The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation.

Autor: Cavallari LH; Department of Pharmacotherapy and Translational Research and Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville., Hicks JK; Department of Pathology, Moffitt Cancer Center, Tampa, Florida., Patel JN; Atrium Health Levine Cancer Institute, Charlotte.; Atrium Health Wake Forest Baptist Comprehensive Cancer Center, Winston-Salem, North Carolina., Elchynski AL; Department of Pharmacy, Arkansas Children's Hospital, Little Rock, Arkansas., Smith DM; MedStar Health, Columbia, Maryland.; Department of Oncology, Georgetown University Medical Center, Washington, DC., Bargal SA; Department of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland., Fleck A; Department of Pharmacy, Richard L. Roudebush Veterans Affairs Medical Center, Veteran Health Indiana, Indianapolis, Indiana., Aquilante CL; Department of Pharmaceutical Sciences, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, Aurora, Colorado.; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Killam SR; L.S. Skaggs Institute for Health Innovation and Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana., Lemke L; Lifespan, Providence, Rhode Island, USA., Ochi T; Department of Pharmacotherapy, Epidemiology & Economics, Groningen Research Institute of Pharmacy; and University Library, University of Groningen, Groningen, The Netherlands., Ramsey LB; Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri., Haidar CE; Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee., Ho T; Department of Pathology, Moffitt Cancer Center, Tampa, Florida., El Rouby N; Department of Pharmacy, St. Elizabeth HealthCare, Edgewood, Kentucky.; Division of Pharmacy Practice and Administrative Sciences, James L. Winkle College of Pharmacy, University of Cincinnati, Cincinnati, Ohio., Monte AA; Rocky Mountain Poison & Drug Safety, Denver Health & Hospital Authority, Denver, Colorado.; University of Colorado School of Medicine, Aurora, Colorado., Allen JD; Department of Pharmacy, St. Elizabeth HealthCare, Edgewood, Kentucky., Beitelshees AL; Department of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland., Bishop JR; Department of Experimental and Clinical Pharmacology and Department of Psychiatry and Behavioral Sciences, University of Minnesota, Minneapolis, Minnesota, USA., Bousman C; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Campbell R; Allegheny General Hospital, Allegheny Health Network, Pittsburgh, Pennsylvania., Cicali EJ; Department of Pharmacotherapy and Translational Research and Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville., Cook KJ; Department of Pharmacy Education and Practice, University of Florida College of Pharmacy.; Nemours Children's Health, Jacksonville, Florida., Duong B; Precision Medicine Program, Nemours Children's Health Delaware Valley, Wilmington, Delaware, USA., Tsermpini EE; Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Girdwood ST; Divisions of Hospital Medicine and Translational and Clinical Pharmacology, Cincinnati Children's Hospital.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Gregornik DB; Pharmacogenomics Program, Children's Minnesota, Minneapolis/St Paul, Minnesota., Grimsrud KN; Department of Pathology and Laboratory Medicine, University of California Health, Sacramento, California., Lamb N; Department of Pharmacy, Ann & Robert H. Lurie Children's Hospital of Chicago., Lee JC; Department of Pharmacy Practice, University of Illinois at Chicago, Chicago, Illinois, USA., Lopez RO; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo León, Mexico., Mazhindu TA; African Institute of Biomedical Sciences & Technology, Harare, Zimbabwe., Morris SA; Atrium Health Levine Cancer Institute, Charlotte.; Atrium Health Wake Forest Baptist Comprehensive Cancer Center, Winston-Salem, North Carolina., Nagy M; Personalised Medication Management Unit, Children's Cancer Hospital Egypt 57357, Cairo, Egypt., Nguyen J; Personalized Care Program, Children's Hospital Los Angeles, Los Angeles, California., Pasternak AL; Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, Michigan., Petry N; Sanford Imagenetics, Sanford Health, Sioux Falls, South Dakota.; Department of Pharmacy Practice, North Dakota State University, Fargo, North Dakota, USA., van Schaik RHN; Department of Clinical Chemistry, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schultz A; Sanford Imagenetics, Sanford Health, Sioux Falls, South Dakota.; Department of Internal Medicine, University of South Dakota School of Medicine, Vermillion, South Dakota., Skaar TC; Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana, USA., Al Alshaykh H; Pharmaceutical Care Department, King Faisal Specialist Hospital and Research Center, College of Pharmacy, Alfaisal University, Riyadh, Saudi Arabia., Stevenson JM; Division of Clinical Pharmacology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland., Stone RM; Department of Pharmacy, University of Virginia, Charlottesville, Virginia., Tran NK; Department of Pathology and Laboratory Medicine, University of California Health, Sacramento, California., Tuteja S; University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Woodahl EL; L.S. Skaggs Institute for Health Innovation and Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana., Yuan LC; Providence Health and Services, Irvine, California and., Lee CR; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Publikováno v: Pharmacogenetics and genomics [Pharmacogenet Genomics] 2024 Oct 04. Date of Electronic Publication: 2024 Oct 04.

