleen A

Clinical variants paired with phenotype: A rich resource for brain gene curation

临床变异与表型相结合:脑基因注释的丰富资源

Chopra, Maya; Savatt, Juliann M; Bingaman, Taylor I; Good, Molly E; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M; VanHoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L; Sahin, Mustafa; Payne, Philip R O; Riggs, Erin Rooney; Constantino, John N