ArticleNeurology. Genetics2024
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In one paragraph
Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- New cases expand the genotype, phenotype and therapeutic landscape of H syndrome.British journal of haematology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Samantha A BanksFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0002-5856-1367
Jithma P AbeykoonFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0003-3939-6252
Karen RechFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0001-6770-2339
Pearse MorrisFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0002-9013-5624
Queenie K G TanFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0009-0001-3353-5015
Larissa N VeresFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Kimberly L SchoonoverFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0001-9084-9259
Allen J AksamitFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Gesina F KeatingFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0003-1118-3343
Narayan KissoonFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0002-6686-8537
Sindhuja Sominidi DamodaranFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0003-4019-4834
Hasina S MarediaFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Caroline J Davidge-PittsFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Jose C VillasboasFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Ronald GoFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0002-8284-3495
W Oliver TobinFrom the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.ORCID https://orcid.org/0000-0002-8141-2394
Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Pathogenic Methods: We describe a case of newly diagnosed Results: We present a 25-year-old man with recurrent dural based masses resulting in spinal cord and brain compression, hyperpigmented skin patches, proptosis, short stature, and elevated serum and spinal fluid inflammatory markers. Panel genetic testing revealed homozygous pathogenic variant c.1309G>A in the Discussion:
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