|
| | Publication Year | Title | Author(s) |
| 41 | Oct-2023 | Toward responsible clinical n-of-1 strategies for rare diseases. | Defelippe, Victoria M; J M W van Thiel, Ghislaine; Otte, Willem M; Schutgens, Roger E G; Stunnenberg, Bas; Cross, Helen J; O'Callaghan, Finbar; De Giorgis, Valentina; Jansen, Floor E; Perucca, Emilio; Brilstra, Eva H; Braun, Kees P J |
| 42 | Oct-2023 | Plasma proteomic associations with genetics and health in the UK Biobank. | Sun, Benjamin B; Chiou, Joshua; Traylor, Matthew; Benner, Christian; Hsu, Yi-Hsiang; Richardson, Tom G; Surendran, Praveen; Mahajan, Anubha; Robins, Chloe; Vasquez-Grinnell, Steven G; Hou, Liping; Kvikstad, Erika M; Burren, Oliver S; Davitte, Jonathan; Ferber, Kyle L; Gillies, Christopher E; Hedman, Åsa K; Hu, Sile; Lin, Tinchi; Mikkilineni, Rajesh; Pendergrass, Rion K; Pickering, Corran; Prins, Bram; Baird, Denis; Chen, Chia-Yen; Ward, Lucas D; Deaton, Aimee M; Welsh, Samantha; Willis, Carissa M; Lehner, Nick; Arnold, Matthias; Wörheide, Maria A; Suhre, Karsten; Kastenmüller, Gabi; Sethi, Anurag; Cule, Madeleine; Raj, Anil; Burkitt-Gray, Lucy; Melamud, Eugene; Black, Mary Helen; Fauman, Eric B; Howson, Joanna M M; Kang, Hyun Min; McCarthy, Mark I; Nioi, Paul; Petrovski, Slavé; Scott, Robert A; Smith, Erin N; Szalma, Sándor; Waterworth, Dawn M; Mitnaul, Lyndon J; Szustakowski, Joseph D; Gibson, Bradford W; Miller, Melissa R; Whelan, Christopher D |
| 43 | Oct-2023 | Rare variant associations with plasma protein levels in the UK Biobank. | Dhindsa, Ryan S; Burren, Oliver S; Sun, Benjamin B; Prins, Bram P; Matelska, Dorota; Wheeler, Eleanor; Mitchell, Jonathan; Oerton, Erin; Hristova, Ventzislava A; Smith, Katherine R; Carss, Keren; Wasilewski, Sebastian; Harper, Andrew R; Paul, Dirk S; Fabre, Margarete A; Runz, Heiko; Viollet, Coralie; Challis, Benjamin; Platt, Adam; Vitsios, Dimitrios; Ashley, Euan A; Whelan, Christopher D; Pangalos, Menelas N; Wang, Quanli; Petrovski, Slavé |
| 44 | Oct-2023 | Renin-angiotensin-aldosterone system dynamics after targeted blood pressure control using angiotensin II or norepinephrine in cardiac surgery: mechanistic randomised controlled trial. | Coulson, Tim G ; Miles, Lachlan F ; Zarbock, Alex; Burrell, Louise M ; Patel, Sheila K ; von Groote, Thilo; Pilcher, David; Weinberg, Laurence ; Landoni, Giovanni; Bellomo, Rinaldo |
| 45 | Oct-2023 | Deep learning for automated detection of generalized paroxysmal fast activity in Lennox-Gastaut syndrome. | Nurse, Ewan S; Dalic, Linda J ; Clarke, Shannon; Cook, Mark; Archer, John S |
| 46 | 21-Sep-2023 | Tau suppresses microtubule-regulated pancreatic insulin secretion. | Mangiafico, Salvatore P; Tuo, Qing-Zhang; Li, Xiao-Lan; Liu, Yu; Haralambous, Christian; Ding, Xu-Long; Ayton, Scott; Wang, Qing; Laybutt, D Ross; Chan, Jeng Yie; Zhang, Xiang; Kos, Cameron; Thomas, Helen E; Loudovaris, Thomas; Yang, Chieh-Hsin; Joannides, Christos N; Lamont, Benjamin J; Dai, Lunzhi; He, Hai-Huai; Dong, Biao; Andrikopoulos, Sofianos; Bush, Ashley I; Lei, Peng |
