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

'Amazing and Daunting': Providers' Perspectives on the Implementation of Neurofeedback

“既令人惊叹又令人畏惧”:服务提供者对神经反馈实施的看法

Norris, Whitney K; Allison, M Kathryn; Shaw-Smith, Ellen; Pro, George; Curran, Geoffrey; Rojo, Martha

Setting Factors Associated With Licensed Psychotherapists' Interest in the Implementation of Electroencephalogram Neurofeedback Into Practice

影响持证心理治疗师对将脑电图神经反馈应用于实践的兴趣的背景因素

Norris, Whitney K; Pro, George; Shaw-Smith, Ellen; Curran, Geoffrey M; Rojo, Martha

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

Alistair T Pagnamenta ,Jing Yu ,Susan Walker ,Alexandra J Noble ,Jenny Lord ,Prasun Dutta ,Mona Hashim ,Carme Camps ,Hannah Green ,Smrithi Devaiah ,Lina Nashef ,Jason Parr ,Carl Fratter ,Rana Ibnouf Hussein ,Sarah J Lindsay ,Fiona Lalloo ,Benito Banos-Pinero ,David Evans ,Lucy Mallin ,Adrian Waite ,Julie Evans ,Andrew Newman ,Zoe Allen ,Cristina Perez-Becerril ,Gavin Ryan ,Rachel Hart ,John Taylor ,Tina Bedenham ,Emma Clement ,Ed Blair ,Eleanor Hay ,Francesca Forzano ,Jenny Higgs ,Natalie Canham ,Anirban Majumdar ,Meriel McEntagart ,Nayana Lahiri ,Helen Stewart ,Sarah Smithson ,Eduardo Calpena ,Adam Jackson ,Siddharth Banka ,Hannah Titheradge ,Ruth McGowan ,Julia Rankin ,Charles Shaw-Smith ,D Gareth Evans ,George J Burghel ,Miriam J Smith ,Emily Anderson ,Rajesh Madhu ,Helen Firth ,Sian Ellard ,Paul Brennan ,Claire Anderson ,Doug Taupin ,Mark T Rogers ,Jackie A Cook ,Miranda Durkie ,James E East ,Darren Fowler ,Louise Wilson ,Rebecca Igbokwe ,Alice Gardham ,Ian Tomlinson ,Diana Baralle ,Holm H Uhlig ,Jenny C Taylor

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

常见的PKD1 p.(Ile3167Phe)变异体为低活性变异,与极早发病的双等位基因多囊肾病相关。

Durkie, Miranda; Watson, Christopher M; Winship, Peter; Hogg, Anne-Cecile; Nyanhete, Rodney; Cooley, Sharon; Valluru, Manoj K; Shaw-Smith, Charles; Bingham, Coralie; Gilchrist, Mark; Kenny, Janna; Consortium, Genomics England Research; Ong, Albert C M

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

HDAC4 中保守的 14-3-3 结合位点的错义突变会导致一种新的智力障碍综合征。

Wakeling, Emma; McEntagart, Meriel; Bruccoleri, Michael; Shaw-Smith, Charles; Stals, Karen L; Wakeling, Matthew; Barnicoat, Angela; Beesley, Clare; Hanson-Kahn, Andrea K; Kukolich, Mary; Stevenson, David A; Campeau, Philippe M; Ellard, Sian; Elsea, Sarah H; Yang, Xiang-Jiao; Caswell, Richard C

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

一项针对由 REN 基因突变引起的常染色体显性遗传性肾小管间质性肾病的国际队列研究,发现了不同的临床亚型。

Živná, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyleťal, Petr; Barešová, Veronika; Hodaňová, Kateřina; Sovová, Jana; Hartmannová, Hana; Votruba, Miroslav; Trešlová, Helena; Jedličková, Ivana; Sikora, Jakub; Hůlková, Helena; Robins, Victoria; Hnízda, Aleš; Živný, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B; Wenzel, Andrea; Tory, Kálmán; Häeffner, Karsten; Wolf, Matthias T F; Bleyer, Michael E; Sayer, John A; Ong, Albert C M; Balogh, Lídia; Jakubowska, Anna; Łaszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

马歇尔-史密斯综合征和马兰综合征的发育、行为和感觉处理:两种相关综合征的表型比较

Mulder, P A; van Balkom, I D C; Landlust, A M; Priolo, M; Menke, L A; Acero, I H; Alkuraya, F S; Arias, P; Bernardini, L; Bijlsma, E K; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, N H; Fahrner, J A; Foster, A; González, N G; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Kooblall, K; Lapunzina, P; Liebelt, J; Lynch, S A; Maas, S M; Mammì, C; Mathijssen, I B; McKee, S; Mirzaa, G M; Montgomery, T; Neubauer, D; Neumann, T E; Pintomalli, L; Pisanti, M A; Plomp, A S; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Schanze, D; Segovia, M; Shaw-Smith, C; Smithson, S; Suri, M; Tatton-Brown, K; Tenorio, J; Thakker, R V; Valdez, R M; Van Haeringen, A; Van Hagen, J M; Zenker, M; Zollino, M; Dunn, W W; Piening, S; Hennekam, R C

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

GPC4基因的致病变异会导致凯珀特综合征

Amor David J, Stephenson Sarah E M, Mustapha Mirna, Mensah Martin A, Ockeloen Charlotte W, Lee Wei Shern, Tankard Rick M, Phelan Dean G, Shinawi Marwan, de Brouwer Arjan P M, Pfundt Rolph, Dowling Cari, Toler Tomi L, Sutton V Reid, Agolini Emanuele, Rinelli Martina, Capolino Rossella, Martinelli Diego, Zampino Giuseppe, Dumić Miroslav, Reardon William, Shaw-Smith Charles, Leventer Richard J, Delatycki Martin B, Kleefstra Tjitske, Mundlos Stefan, Mortier Geert, Bahlo Melanie, Allen Nicola J, Lockhart Paul J