ArticleNeurology. Genetics2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.American journal of human genetics · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.medRxiv : the preprint server for health sciences · 2025Article
- The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.Genome research · 2025Review
- Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.Nature genetics · 2025Article
- RNA Sequencing in Disease Diagnosis.Annual review of genomics and human genetics · 2024Review
Corrections and comments
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Authors and funding
36 authors.
Andrew B StergachisFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-1299-3674
Elizabeth E BlueFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-0633-0305
Madelyn A GillentineFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Lee-Kai WangFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-7108-2897
Ulrike SchwarzeFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Adriana Sedeño CortésFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0001-7959-8970
Jane RanchalisFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Aimee AllworthFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Austin E BlandFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Sirisak ChanprasertFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Jingheng ChenFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Daniel DohertyFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Andrew B FoltaFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Ian GlassFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Martha Horike-PyneFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Alden Y HuangFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Alyna T KhanFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Kathleen A LeppigFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Danny E MillerFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0001-6096-8601
Ghayda MirzaaFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Azma ParhinFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Wendy H RaskindFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Elisabeth A RosenthalFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Sam SheppeardFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Samuel StrohbehnFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0009-0002-5627-0774
Virginia P SybertFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Thao T TranFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Mark H WenerFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-8304-6957
for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),
Peter H H ByersFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Stanley F NelsonFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Michael J BamshadFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-9647-0861
Katrina M DippleFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Gail P JarvikFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.ORCID https://orcid.org/0000-0002-6710-8708
Suzanne HoppinsFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Fuki M HisamaFrom the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), University of Washington; Group Health Cooperative (K.A.L.), Kaiser Permanente Washington; Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research; and Department of Biochemistry (S.H.), University of Washington School of Medicine, Seattle, WA.
Funding
Determining the mechanism of mitochondrial outer membrane fusionR01GM118509 · NIGMS · UNIVERSITY OF WASHINGTON · PI HOPPINS, SUZANNE C · 2017 to 2025
$3.3MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01NS134355 · NINDS · UNIVERSITY OF WASHINGTON · PI ELIZABETH ELOYCE BLUE, Katrina M Dipple · 2023 to 2026
$3.0MUCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936kNIGMS NIH HHS R01 GM118509NINDS NIH HHS U01 NS134355NINDS NIH HHS U01 NS134356
Abstract
Objectives: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. Methods: We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. Results: We identified an intronic homozygous Discussion: This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.
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