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Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?"

Autor: Alexander AL; Brown University Warren Alpert Medical School, Providence, Rhode Island, USA., Lim SY; Rhode Island Hospital, Providence, Rhode Island, USA., Massingham LJ; Rhode Island Hospital, Providence, Rhode Island, USA., Phillips O; Rhode Island Hospital, Providence, Rhode Island, USA., Chambers MK; Rhode Island Hospital, Providence, Rhode Island, USA., Donahue JE; Rhode Island Hospital, Providence, Rhode Island, USA.

Publikováno v: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2023 Dec 22; Vol. 83 (1), pp. 67-68.

Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes.

Autor: Montcrieff C; Hemostasis and Thrombosis Center, Rhode Island Hospital, Providence, Rhode Island, USA., Ferreira KA; Division of Flow Cytometry, Rhide Ilsand Hospital, Providence, Rhode Island, USA.; Alpert Medical School of Brown University, Providence, Rhode Island, USA., Cheves TA; Division of Coagulation and Transfusion Medicine, Rhode Island Hospital, Providence, Rhode Island, USA., Massingham LJ; Alpert Medical School of Brown University, Providence, Rhode Island, USA.; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island, USA., Sweeney JD; Alpert Medical School of Brown University, Providence, Rhode Island, USA.; Division of Coagulation and Transfusion Medicine, Rhode Island Hospital, Providence, Rhode Island, USA.

