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S

Sophie Hambleton

newcastle university translational and clinical research institute
H指数:62
被引数:1.5万

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工作经历

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荣誉奖项

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Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney

EXOSC3基因的双等位基因致病性变异介导肾脏血栓性微血管病

Kidney International
IF12.6
2026-07-220
OAAI
Patrick R. Walsh; Uttiya Basu; Tahsin Stefan Barakat; Bodo B. Beck; Enrico Bertini; Vicky Brocklebank; Nuno Corderio; Jasmina Ćomić; Nora Abazi-Emini; Joel Fluss; Annette George; Marcus Bulow; Beth Gibson; Sophie Hambleton; Julia Hoefele; David Hunt; Ivan Ivanov; Sally Johnson; Urania Kotzaeridou; Jana Laštůvková
Treosulfan–fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study

托莫斯福兰–氟达拉滨预处理在重症联合免疫缺陷婴儿中的应用：英国儿科托莫斯福兰研究的扩展研究

British Journal of Haematology
IF3.8
2026-04-100
OAAI
Su Han Lum; Sinéad Greener; Irum Latif Memon; Persis Amrolia; Zohreh Nademi; Robert Chiesa; Juliana Silva; Helen Young; Stephen Owens; Eleri Williams; Khuen Foong Ng; Terry Flood; Andrew R Gennery; Sophie Hambleton; Kanchan Rao; Mary Slatter
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

mTOR通路疾病：从实验室到临床的挑战与机遇及mTOR节点

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-05-270
OA
Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Duehring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M.
Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency

造血干细胞移植治疗5例常染色体隐性RIPK1-Deficiency的疗效分析

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2025-01-060
OAAI
Walsh, Rebecca B.; Mcnaughton, Peter; Nademi, Zohreh; Laberko, Alexandra; Balashov, Dmitry; Al-Mousa, Hamoud; Arkwright, Peter D.; Wynn, Robert F.; Flood, Terry; Williams, Eleri; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Slatter, Mary; Gennery, Andrew R.; Lum, Su Han; Owens, Stephen
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells

原发性免疫缺陷揭示了产生和维持人类CD4+ IL-9表达细胞的分子需求

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2024-11-010
PRE
Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abraham, Roshini S.; Seppanen, Mikko R. J.; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Tangye, Stuart G.; Ma, Cindy S.
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
SCIENCE IMMUNOLOGY
IF16.3
2024-05-240
OA
Chen, Rui; Lukianova, Elena; van der Loeff, Ina Schim; Spegarova, Jarmila Stremenova; Willet, Joseph D. P.; James, Kieran D.; Ryder, Edward J.; Griffin, Helen; Ijspeert, Hanna; Gajbhiye, Akshada; Lamoliatte, Frederic; Marin-Rubio, Jose L.; Woodbine, Lisa; Lemos, Henrique; Swan, David J.; Pintar, Valeria; Sayes, Kamal; Ruiz-Morales, Elias R.; Eastham, Simon; Dixon, David; Prete, Martin; Prigmore, Elena; Jeggo, Penny; Boyes, Joan; Mellor, Andrew; Huang, Lei; van der Burg, Mirjam; Engelhardt, Karin R.; Stray-Pedersen, Asbjorg; Erichsen, Hans Christian; Gennery, Andrew R.; Trost, Matthias; Adams, David J.; Anderson, Graham; Lorenc, Anna; Trynka, Gosia; Hambleton, Sophie
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-019
OAAI
van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; van der Loeff, Ina Schim; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H. M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S. V.; Hoischen, Alexander
Alemtuzumab, Dual Graft-versus-Host Disease Prophylaxis, and Lower CD3+ T Cell Doses Equalize Rates of Acute and Chronic Graft-versus-Host Disease in Pediatric Patients Receiving Allogeneic Hematopoietic Stem Cell Transplantation with Matched Unrelated Donor Peripheral Blood Stem Cells or Bone Marrow Grafts
TRANSPLANTATION AND CELLULAR THERAPY
IF4.4
2024-03-010
OAAI
Lum, Su Han; James, Beki; Ottaviano, Giorgio; Ewins, Anna-Maria; Patrick, Katharine; Ali, Salah; Carpenter, Ben; Silva, Juliana; Tewari, Sanjay; Furness, Caroline; Thomas, Arun; Shenton, Geoff; Bonney, Denise; Moppett, John; Hambleton, Sophie; Gennery, Andrew R.; Amrolia, Persis; Gibson, Brenda; Hough, Rachael; Rao, Kanchan; Slatter, Mary; Wynn, Robert
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
LANCET HAEMATOLOGY
IF17.7
2024-02-014
PRE
Haegele, Pauline; Staus, Paulina; Scheible, Raphael; Uhlmann, Annette; Heeg, Maximilian; Klemann, Christian; Maccari, Maria Elena; Ritterbusch, Henrike; Armstrong, Martin; Cutcutache, Ioana; Elliott, Katherine S.; von Bernuth, Horst; Leahy, Timothy Ronan; Leyh, Joerg; Holzinger, Dirk; Lehmberg, Kai; Svec, Peter; Masjosthusmann, Katja; Hambleton, Sophie; Jakob, Marcus; Sparber-Sauer, Monika; Kager, Leo; Puzik, Alexander; Wolkewitz, Martin; Lorenz, Myriam Ricarda; Schwarz, Klaus; Speckmann, Carsten; Rensing-Ehl, Anne; Ehl, Stephan
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-08-109
OA
Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C.; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I.; Heredia, Raul Jimenez; Harms, Frederike L.; Alavi, Samin; Alsina, Laia; Moreno, Paula Sanchez; Polo, Rainiero Avila; Cabrera-Perez, Rocio; Bal, Sevgi Kostel; Pfajfer, Laurene; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Conde, Cecilia Dominguez; Platzer, Rene; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han G.; Nooitgedagt-Frons, Judith E.; Iglesias, Estibaliz; Deya-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Joerg; Bock, Christoph; Huppa, Johannes B.; Pickl, Winfried F.; Distel, Martin; Yoder, Jeffrey A.; Traver, David; Engelhardt, Karin R.; Linden, Tobias; Kager, Leo; Hannich, J. Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin; Chavoshzadeh, Zahra; van Buul, Jaap D.; Anton, Jordi; Calzada-Hernandez, Joan; Neth, Olaf; Viaud, Julien; Nishikimi, Akihiko; Dupre, Loic; Boztug, Kaan
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-08-0119
OAAI
Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