Caught in the Act: A Detailed Analysis of Cardiac Event Monitoring in a Cohort of Pediatric and ACHD Patients.

Autor: Srivatsav A; Department of Pediatrics, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas, USA., Thompson ZJ; Department of Pediatrics, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas, USA., Bruno MA; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Stephens SB; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Gutierrez ME; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Miyake CY; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Morris SA; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Dan Pham T; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Valdes SO; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Kim JJ; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA., Howard TS; Department of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

Publikováno v: Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2024 Oct 13. Date of Electronic Publication: 2024 Oct 13.

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

Autor: Mansoorshahi S; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Yetman AT; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA., Bissell MM; Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK., Kim YY; Division of Cardiovascular Medicine, The Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Michelena HI; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., De Backer J; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Mosquera LM; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Hui DS; Department of Cardiothoracic Surgery, University of Texas Health Science Center, San Antonio, TX, USA., Caffarelli A; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, USA., Andreassi MG; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Foffa I; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Guo D; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Citro R; Cardiothoracic and Vascular Department, University Hospital 'San Giovanni di Dio e Ruggi d'Aragona,' Salerno, Italy., De Marco M; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy., Tretter JT; Cleveland Clinic, Cleveland, OH, USA., Morris SA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Body SC; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Prakash SK; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2219-2231. Date of Electronic Publication: 2024 Sep 02.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Autor: Lin AE; Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Scimone ER; Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Thom RP; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Balaguru D; Pediatric Cardiology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Kinane TB; Pediatric Pulmonary and Sleep Medicine, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Moschovis PP; Pediatric Pulmonary and Sleep Medicine, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Cohen MS; Pediatric Otorhinolaryngology, Massachusetts Eye and Ear, Boston, Massachusetts, USA., Tan W; Pediatric Nephrology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Hague CD; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Dannheim K; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA., Levitsky LL; Pediatric Endocrinology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Lilly E; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA., DiGiacomo DV; Division of Rheumatology, Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Masse KM; Department of Physical Therapy, Massachusetts General Hospital, Boston, Massachusetts, USA., Kadzielski SM; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Pediatric Gastroenterology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Zar-Kessler CA; Pediatric Gastroenterology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Ginns LC; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Neumeyer AM; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Pediatric Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Colvin MK; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Elder JS; Division of Pediatric Urology, Department of Urology, Massachusetts General Hospital, Boston, Massachusetts, USA., Learn CP; Division of Cardiology, Department of Medicine, Corrigan Minehan Heart Center, Adult Congenital Heart Disease, Massachusetts General Hospital, Boston, Massachusetts, USA., Mou H; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA., Weagle KM; Department of Child Life, Pediatric Imaging Program, Massachusetts General Hospital, Boston, Massachusetts, USA., Buch KA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Alhadid K; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Musolino PL; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Sultana S; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bandyopadhyay D; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Rapalino O; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Peacock ZS; Oral and Maxillofacial Surgery, Massachusetts General Hospital and Harvard School of Dental Medicine, Boston, Massachusetts, USA., Chou EL; Division of Vascular and Endovascular Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Heidary G; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA., Dorfman AT; Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Morris SA; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Bergin JD; Division of Cardiology, Department of Medicine, University of Virginia, Charlottesville, Virginia, USA., Rayment JH; Respiratory Medicine, Department of Pediatrics, British Columbia Children's Hospital and University of British Columbia, Vancouver, British Columbia, Canada., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Department of Otorhinolaryngology, Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Lindsay ME; Pediatric Cardiology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Pediatric Cardiology, Department of Pediatrics, Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63638. Date of Electronic Publication: 2024 May 23.

Abnormal Left Ventricular Strain Correlates with Left Ventricular Dysfunction but not Aortic Pathology in Marfan Syndrome in Children.

Autor: Connell PS; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, One Baylor Plaza, 6651 Main St., MC E2060.14, Houston, TX, 77030, USA., Morris SA; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, One Baylor Plaza, 6651 Main St., MC E2060.14, Houston, TX, 77030, USA., Doan TT; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, One Baylor Plaza, 6651 Main St., MC E2060.14, Houston, TX, 77030, USA., Weigand J; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, One Baylor Plaza, 6651 Main St., MC E2060.14, Houston, TX, 77030, USA. justin.weigand@bcm.edu.

Publikováno v: Pediatric cardiology [Pediatr Cardiol] 2023 Oct; Vol. 44 (7), pp. 1536-1545. Date of Electronic Publication: 2023 Jul 28.