Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study.

Autor: Gall BJ; Natera Inc., Austin, Texas, USA., Smart TB; Natera Inc., Austin, Texas, USA., Munch R; Natera Inc., Austin, Texas, USA., Kolluri S; Natera Inc., Austin, Texas, USA., Tadepally H; Natera Inc., Austin, Texas, USA., Lim KPH; Natera Inc., Austin, Texas, USA., Demko ZP; Natera Inc., Austin, Texas, USA., Benn P; Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, Connecticut, USA., Souter V; Natera Inc., Austin, Texas, USA., Sanapareddy N; Natera Inc., Austin, Texas, USA., Keen-Kim D; Natera Inc., Austin, Texas, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Dec; Vol. 10 (12), pp. e2085. Date of Electronic Publication: 2022 Nov 05.

CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH-associated neurodegeneration and mass lesions.

Autor: McClain KL; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Picarsic J; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Chakraborty R; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Zinn D; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Lin H; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Abhyankar H; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Scull B; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Shih A; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Lim KPH; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas., Eckstein O; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Lubega J; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Peters TL; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Department of Pathology, Baylor College of Medicine, Houston, Texas., Olea W; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Burke T; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Ahmed N; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Hicks MJ; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Department of Pathology, Baylor College of Medicine, Houston, Texas., Tran B; Department of Radiology, Baylor College of Medicine, Houston, Texas., Jones J; Department of Radiology, Baylor College of Medicine, Houston, Texas., Dauser R; Department of Neurosurgery, Baylor College of Medicine, Houston, Texas., Jeng M; Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California., Baiocchi R; Department of Internal Medicine, The Ohio State University, Columbus, Ohio., Schiff D; Department of Pediatrics, University of California-San Diego, La Jolla, California., Goldman S; Medical City Children's Hospital, Dallas Texas and Texas Oncology, Pennsylvania., Heym KM; Department of Pediatrics, Cook Children's Medical Center, Fort Worth, Texas., Wilson H; Department of Pathology, Texas Tech University Health Sciences Center El Paso, El Paso, Texas., Carcamo B; Department of Pediatrics, Texas Tech University Health Sciences Center El Paso, El Paso, Texas., Kumar A; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Rodriguez-Galindo C; St. Jude Children's Research Hospital, Memphis, Tennessee., Whipple NS; St. Jude Children's Research Hospital, Memphis, Tennessee., Campbell P; St. Jude Children's Research Hospital, Memphis, Tennessee., Murdoch G; Department of Pathology, Division of Neuropathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Kofler J; Department of Pathology, Division of Neuropathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Heales S; Chemical Pathology, Great Ormond Street Hospital for Children, London, UK., Malone M; Laboratory Medicine, Great Ormond Street Hospital for Children, London, UK., Woltjer R; Layton Aging and Alzheimer's Disease Center, Oregon Health and Science University, Portland, Oregon., Quinn JF; Layton Aging and Alzheimer's Disease Center, Oregon Health and Science University, Portland, Oregon., Orchard P; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital; Child Health, Neurology & Genetics, University of Arizona College of Medicine, Phoenix, Arizona., Jaffe R; Department of Pathology, Magee-Women's Hospital of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Manz MG; Division of Hematology, University of Zurich, University Hospital Zurich, Zurich, Switzerland., Lira SA; Immunology Institute, Icahn School of Medicine, New York, New York., Parsons DW; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Merad M; Department of Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine, New York, New York., Man TK; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Allen CE; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Publikováno v: Cancer [Cancer] 2018 Jun 15; Vol. 124 (12), pp. 2607-2620. Date of Electronic Publication: 2018 Apr 06.

RAF/MEK/extracellular signal-related kinase pathway suppresses dendritic cell migration and traps dendritic cells in Langerhans cell histiocytosis lesions.

Autor: Hogstad B; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Berres ML; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Internal Medicine III, University Hospital, RWTH Aachen, Aachen, Germany., Chakraborty R; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Tang J; Translational and Molecular Imaging Institute, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY., Bigenwald C; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Serasinghe M; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Lim KPH; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Lin H; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Man TK; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Remark R; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Baxter S; Translational and Molecular Imaging Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Kana V; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Jordan S; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Karoulia Z; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Kwan WH; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Leboeuf M; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Brandt E; Department of Internal Medicine III, University Hospital, RWTH Aachen, Aachen, Germany., Salmon H; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., McClain K; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Poulikakos P; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Chipuk J; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Mulder WJM; Translational and Molecular Imaging Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Allen CE; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX ceallen@txch.org.; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Merad M; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY miriam.merad@mssm.edu.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2018 Jan 02; Vol. 215 (1), pp. 319-336. Date of Electronic Publication: 2017 Dec 20.