单基因早发性淋巴细胞增殖和自身免疫: STAT3功能获得综合征的自然史

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2023-04-0159
OAAI
Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G. J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernandez, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Benedicte; Hadjadj, Jerome; Hambleton, Sophie; Leahy, Timothy Ronan; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M.; Sharapova, Svetlana O.; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S.; Flanagan, Sarah E.; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E.; Allenspach, Eric; Romberg, Nei; Deane, Sean G.; Prince, Benjamin T.; Rose, Melissa J.; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Vilela, Maria Marluce Dos Santos; O'Sullivan, Michael; Schmid, Jana Pachlopnik; Pruhova, Stepanka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Saf; Bartnikas, Lisa M.; Berger, Amy Chang; Briggs, Tracy A.; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C.; Desai, Mukesh M.; Fischer, Ute; Fulcher, David A.; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R.; Marques, Jose Goncalo; Gottrand, Frederic; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hamalainen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M.; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L.; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G.; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C.; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saul Oswaldo; Russell, Mark A.; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppanen, Mikko R. J.; Torgerson, Troy R.; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G.; Cooper, Megan A.; Milner, Joshua D.; Satter, Lisa R. Forbes
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition
LANCET GASTROENTEROLOGY & HEPATOLOGY
IF38.6
2023-03-0123
PRE
Kammermeier, Jochen; Lamb, Christopher A.; Jones, Kelsey D. J.; Anderson, Carl A.; Baple, Emma L.; Bolton, Chrissy; Braggins, Helen; Coulter, Tanya, I; Gilmour, Kimberly C.; Gregory, Vicki; Hambleton, Sophie; Hartley, David; Hawthorne, A. Barney; Hearn, Sarah; Laurence, Arian; Parkes, Miles; Russell, Richard K.; Speight, R. Alexander; Travis, Simon; Wilson, David C.; Uhlig, Holm H.

研究方向

暂未获取到该数据
A
Andrew J. Cant
H 指数:62论文数:280被引数:1.5万
A
Andrew R. Gennery
H 指数:88论文数:629被引数:2.7万
M
Mario Abinun
H 指数:60论文数:234被引数:1.5万
M
Mary Slatter
H 指数:57论文数:316被引数:1.0万
K
Karin R. Engelhardt
H 指数:28论文数:70被引数:4,601
Z
Zohreh Nademi
H 指数:25论文数:86被引数:2,390
P
Peter D. Arkwright
H 指数:77论文数:302被引数:1.7万
C
C.J. Duncan
H 指数:65论文数:449被引数:2.8万
F
Florian Gothe
H 指数:21论文数:47被引数:2,169
H
Helen Griffin
H 指数:43论文数:113被引数:5,146