Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.

Autor: Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address: vandana.shashi@duke.edu., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC., Ganetzky R; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA., Kranz PG; Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, NC., Sondheimer N; Synlogic Therapeutics, Boston, MA., Markert ML; Department of Pediatrics, Duke University School of Medicine, Durham, NC; Department of Immunology, Duke University Medical Center, Durham, NC., Cope H; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC; Duke Precision Medicine Program, Department of Medicine, Division of General Internal Medicine, Duke University Medical Center, Durham, NC., Roehrs P; Pediatric Stem Cell Transplant and Cellular Therapy, Department of Pediatrics, University of Virginia, Charlottesville, VA., Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Muraresku C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Tyndall AV; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Esser MJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Woodward KE; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Ping-Yee Au B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Bernier FP; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Wright NAM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Benseler SM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Parsons SJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., El-Dairi M; Department of Ophthalmology, Duke University Medical Center, Durham, NC., Smith EC; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC., Valdez P; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Tennison M; Department of Neurology, University of North Carolina at Chapel Hill, NC., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: Micheil.innes@ahs.ca., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Sep; Vol. 25 (9), pp. 100897. Date of Electronic Publication: 2023 May 13.

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Inside Front Cover - Editorial Board Page.

Publikováno v: Advances in Water Resources. Dec2017, Vol. 110, pIFC-IFC. 1p.

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