4 results match your criteria: "University of Miami and Holtz Children's Hospital[Affiliation]"
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Neurology
January 2025
From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL.
Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).
View Article and Find Full Text PDFJansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
July 2023
Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS.
View Article and Find Full Text PDFAdvances in Neonatal Acute Kidney Injury.
Pediatrics
November 2021
Division of Nephrology, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
In this state-of-the-art review, we highlight the major advances over the last 5 years in neonatal acute kidney injury (AKI). Large multicenter studies reveal that neonatal AKI is common and independently associated with increased morbidity and mortality. The natural course of neonatal AKI, along with the risk factors, mitigation strategies, and the role of AKI on short- and long-term outcomes, is becoming clearer.
View Article and Find Full Text PDFNo Silver Bullet: Firearm Laws and Pediatric Death Prevention.
Pediatrics
August 2019
Department of Pediatrics, University of Miami and Holtz Children's Hospital, Miami, Florida