| 47 | 19-Sep-2023 | The effect of gender-affirming hormone therapy on hair growth: A systematic review of the literature. | Tang, Gia Toan; Zwickl, Sav; Sinclair, Rodney; Zajac, Jeffrey D ; Cheung, Ada S |
| 48 | 5-Sep-2023 | Early Access to Testosterone Therapy in Transgender and Gender-Diverse Adults Seeking Masculinization: A Randomized Clinical Trial. | Nolan, Brendan James ; Zwickl, Sav; Locke, Peter; Zajac, Jeffrey D ; Cheung, Ada S |
| 49 | 1-Sep-2023 | Obesity and 'functional hypogonadism' - mechanisms and management: Commentary on EJE-22-1110 "Leflutrozole in Male Obesity-Associated Hypogonadotropic Hypogonadism: Ph 2b Double-Blind RCT". | Inder, Warrick J; Grossmann, Mathis |
| 50 | Sep-2023 | Gastro Curbside Consults: Not just another 'bloody' case of right heart failure. | Ravindranayagam, Noel; Vaz, Karl; Gow, Paul J |
| 51 | Sep-2023 | New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: I. Role of GABA as a Modulator of Seizure Activity and Recently Approved Medications Acting on the GABA System. | Perucca, Emilio; Bialer, Meir; White, H Steve |
| 52 | Sep-2023 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid E ; Schneider, Amy L ; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette |
| 53 | Sep-2023 | New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development. | Perucca, Emilio; White, H Steve; Bialer, Meir |
| 54 | 25-Aug-2023 | Vulnerability to environmental and climatic health provocations among women and men hospitalised with chronic heart disease: Insights from the RESILIENCE TRIAL cohort. | Stewart, Simon; Patel, Sheila K ; Lancefield, Terase F; Sampaio Rodrigues, Thalys ; Doumtsis, Nicholas; Jess, Ashleigh; Vaughan-Fowler, Emily-Rose; Chan, Yih-Kai; Ramchand, Jay ; Yates, Paul A ; Kwong, Jason C ; McDonald, Christine F ; Burrell, Louise M |
| 55 | 24-Aug-2023 | ILAE Genetics Literacy Series: Progressive Myoclonus Epilepsies. | Cameron, Jillian M ; Ellis, Colin A; Berkovic, Samuel F |
| 56 | 8-Aug-2023 | Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene. | Ovchinnikov, D A; Jong, S; Cuddy, C; Scheffer, Ingrid E ; Maljevic, S; Petrou, S |
| 57 | Aug-2023 | Management of transgender patients in critical care. | Flower, Luke; Cheung, Ada S ; Connal, Stuart; Humphreys, Alice; Kamaruddin, Kamilla; Lennie, Yasmin; Edwardson, Stuart |
| 58 | Aug-2023 | Drug resistance in epilepsy. | Perucca, Emilio; Perucca, Piero ; White, H Steve; Wirrell, Elaine C |
| 59 | Aug-2023 | IRF2BPL: A new genotype for progressive myoclonus epilepsies. | Costa, Cinzia; Oliver, Karen L; Calvello, Carmen; Cameron, Jillian M ; Imperatore, Valentina; Tonelli, Laura; Colavito, Davide; Franceschetti, Silvana; Canafoglia, Laura; Berkovic, Samuel F ; Prontera, Paolo |
| 60 | Aug-2023 | The epidemiology of ketosis and low bicarbonate concentration in inpatients treated with sodium-glucose linked cotransporter inhibitors or dipeptidyl peptidase-4 inhibitors. | Huang, Warren ; Whitelaw, Jack; Kishore, Kartik ; Neto, Ary Serpa; Holmes, Natasha E ; Marhoon, Nada ; Bellomo, Rinaldo ; Ekinci, Elif I |
