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Lupski J.R.

245

Coauthors

Documentos

Volumen de publicaciones por año

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Año de publicación	Num. Publicaciones
2017	3
2018	2
2021	1

Publicaciones por áreas de conocimiento

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Área de conocimiento	Num. Publicaciones
Inmunología	6
Genética	4
Medicina interna	1
Medicamento	1

Publicaciones por áreas temáticas

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Área temática	Num. Publicaciones
Enfermedades	6
Anatomía humana, citología, histología	3
Fisiología y materias afines	2
Fisiología humana	1
Ginecología, obstetricia, pediatría, geriatría	1
Microorganismos, hongos y algas	1

Principales fuentes de datos

Origen	Num. Publicaciones
Scopus	6
Google Scholar	0
RRAAE	0

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Coautores destacados por número de publicaciones

Coautor	Num. Publicaciones
Chinn I.K.	5
Luis Alberto Pedroza	5
Jhangiani S.N.	4
Orange J.S.	4
Stray-Pedersen A.	3
Coban-Akdemir Z.H.	2
Aldave-Becerra J.C.	2
Forbes L.R.	2
Muzny D.M.	2
Mace E.M.	2

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Publicaciones del autor

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

Article

Abstract: Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual fun

Palabras claves:

Autores:

Andrea Molinari, Gajecka M., Gambin T., Jhangiani S.N., Karolak J.A., Lupski J.R., Pitarque J.A., Stankiewicz P.

Fuentes:

scopus

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

Article

Abstract: The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and cyt

Palabras claves:

AMPK inhibitor, Autoimmune Disease, gain-of-function mutation, inflammatory disease, Sting, STING inhibitor, type I interferonopathy, ULK1 phosphorylation

Autores:

Alejandra Mendoza, Barber G.N., Chinn I.K., Hong D.N., Konno H., Luis Alberto Pedroza, Lupski J.R., Orange J.S.

Fuentes:

scopus

First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis

Article

Abstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunod

Palabras claves:

CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencing

Autores:

Akdemir Z.C., Chinn I.K., Jhangiani S.N., Luis Alberto Pedroza, Lupski J.R., Muñoz G., Nina Guerrero, Orange J.S., Roque Macias, Stray-Pedersen A., Tafur C., Watkin L.B.

Fuentes:

scopus

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Article

Abstract: The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exi

Palabras claves:

Autores:

Abhyankar H.A., Al-Herz W., Aldave-Becerra J.C., Allen C.E., Bashir D.A., Cao T.N., Cecilia Poli M., Chamdin A., Chinn I.K., Coban-Akdemir Z.H., Diaz M.I., Eckstein O.S., Forbes L.R., Gibbs R.A., Goldberg B.R., Goldman J.R., Heslop H.E., Hong D.N., Jhangiani S.N., Krance R.A., Luis Alberto Pedroza, Lupski J.R., Mace E.M., Martinez C.A., McClain K.L., McGhee S.A., Muzny D.M., Nguyen T.C., Nicholas S.K., Orange J.S., Peckham-Gregory E.C., Stray-Pedersen A., Vogel T.P.

Fuentes:

scopus

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Article

Abstract: Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous di

Palabras claves:

copy number variants, Primary immunodeficiency disease, whole-exome sequencing

Autores:

Abbott J., Abhyankar H.A., Abrahamsen T.G., Aiuti A., Aldave-Becerra J.C., Allen C.E., Artac H., Atik M.M., Aukrust P., Bayer D.K., Bayram Y., Bechensteen A.G., Beck C.R., Belmont J.W., Bertuch A.A., Bezrodnik L., Boerwinkle E., Boone P.M., Burstedt M., Caldirola M.S., Caldwell J.W., Cancrini C., Canter D.L., Cao T.N., Chan A.Y., Chinen J., Chinn I.K., Coban-Akdemir Z.H., Davis C.M., Dybedal I., Ehlayel M.S., Eldomery M.K., Eng C.M., Erichsen H.C., Espinosa Rosales F.J., Fevang B., Flatø B., Forbes L.R., Franco J.L., Gambin T., Gedde-Dahl T., Gibbs R.A., Gu S., Hanson I.C., Heimdal K.R., Hjorth-Hansen H., Holmberg E., Hu J., Issekutz A.C., Issekutz T.B., Jhangiani S.N., Jolles S., Jørgensen S.F., Karaca E., Kulseth M.A., Lugo Reyes S.O., Luis Alberto Pedroza, Lupski J.R., Lyle R., Mace E.M., Muzny D.M., Nicholas S.K., Nina Denisse Guerrero-Cursaru, Nordøy I., Noroski L.M., Orange J.S., Osnes L.T.N., Poli C.M., Prescott T.E., Rider N.L., Rustad C.F., Rødningen O.K., Samarakoon P., Seeborg F.O., Shearer W.T., Sheng Y., Skogen V., Smith E.A., Sorte H.S., Stray-Pedersen A., Tjønnfjord G.E., Trujillo Vargas C.M., Vece T.J., Walkiewicz M., West C., Wiszniewski W., Wong L.J., Wright N., Yang Y., Yesil G., Yuan B., Zhang V.W., Øverland T.

Fuentes:

scopus