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A

Asbjørg Stray-Pedersen

Oslo University Hospital
H指数:44
被引数:8,436

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The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency — a Comparative Analysis

c.64 + 2 T > A始祖变异敲响警钟：14例患者的报告扩展了遗传性ARPC1B缺乏症的表型景观——一项比较分析

Clinical Reviews in Allergy & Immunology
IF11.3
2025-07-160
PRE
Dharmagat Bhattarai; Aaqib Zaffar Banday; Pratap Kumar Patra; Ramji Baral; Chakshu Chaudhry; Katta M. Girisha; Jolan E. Walter; Ganga Narasimhan; Bénédicte Neven; Asbjørg Stray-Pedersen; Kathleen E. Sullivan
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia

二磷酸地塞米松自体红细胞包封物在共济失调毛细血管扩张症儿科患者中的长期安全性

FRONTIERS IN NEUROLOGY
IF2.8
2025-01-230
OA
Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M.; Pietrucha, Barbara; Stray-Pedersen, Asbjorg; Perlman, Susan L.; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M.; Whitehouse, William P.
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms

如何管理种系DDX41变异患者: 来自骨髓肿瘤种系易感性北欧工作组的建议

HEMASPHERE
IF14.6
2024-08-130
OAAI
Baliakas, Panagiotis; Tesi, Bianca; Cammenga, Jorg; Stray-Pedersen, Asbjorg; Jahnukainen, Kirsi; Andersen, Mette Klarskov; Agerstam, Helena; Creignou, Maria; Dybedal, Ingunn; Raaschou-Jensen, Klas; Gronbaek, Kirsten; Kilpivaara, Outi; Lindberg, Eva Hellstrom; Wartiovaara-Kautto, Ulla
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
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2022-02-010
OAAI
Forbes, Lisa R.; Eckstein, Olive S.; Gulati, Nitya; Peckham-Gregory, Erin C.; Ozuah, Nmazuo W.; Lubega, Joseph; El-Mallawany, Nader K.; Agrusa, Jennifer E.; Poli, M. Cecilia; Vogel, Tiphanie P.; Chaimowitz, Natalia S.; Rider, Nicholas L.; Mace, Emily M.; Orange, Jordan S.; Caldwell, Jason W.; Aldave-Becerra, Juan C.; Jolles, Stephen; Saettini, Francesco; Chong, Hey J.; Stray-Pedersen, Asbjorg; Heslop, Helen E.; Kamdar, Kala Y.; Rouce, R. Helen; Muzny, Donna M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Coban-Akdemir, Zeynep H.; Lupski, James R.; McClain, Kenneth L.; Allen, Carl E.; Chinn, Ivan K.
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT

