logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
R

Richard Caswell

University of Exeter
H指数:37
被引数:5,210

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

KPTN相关疾病的临床谱系及小鼠模型中的神经发育发病机制

Annals of Neurology
IF7.7
2026-02-160
OAAI
Lettie E. Rawlins MBChB, PhD; Philip H. Iffland II PhD; John Page MS; Rebecca Z. Flessner MD; Soad M. Elziny PhD; Irina Sbornova BS; Janice K. Babus BA; Sophie R. Bruckmeier PhD; Ria Parikh BS; Merel Verhoeven BS; James Fasham MBChB, PhD; Joseph S. Leslie PhD; Richard Caswell PhD; Nishanka Ubeyratna MSc; Olivia Wenger MD; Ethan M. Scott MD; John Schreiber MD; Steffen Syrbe MD, PhD; Annick Klabunde-Cherwon MD; Martina Owens BSc Hons, MSc; Andrew H. Crosby PhD; Emma L. Baple MBBS, PhD; Peter B. Crino MD, PhD; the KPTN Consortium
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

人类遗传性PD-L1缺乏症在临床和免疫学上不如PD-1缺乏症严重

JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2024-04-181
PRE
Johnson, Matthew B.; Ogishi, Masato; Domingo-Vila, Clara; De Franco, Elisa; Wakeling, Matthew N.; Imane, Zineb; Resnick, Brittany; Williams, Evangelia; Galao, Rui Pedro; Caswell, Richard; Russ-Silsby, James; Seeleuthner, Yoann; Rinchai, Darawan; Fagniez, Iris; Benson, Basilin; Dufort, Matthew J.; Speake, Cate; Smithmyer, Megan E.; Hudson, Michelle; Dobbs, Rebecca; Quandt, Zoe; Hattersley, Andrew T.; Zhang, Peng; Boisson-Dupuis, Stephanie; Anderson, Mark S.; Casanova, Jean-Laurent; Tree, Timothy I.; Oram, Richard A.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

染色体20 p11.2缺失通过FOXA2或其调控元件的缺失导致先天性高胰岛素血症

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-04-113
OAAI
Laver, Thomas W.; Wakeling, Matthew N.; Caswell, Richard C.; Bunce, Benjamin; Yau, Daphne; Mannisto, Jonna M. E.; Houghton, Jayne A. L.; Hopkins, Jasmin J.; Weedon, Michael N.; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M.; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Saredo, Ana Tangari; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D. L.; Flanagan, Sarah E.
IMPG2-Related Maculopathy

IMPG2-Related黄斑病变

AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2024-02-013
PRE
Birtel, Johannes; Caswell, Richard; De Silva, Samantha R.; Herrmann, Philipp; Rehman, Salwah; Lotery, Andrew J.; Mahroo, Omar A.; Michaelides, Michel; Webster, Andrew R.; Maclaren, Robert E.; Issa, Peter Charbel
Primate-specific ZNF808 is essential for pancreatic development in humans
NATURE GENETICS
IF31.8
2023-11-166
OAAI
De Franco, Elisa; Owens, Nick D. L.; Montaser, Hossam; Wakeling, Matthew N.; Saarimaki-Vire, Jonna; Triantou, Athina; Ibrahim, Hazem; Balboa, Diego; Caswell, Richard C.; Jennings, Rachel E.; Kvist, Jouni A.; Johnson, Matthew B.; Muralidharan, Sachin; Ellard, Sian; Wright, Caroline F.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Hanley, Neil A.; Flanagan, Sarah E.; Otonkoski, Timo; Hattersley, Andrew T.; Imbeault, Michael; Laimon, Wafaa; Hassan, Samar S.; Abdullah, Mohamed A.; Fritzberg, Anders; Wakeling, Emma; Nathwani, Nisha; Elbarbary, Nancy; Osman, Amani; Alkandari, Hessa; alTararwa, Abeer; Habeb, Abdelhadi; Al-Agha, Abdulmoein Eid; Ahmad, Ihab Abdulhamed; Aldulaimi, Majida Noori Nasaif; Ustyol, Ala; Binomar, Hiba Mohammed Amin; Shagrani, Mohammad
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
PLOS GENETICS
IF3.7
2023-11-075
OAAI
Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition
BRAIN
IF11.7
2023-04-0319
OAAI
Martins Custodio, Helena; Clayton, Lisa M.; Bellampalli, Ravishankara; Pagni, Susanna; Silvennoinen, Katri; Caswell, Richard; Ambrose, John C.; Brunklaus, Andreas; Guerrini, Renzo; Koeleman, Bobby P. C.; Lemke, Johannes R.; Moler, Rikke S.; Scheffer, Ingrid E.; Weckhuysen, Sarah; Zara, Federico; Zuberi, Sameer; Kuchenbaecker, Karoline; Balestrini, Simona; Mills, James D.; Sisodiya, Sanjay M.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
HUMAN MOLECULAR GENETICS
IF3.2
2022-09-068
OAAI
Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
GENETICS IN MEDICINE
IF6.2
2021-05-0117
OAAI
Muir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-02-0137
OAAI
Gunning, Adam C.; Strucinska, Klaudia; Munoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L.; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H.; Grochowski, Christopher M.; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W. E.; Taylor, Robert W.; Misra, Vinod K.; Yoon, Wan Hee; Wright, Caroline F.; Lupski, James R.; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J.; Ellard, Sian

研究方向

暂未获取到该数据
S
Sian Ellard
H 指数:118论文数:918被引数:5.5万
A
Andrew T. Hattersley
H 指数:161论文数:1,313被引数:12.6万
S
Sarah E. Flanagan
H 指数:65论文数:436被引数:1.7万
H
Hana Lango Allen
H 指数:54论文数:112被引数:3.7万
E
Elisa De Franco
H 指数:34论文数:164被引数:5,121
M
Michael N. Weedon
H 指数:105论文数:497被引数:7.4万
M
Matthew B. Johnson
H 指数:30论文数:132被引数:2,805
M
Matthew N. Wakeling
H 指数:21论文数:85被引数:2,000
K
Karen Stals
H 指数:24论文数:77被引数:2,518
J
Jayne Houghton
H 指数:23论文数:101被引数:2,462