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

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

Mesenchymal stromal cell infusions of umbilical cord-derived mesenchymal stromal cells in children with recessive dystrophic epidermolysis bullosa (MissionEB): a randomised, double-blind, placebo controlled, crossover, phase 3 trial with an internal phase 1 dose de-escalation phase

脐带间充质干细胞输注治疗隐性营养不良型大疱性表皮松解症患儿(MissionEB):一项随机、双盲、安慰剂对照、交叉设计的3期临床试验,并包含内部1期剂量递减阶段。

Bageta, Maria L; Lopez-Balboa, Pablo; Bursnall, Matt; Glover, Rachel; Hutchence, Kate; Papaioannou, Diana; Biggs, Katie; Julious, Steven; Wilson, Isabelle; Tappenden, Paul; Turton, Emily; Ditta, Shamila; Ogboli, Malobi; Lovgren, Marie-Louise; Poudel, Pratima; Nadeem, Muna; McGrath, John A; Cooper, Cindy; Petrof, Gabriela; Martinez, Anna E

Mesenchymal intravenous stromal cell infusions in children with recessive dystrophic epidermolysis bullosa: MissionEB protocol for a randomised, double-blinded, placebo-controlled, two-centre, crossover trial with an internal phase I dose de-escalation phase and open-label extension

间充质干细胞静脉输注治疗隐性营养不良型大疱性表皮松解症患儿:MissionEB方案,一项随机、双盲、安慰剂对照、双中心、交叉试验,包含内部I期剂量递减阶段和开放标签扩展期。

Bageta, Maria L; López-Balboa, Pablo; Dimairo, Munyaradzi; Glover, Rachel; Hutchence, Kate; Papaioannou, Diana; Cooper, Cindy; Biggs, Katie; Tappenden, Paul; Ennis, Katherine; Ogboli, Malobi; Lovgren, Marie-Louise; Poudel, Pratima; Nadeem, Muna; McGrath, John A; Julious, Steven A; Petrof, Gabriela; Martinez, Anna E

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

一名患有神经发育障碍和免疫缺陷的患者体内存在新生TLK1和MDM1突变

Marina Villamor-Payà ,María Sanchiz-Calvo ,Jordann Smak ,Lynn Pais ,Malika Sud ,Uma Shankavaram ,Alysia Kern Lovgren ,Christina Austin-Tse ,Vijay S Ganesh ,Marina Gay ,Marta Vilaseca ,Gianluca Arauz-Garofalo ,Lluís Palenzuela ,Grace VanNoy ,Anne O'Donnell-Luria ,Travis H Stracker

Efficacy and safety of ciclosporin versus methotrexate in the treatment of severe atopic dermatitis in children and young people (TREAT): a multicentre parallel group assessor-blinded clinical trial

环孢素与甲氨蝶呤治疗儿童和青少年重度特应性皮炎的疗效和安全性比较(TREAT):一项多中心平行组评估者盲法临床试验

Flohr, Carsten; Rosala-Hallas, Anna; Jones, Ashley P; Beattie, Paula; Baron, Susannah; Browne, Fiona; Brown, Sara J; Gach, Joanna E; Greenblatt, Danielle; Hearn, Ross; Hilger, Eva; Esdaile, Ben; Cork, Michael J; Howard, Emma; Lovgren, Marie-Louise; August, Suzannah; Ashoor, Farhiya; Williamson, Paula R; McPherson, Tess; O'Kane, Donal; Ravenscroft, Jane; Shaw, Lindsay; Sinha, Manish D; Spowart, Catherine; Taams, Leonie S; Thomas, Bjorn R; Wan, Mandy; Sach, Tracey H; Irvine, Alan D

Postpartum medical management of hypertension and risk of readmission for hypertensive complications

产后高血压的医疗管理及高血压并发症再入院风险

Lovgren, Todd; Connealy, Brendan; Yao, Ruofan; D Dahlke, Joshua

Characteristics associated with high hospital spending over 1 year among patients hospitalised for COVID-19 in the USA: a cohort study

美国新冠肺炎住院患者一年内高额住院费用的相关特征:一项队列研究

Nair-Desai, Sameer; Chambers, Laura C; Soto, Mark J; Behr, Caroline; Lovgren, Leah; Zandstra, Tamsin; Rivkees, Scott A; Rosenthal, Ning; Beaudoin, Francesca L; Tsai, Thomas C

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

鉴定出与神经发育障碍和免疫缺陷相关的 TLK1 新发突变

Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O'Donnell-Luria, Travis H Stracker

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

近亲结婚家庭中,三重外显子组测序对神经遗传疾病的诊断率很高。

Hiz Kurul, Semra; Oktay, Yavuz; Töpf, Ana; Szabó, Nóra Zs; Güngör, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, İpek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Özgör, Bilge; Lochmüller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Müller, Juliane S; Hathazi, Denisa; Chinnery, Patrick F; Laurie, Steven; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita