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

Medicinal cannabis plant extract (NTI164) modifies epigenetic, ribosomal, and immune pathways in paediatric acute-onset neuropsychiatric syndrome

药用大麻植物提取物(NTI164)可改变儿童急性起病神经精神综合征的表观遗传、核糖体和免疫通路。

Keating, Brooke A; Han, Velda X; Nishida, Hiroya; Aryamanesh, Nader; Marshall, Lee L; Gloss, Brian S; Lau, Xianzhong; Dissanayake, Ruwani; Dervish, Suat; Graham, Mark E; Mohammad, Shekeeb S; Kanhangad, Manoj; Fahey, Michael C; Patel, Shrujna; Dale, Russell C

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

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study

脑瘫患儿MRI模式的基因诊断率:一项基于人群的研究

Berry, Jesia G; Taranath, Ajay; Goetti, Robert; Farrar, Michelle A; Fiori, Simona; Pham, Huy-Dat; Mittinty, Murthy N; Corbett, Mark A; Palmer, Lyle J; Fornarino, Dani L; Harper, Kelly; Gibson, Catherine S; Leishman, Shaneen J; Goldsmith, Shona C; McIntyre, Sarah J; Montgomerie, Alicia; Pilkington, Rhiannon M; Lynch, John W; Russo, Remo N; Fahey, Michael C; Fripp, Jurgen; Boyd, Roslyn N; Wright, Margaret J; Rice, James E; Waugh, Mary-Clare; MacLennan, Alastair H; Gecz, Jozef; van Eyk, Clare L

Opportunities and challenges for paediatricians requesting funded genomic tests for children

儿科医生申请儿童基因组检测资助的机遇与挑战

Dawson-McClaren, Belinda; Martyn, Melissa; Ince, Jessica; Jan, Alli; Brown, Natasha J; Fahey, Michael C; Crellin, Erin; Gaff, Clara

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease

CLN2 和 CLN3 巴顿病患者的言语、语言和非言语交流

Morison, Lottie D; Whiteman, Ineka T; Vogel, Adam P; Tilbrook, Lisa; Fahey, Michael C; Braden, Ruth; Bredebusch, Joanna; Hildebrand, Michael S; Scheffer, Ingrid E; Morgan, Angela T

Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care

线粒体疾病女性妊娠——文献综述及孕前和孕期保健指导建议

Hui, Lisa; Hayman, Pema; Buckland, Ali; Fahey, Michael C; Mackey, David A; Mallett, Andrew J; Schweitzer, Daniel R; Stuart, Clare P; Yau, Wai Yan; Christodoulou, John

Development and Validation of a Stakeholder-Driven, Self-Contained Electronic Informed Consent Platform for Trio-Based Genomic Research Studies

开发和验证以利益相关者为主导的、独立的电子知情同意平台,用于基于三联体的基因组研究

Norton, Bethany Y; Liu, James; Lewis, Sara A; Magee, Helen; Kruer, Tyler N; Dinh, Rachael; Bakhtiari, Somayeh; Nordlie, Sandra H; Shetty, Sheetal; Heim, Jennifer; Nishiyama, Yumi; Arango, Jorge; Johnson, Darcy; Seabrooke, Lee; Shub, Mitchell; Rosenberg, Robert; Shusterman, Michele; Wisniewski, Stephen; Cooper, Blair; Rothwell, Erin; Fahey, Michael C; Shrader, M Wade; Lennon, Nancy; Oleszek, Joyce; Pierce, Wendy; Fleming, Hannah; Belthur, Mohan; Tinto, Jennifer; Noritz, Garey; Glader, Laurie; Steffen, Kelsey; Walker, William; Grenard, Deborah; Aravamuthan, Bhooma; Bjornson, Kristie; Joseph, Malin; Gross, Paul; Kruer, Michael C

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Early administration of umbilical cord blood cells following brief high tidal volume ventilation in preterm sheep: a cautionary tale

早产绵羊短暂高潮气量通气后早期输注脐带血细胞:一个警示故事

Tran, Nhi T; Penny, Tayla R; Chan, Kyra Yy; Tang, Tanya; Papagianis, Paris C; Sepehrizadeh, Tara; Nekkanti, Lakshmi; Zahra, Valerie A; Pham, Yen; Yawno, Tamara; Nitsos, Ilias; Kelly, Sharmony B; Thiel, Alison M; de Veer, Michael; Alahmari, Dhafer M; Fahey, Michael C; Jenkin, Graham; Miller, Suzanne L; Galinsky, Robert; Polglase, Graeme R; McDonald, Courtney A