Germline Mutations in

Apoptosis Regulatory Proteins / genetics Genetic Predisposition to Disease / genetics Germ-Line Mutation Humans Liver / metabolism Liver Diseases / genetics Transaminases / genetics Exome Sequencing

Journal

The New England journal of medicine

ISSN: 1533-4406

Titre abrégé: N Engl J Med

Pays: United States

ID NLM: 0255562

Informations de publication

Date de publication:
28 07 2022

Historique:

entrez: 8 8 2022

pubmed: 9 8 2022

medline: 11 8 2022

Statut: ppublish

Résumé

Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets. We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes. We conducted in vitro experiments to further characterize associations. The multistage analysis involved 542,904 persons with available data on liver aminotransferase levels, 24,944 patients with various types of liver disease, and 490,636 controls without liver disease. We found that rare coding variants in Rare germline mutations in

Sections du résumé

BACKGROUND

Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets.

METHODS

We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes. We conducted in vitro experiments to further characterize associations.

RESULTS

The multistage analysis involved 542,904 persons with available data on liver aminotransferase levels, 24,944 patients with various types of liver disease, and 490,636 controls without liver disease. We found that rare coding variants in

CONCLUSIONS

Rare germline mutations in

Identifiants

DOI: 10.1056/NEJMoa2117872 PMID: 35939579

pubmed: 35939579

doi: 10.1056/NEJMoa2117872

doi:

Substances chimiques

Apoptosis Regulatory Proteins 0

CIDEB protein, human 0

Transaminases EC 2.6.1.-

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

332-344

Subventions

Organisme : European Research Council

ID : ERC-ADG-2019-885003

Pays : International

Organisme : NIDDK NIH HHS

ID : K23 DK114561

Pays : United States

Commentaires et corrections

Type : CommentIn

Type : CommentIn

Informations de copyright

Copyright © 2022 Massachusetts Medical Society.

Auteurs

Niek Verweij (N)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Mary E Haas (ME)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

ORCID: 0000-0002-2816-9268

Jonas B Nielsen (JB)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Olukayode A Sosina (OA)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

ORCID: 0000-0003-2120-0338

Minhee Kim (M)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Parsa Akbari (P)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

ORCID: 0000-0001-9210-4760

Tanima De (T)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

George Hindy (G)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Jonas Bovijn (J)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Trikaldarshi Persaud (T)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Lawrence Miloscio (L)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Mary Germino (M)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Lampros Panagis (L)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Kyoko Watanabe (K)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Joelle Mbatchou (J)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Marcus Jones (M)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Michelle LeBlanc (M)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Suganthi Balasubramanian (S)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Craig Lammert (C)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Sofia Enhörning (S)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Olle Melander (O)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

David J Carey (DJ)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Christopher D Still (CD)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Tooraj Mirshahi (T)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

ORCID: 0000-0002-0754-3820

Daniel J Rader (DJ)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Prodromos Parasoglou (P)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Johnathon R Walls (JR)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

John D Overton (JD)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Jeffrey G Reid (JG)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Aris Economides (A)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Michael N Cantor (MN)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Brian Zambrowicz (B)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Andrew J Murphy (AJ)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Goncalo R Abecasis (GR)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Manuel A R Ferreira (MAR)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Eriks Smagris (E)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Viktoria Gusarova (V)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Mark Sleeman (M)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

George D Yancopoulos (GD)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Jonathan Marchini (J)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Hyun M Kang (HM)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Katia Karalis (K)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Alan R Shuldiner (AR)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Giusy Della Gatta (G)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Adam E Locke (AE)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Aris Baras (A)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

Luca A Lotta (LA)

From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital - both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) - both in Pennsylvania.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines régulatrices de l'apoptose › Germline Mutations in

questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Germline Mutations in

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Germline Mutations in

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Germline Mutations in

questionsmedicales.fr › Système digestif › Foie › Germline Mutations in

questionsmedicales.fr › Maladies de l'appareil digestif › Maladies du foie › Germline Mutations in

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Nitrogenous group transferases › Transaminases › Germline Mutations in

questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Germline Mutations in