Publikováno v: Transfusion [Transfusion] 2023 May; Vol. 63 (5), pp. 1092-1099. Date of Electronic Publication: 2023 Mar 20.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Autor: McKnight D; Invitae, San Francisco, California., Morales A; Invitae, San Francisco, California., Hatchell KE; Invitae, San Francisco, California., Bristow SL; Invitae, San Francisco, California., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah., Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Berg AT; Department of Neurology, Northwestern University-Feinberg School of Medicine, Chicago, Illinois.; COMBINEDBrain, Brentwood, Tennessee., Borlot F; Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Esplin ED; Invitae, San Francisco, California., Moretz C; Invitae, San Francisco, California., Angione K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora., Ríos-Pohl L; Clinical Integral de Epilepsia, Facultad de Medicina, Universidad Finis Terrae, Santiago, Chile., Nussbaum RL; Invitae, San Francisco, California., Aradhya S; Invitae, San Francisco, California., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, North Carolina., Levy RJ; Division of Medical Genetics, Lucile Packard Children's Hospital at Stanford University, Stanford, California.; Division of Child Neurology, Lucile Packard Children's Hospital at Stanford University, Stanford, California., Parachuri VG; Kaiser Permanente, Portland, Oregon., Lay-Son G; Genetic Unit, Pediatrics Division, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., de Montellano DJD; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Ramirez-Garcia MA; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Benítez Alonso EO; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Ziobro J; Department of Pediatrics, University of Michigan, Ann Arbor., Chirita-Emandi A; Genetic Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy 'Victor Babes' Timisoara, Timis, Romania.; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children 'Louis Turcanu' Timisoara, Timis, Romania., Felix TM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Kulasa-Luke D; NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, Ohio., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jerome Lejeune, Paris, France., Karkare S; Cohen Children's Medical Center, Queens, New York., Chagnon SL; Children's Hospital of the King's Daughters, Norfolk, Virginia., Humberson JB; University of Virginia Pediatric Genetics and Metabolism, Charlottesville, Virginia., Assaf MJ; Banner Children's Neurology-Thunderbird, Glendale, Arizona., Silva S; Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile., Zarroli K; University of Florida-Jacksonville, Jacksonville., Boyarchuk O; I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Nelson GR; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Hammond KC; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Hwang ST; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York., Boutlier SB; ECU Physician Internal Medicine Pediatric Neurology, Greenville, North Carolina., Nolan M; Starship Child Health, Auckland, New Zealand., Batley KY; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas., Chavda D; SUNY Downstate Health Sciences University, Brooklyn, New York., Reyes-Silva CA; Facultad de Ciencias de la Salud, Universidad de los Hemisferios, Quito, Ecuador., Miroshnikov O; Institute of Pediatrics, Obstetrics and Gynecology, Kyiv, Ukraine., Zuccarelli B; University of Kansas School of Medicine-Salina, Salina., Amlie-Wolf L; Nemours Children's Hospital, Wilmington, Delaware., Wheless JW; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee., Seinfeld S; Joe DiMaggio Children's Hospital, Hollywood, Florida., Kanhangad M; Department of Paediatrics, Monash University, Clayton, Australia., Freeman JL; The Royal Children's Hospital Melbourne, Melbourne, Australia., Monroy-Santoyo S; Instituto Nacional de Pediatria/Centro Medico ABC, Mexico City, Mexico., Rodriguez-Vazquez N; University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico., Ryan MM; The Royal Children's Hospital Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia., Machie M; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas., Guerra P; Universidad San Sebastián, Department of Pediatrics, Medicine School, Patagonia Campus, Puerto Montt, Chile., Hassan MJ; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Candee MS; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Bupp CP; Spectrum Health, West Michigan Helen DeVos Children's Hospital, Grand Rapids, Michigan., Park KL; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Muller E 2nd; Clinical Genetics, Stanford Children's Health Specialty Services, San Francisco, California., Lupo P; Division of Neurology, Department of Pediatrics, University of Texas Medical Branch, League City., Pedersen RC; Hawaii Permanente Medical Group, Honolulu., Arain AM; Division of Epilepsy, Department of Neurology, University of Utah School of Medicine, Salt Lake City., Murphy A; Mary Bird Perkins Cancer Center, Baton Rouge, Louisiana., Schatz K; Johns Hopkins University, Baltimore, Maryland., Mu W; Johns Hopkins University, Baltimore, Maryland., Kalika PM; University of Miami, Miami, Florida., Plaza L; Hospital Materno Perinatal 'Mónica Pretelini Sáenz,' Toluca, México., Kellogg MA; Oregon Health & Science University, Portland., Lora EG; Dominican Neurological and Neurosurgical Society, Santo Domingo, Dominican Republic., Carson RP; Vanderbilt University Medical Center, Nashville, Tennessee., Svystilnyk V; Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Venegas V; Clínica Alemana de Santiago, Universidad del Desarrollo, Pediatric Neurology Unit, Santiago, Chile., Luke RR; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Jiang H; Nationwide Children's Hospital, Toledo, Ohio., Stetsenko T; Brain Stimulation Center, Kyiv, Ukraine., Dueñas-Roque MM; Hospital Nacional Edgardo Rebagliati Martins-EsSalud, Lima, Perú., Trasmonte J; Atrium Health Navicent, Macon, Georgia., Burke RJ; Division of Medical Genetics, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.; Division of Neonatology, Department of Pediatrics, West Virginia University School of Medicine, Morgantown., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham., Smith DM; Minnesota Epilepsy Group, St Paul., Massingham LJ; Hasbro Children's Hospital, Providence, Rhode Island.; Alpert Medical School, Brown University, Providence, Rhode Island., Pisani L; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.; Northwell Health, Medical Genetics, Great Neck, New York., Costin CE; Genetic Center, Akron Children's Hospital, Akron, Ohio., Ostrander B; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Ananth AL; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Mohamed IS; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Nechai A; Neurology Department, Kiev City Children Clinical Hospital No. 1, Kyiv City, Ukraine., Dao JM; Adult and Child Neurology Medical Associates, Long Beach, California.; Miller Children's Hospital, Long Beach, California., Fahey MC; Department of Paediatrics, Monash University, Clayton, Australia., Aliu E; Department of Genetics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Falchek S; Nemours Children's Hospital, Wilmington, Delaware.; Thomas Jefferson University, Philadelphia, Pennsylvania., Press CA; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Treat L; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Eschbach K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Starks A; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Kammeyer R; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Bear JJ; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Jacobson M; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Chernuha V; Pediatric Neurology Institute, 'Dana-Dwek' Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Meibos B; University of Utah, Salt Lake City., Wong K; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Sweney MT; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Espinoza AC; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Van Orman CB; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Weinstock A; Division of Child Neurology, Department of Neurology, University at Buffalo, Buffalo, New York.; Oishei Children's Hospital, Buffalo, New York., Kumar A; Department of Pediatrics and Neurology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Nolan DA; Pediatric Epilepsy, Beaumont Children's, Royal Oak, Michigan., Raza M; Nishtar Medical University, Multan, Punjab, Pakistan., Rojas Carrion MD; Alejandro Mann Hospital Complex, Guayaquil, Ecuador., Chari G; SUNY Downstate Health Sciences University, Brooklyn, New York.; Kings County Hospital Center, Brooklyn, New York., Marsh ED; Division of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; University of Pennsylvania Perelman School of Medicine, Philadelphia., Shiloh-Malawsky Y; University of North Carolina at Chapel Hill, Chapel Hill., Parikh S; Neurogenetics, Cleveland Clinic, Cleveland, Ohio., Gonzalez-Giraldo E; University of California-San Francisco, San Francisco., Fulton S; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee., Sogawa Y; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Burns K; Sanford Health, Sioux Falls, South Dakota., Malets M; Uzhhorod National University, Uzhhorod, Ukraine., Montiel Blanco JD; National Institute of Child Health, Lima, Perú., Habela CW; Johns Hopkins University, Baltimore, Maryland., Wilson CA; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Guzmán GG; Servicio Neuropsiquiatria Infantil, Hospital San Borja Arriarán, Santiago, Chile., Pavliuk M; Volyn Regional Hospital, Lutsk, Ukraine.

Publikováno v: JAMA neurology [JAMA Neurol] 2022 Dec 01; Vol. 79 (12), pp. 1267-1276.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

Autor: Massingham LJ; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI; Warren Alpert Medical School of Brown University, Providence, RI., Nuñez S; Department of Genetics, Yale University School of Medicine, New Haven, CT., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA., Gardner DP; Department of Biomedical Sciences, Marian University College of Osteopathic Medicine, Indianapolis, IN., Parikh AS; Center for Human Genetics, University Hospitals Cleveland Medical Center, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH., Strovel ET; Department of Pathology, University of Maryland School of Medicine, Baltimore, MD., Quintero-Rivera F; Division of Genetic and Genomic Medicine, Departments of Pathology, Laboratory Medicine, and Pediatrics, School of Medicine, University of California, Irvine (UCI), Irvine, CA. Electronic address: fabiolaq@hs.uci.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2167-2179. Date of Electronic Publication: 2022 Aug 31.