挪威GATA2缺陷症的全国性研究——多数患者已接受异基因造血干细胞移植

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2021-12-1012
OAAI
Jorgensen, Silje F.; Buechner, Jochen; Myhre, Anders E.; Galteland, Eivind; Spetalen, Signe; Kulseth, Mari Ann; Sorte, Hanne S.; Holla, Oystein L.; Lundman, Emma; Alme, Charlotte; Heier, Ingvild; Flaegstad, Trond; Floisand, Yngvar; Benneche, Andreas; Fevang, Borre; Aukrust, Pal; Stray-Pedersen, Asbjorg; Gedde-Dahl, Tobias; Nordoy, Ingvild
Human NK cell deficiency as a result of biallelic mutations in MCM10
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2020-08-3146
OA
Mace, Emily M.; Paust, Silke; Conte, Matilde I.; Baxley, Ryan M.; Schmit, Megan M.; Patil, Sagar L.; Guilz, Nicole C.; Mukherjee, Malini; Pezzi, Ashley E.; Chmielowiec, Jolanta; Tatineni, Swetha; Chinn, Ivan K.; Akdemir, Zeynep Coban; Jhangiani, Shalini N.; Muzny, Donna M.; Stray-Pedersen, Asbjorg; Bradley, Rachel E.; Moody, Mo; Connor, Philip P.; Heaps, Adrian G.; Steward, Colin; Banerjee, Pinaki P.; Gibbs, Richard A.; Borowiak, Malgorzata; Lupski, James R.; Jolles, Stephen; Bielinsky, Anja K.; Orange, Jordan S.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
FRONTIERS IN IMMUNOLOGY
IF5.9
2020-07-0945
OAAI
Strand, Janne; Gul, Kiran Aftab; Erichsen, Hans Christian; Lundman, Emma; Berge, Mona C.; Tromborg, Anette K.; Sorgjerd, Linda K.; Ytre-Arne, Mari; Hogner, Silje; Halsne, Ruth; Gaup, Hege Junita; Osnes, Liv T.; Kro, Grete A. B.; Sorte, Hanne S.; Morkrid, Lars; Rowe, Alexander D.; Tangeraas, Trine; Jorgensen, Jens, V; Alme, Charlotte; Bjorndalen, Trude E. H.; Ronnestad, Arild E.; Lang, Astri M.; Rootwelt, Terje; Buechner, Jochen; Overland, Torstein; Abrahamsen, Tore G.; Pettersen, Rolf D.; Stray-Pedersen, Asbjorg
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2020-06-2734
OAAI
Tangeraas, Trine; Saeves, Ingjerd; Klingenberg, Claus; Jorgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnporunn; Hansen, Eirik Vangsoy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T.; Sagredo, Carlos; Olsen, Oyvind E.; Berge, Mona C.; Tromborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sorgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Lovoll, Siv M.; Klovstad Olavsen, Mette R.; Navarrete, Dionne; Gaup, Hege J.; Lilje, Rina; Zetterstrom, Rolf H.; Stray-Pedersen, Asbjorg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D.; Pettersen, Rolf D.
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2020-06-0219
OA
Kuhny, Marcel; Forbes, Lisa R.; Cakan, Elif; Vega-Loza, Andrea; Kostiuk, Valentyna; Dinesh, Ravi K.; Glauzy, Salome; Stray-Pedersen, Asbjorg; Pezzi, Ashley E.; Hanson, I. Celine; Vargas-Hernandez, Alexander; Xu, Mina LuQuing; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Chinn, Ivan K.; Schatz, David G.; Orange, Jordan S.; Meffre, Eric
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
HEMASPHERE
IF14.6
2019-12-0162
OAAI
Baliakas, Panagiotis; Tesi, Bianca; Wartiovaara-Kautto, Ulla; Stray-Pedersen, Asbjorg; Friis, Lone Smidstrup; Dybedal, Ingunn; Hovland, Randi; Jahnukainen, Kirsi; Raaschou-Jensen, Klas; Ljungman, Per; Rustad, Cecilie F.; Lautrup, Charlotte K.; Kilpivaara, Outi; Kittang, Astrid Olsnes; Gronbaek, Kirsten; Cammenga, Jorg; Hellstrom-Lindberg, Eva; Andersen, Mette K.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2019-10-10142
OAAI
Lam, Michael T.; Coppola, Simona; Krumbach, Oliver H. F.; Prencipe, Giusi; Insalaco, Antonella; Cifaldi, Cristina; Brigida, Immacolata; Zara, Erika; Scala, Serena; Di Cesare, Silvia; Martinelli, Simone; Di Rocco, Martina; Pascarella, Antonia; Niceta, Marcello; Pantaleoni, Francesca; Ciolfi, Andrea; Netter, Petra; Carisey, Alexandre F.; Diehl, Michael; Akbarzadeh, Mohammad; Conti, Francesca; Merli, Pietro; Pastore, Anna; Mortera, Stefano Levi; Camerini, Serena; Farina, Luciapia; Buchholzer, Marcel; Pannone, Luca; Cao, Tram N.; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Basso-Ricci, Luca; Chiriaco, Maria; Dvorsky, Radovan; Putignani, Lorenza; Carsetti, Rita; Janning, Petra; Stray-Pedersen, Asbjorg; Erichsen, Hans Christian; Horne, AnnaCarin; Bryceson, Yenan T.; Torralba-Raga, Lamberto; Ramme, Kim; Rosti, Vittorio; Bracaglia, Claudia; Messia, Virginia; Palma, Paolo; Finocchi, Andrea; Locatelli, Franco; Chinn, Ivan K.; Lupski, James R.; Mace, Emily M.; Cancrini, Caterina; Aiuti, Alessandro; Ahmadian, Mohammad R.; Orange, Jordan S.; De Benedetti, Fabrizio; Tartaglia, Marco

研究方向

暂未获取到该数据
J
James R. Lupski
H 指数:144论文数:1,090被引数:8.7万
J
Jordan S. Orange
H 指数:106论文数:882被引数:4.3万
S
Shalini N. Jhangiani
H 指数:73论文数:261被引数:2.3万
Z
Zeynep Coban‐Akdemir
H 指数:52论文数:190被引数:7,270
D
Donna M. Muzny
H 指数:63论文数:201被引数:2.0万
R
Richard A. Gibbs
H 指数:190论文数:1,341被引数:28.1万
H
Hanne Sørmo Sorte
H 指数:16论文数:49被引数:1,957
I
Iván K. Chinn
H 指数:39论文数:169被引数:5,827
E
Emily M. Mace
H 指数:52论文数:234被引数:9,251
L
Lisa R. Forbes
H 指数:37论文数:187被引数:6,367