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A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Ochoa, S; Hsu, AP; Oler, AJ; Kumar, D; Chauss, D; van Hamburg, JP; van Laar, GG; Oikonomou, V; Ganesan, S; Ferre, EMN; Schmitt, MM; Dimaggio, T; Barber, P; Constantine, GM; Rosen, LB; Auwaerter, PG; Gandhi, B; Miller, JL; Eisenberg, R; Rubinstein, A; Schussler, E; Balliu, E; Shashi, V; Neth, O; Olbrich, P; Le, KM; Mamia, N; Laakso, S; Nevalainen, PI; Groenholm, J; Seppaenen, MRJ; Boon, L; Uzel, G; Franco, LM; Heller, T; Winer, KK; Ghosh, R; Seifert, BA; Walkiewicz, M; Notarangelo, LD; Zhou, Q; Askentijevich, I; Gahl, W; Dalgard, CL; Perera, L; Afzali, B; Tas, SW; Holland, SM; Lionakis, MS 

Tipo: Artículo
Año de Publicación: 2024
Volumen: 16
Número: 765
Número de artículo: eadk0845
Fuente Nº Citas Fecha Actualización
scopus113-11-2024
wos030-10-2024
Dimensions
PlumX
Altmetric

Año: 2023

Journal Impact Factor (JIF): 15.80

CategoríaEdiciónPosiciónCuartilTercilDecil
CELL BIOLOGYSCIE11/205Q1T1D1
MEDICINE, RESEARCH & EXPERIMENTALSCIE2/189Q1T1D1

Año: 2023

Journal Citation Indicator (JCI): 3,500

CategoríaPosiciónCuartilTercilDecilPercentil
CELL BIOLOGY9/205Q1T1D195,85
MEDICINE, RESEARCH & EXPERIMENTAL3/189Q1T1D198,68

Año:

2023

CiteScore:

26,700

CategoríaPosiciónCuartilTercilDecil
Medicine (all)11/636Q1T1D1

SJR año:

2023

Factor de Impacto:

6,510

CategoríaPosiciónCuartilTercilDecil
Medicine (miscellaneous)21/2494Q1T1D1
No existen datos para la revista de esta publicación.
Agencia Código de Proyecto
Academy of Finland-
Director of Intramural Research through the Clinical Center Genomics Opportunity-
Emil Aaltonen Foundation-
Finnish Medical Foundation-
HUS Helsinki University Hospital-
NHGRI (National Institutes of Health)-
NIAID (National Institutes of Health)-
NIAMS (National Institutes of Health)-
NICHD (National Institutes of Health)-
NIDDK (National Institutes of Health)-
NIEHS (National Institutes of Health)-
NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH DirectorU01HG007672
Sigrid Juselius Foundation-
Stiftelsen Frimurare Barnhuset in Stockholm-
Nota: los datos sobre financiación provienen de la WOS
# Autor Afiliación
1Ochoa, SNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
2Hsu, APNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
3Oler, AJNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
4Kumar, DNIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (USA)
5Chauss, DNIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (USA)
6van Hamburg, JPUniversity of Amsterdam (Netherlands)
7van Laar, GGUniversity of Amsterdam (Netherlands)
8Oikonomou, VNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
9Ganesan, SNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
10Ferre, EMNNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
11Schmitt, MMNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
12Dimaggio, TNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
13Barber, PNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
14Constantine, GMNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
15Rosen, LBNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
16Auwaerter, PGJohns Hopkins University (USA)
17Gandhi, BGeorgetown University (USA)
18Miller, JLFeinberg School of Medicine (USA)
19Eisenberg, RAlbert Einstein College of Medicine (USA)
20Rubinstein, AAlbert Einstein College of Medicine (USA)
21Schussler, EWeill Cornell Medicine (USA)
22Balliu, ELakeland Reg Hlth Grasslands Campus (USA)
23Shashi, VDuke University (USA)
24Neth, OCSIC-JA-USE - Instituto de Biomedicina de Sevilla (IBIS) (Spain)
25Olbrich, PUniversidad de Sevilla; CSIC-JA-USE - Instituto de Biomedicina de Sevilla (IBIS) (Spain)
26Le, KMUniversity of Helsinki; Helsinki University Central Hospital (Finland)
27Mamia, NHelsinki University Central Hospital (Finland)
28Laakso, SUniversity of Helsinki; Helsinki University Central Hospital; Folkhalsan Research Center (Finland)
29Nevalainen, PIJJP Biol (Poland)
30Groenholm, JUniversity of Helsinki; Helsinki University Central Hospital (Finland)
31Seppaenen, MRJUniversity of Helsinki; Helsinki University Central Hospital; European Reference Network Rare Immunodeficiency A (Netherlands)
32Boon, LJJP Biol (Poland)
33Uzel, GNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
34Franco, LMNIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) (USA)
35Heller, TNIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (USA)
36Winer, KKNIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) (USA)
37Ghosh, RNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
38Seifert, BANIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
39Walkiewicz, MNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
40Notarangelo, LDNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
41Zhou, QNIH National Human Genome Research Institute (NHGRI) (USA)
42Askentijevich, INIH National Human Genome Research Institute (NHGRI) (USA)
43Gahl, WNIH National Human Genome Research Institute (NHGRI) (USA)
44Dalgard, CLUniformed Services University of the Health Sciences - USA (USA)
45Perera, LNIH National Institute of Environmental Health Sciences (NIEHS) (USA)
46Afzali, BNIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (USA)
47Tas, SWUniversity of Amsterdam (Netherlands)
48Holland, SMNIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)
49Lionakis, MS NIH National Institute of Allergy & Infectious Diseases (NIAID) (USA)