Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment.

Autor: Hanson-Kahn A; Stanford Health Care, Stanford, California, USA., Rowe-Teeter C; Stanford Health Care, Stanford, California, USA., Siskind C; Stanford Health Care, Stanford, California, USA., Dykzeul N; Stanford Health Care, Stanford, California, USA.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2024 Feb; Vol. 33 (1), pp. 164-167. Date of Electronic Publication: 2024 Feb 14.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Autor: Wigby K; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Hammer M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Tokita M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Patel P; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA., Jones MC; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA., Larson A; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Bartolomei FV; Torre Medica del San Jorge Hospital, San Juan, Puerto Rico, USA.; Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, California, USA., Dykzeul N; Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, California, USA., Slavotinek A; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, California, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Yip T; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, California, USA., Bandres-Ciga S; Center for Alzheimer's Disease and Related Dementias (CARD), National Institute on Aging (NIA), National Institutes of Health (NIH), Bethesda, Maryland, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Suhrie K; Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Genetics, Division of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Shankar S; Department of Pediatrics, Division of Genetics, University of California, Davis, Sacramento, California, USA., Veith R; Children's Minnesota, Minneapolis, Minnesota, USA., Bragg J; Department of Pediatrics, Division of Newborn Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Powell C; Department of Pediatrics, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Dimmock D; Creyon Bio Inc, San Diego, California, USA., Maron J; Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.; Department of Pediatrics, The Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA.; Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Davis J; Department of Pediatrics, The Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA.; The Tufts Clinical and Translation Science Institute, Tufts University School of Medicine, Boston, Massachusetts, USA., Del Campo M; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 930-940. Date of Electronic Publication: 2023 Jan 18.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Autor: Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address: silvestre.cuinat@chu-nantes.fr., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Stegmann A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Holwerda SJB; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Khalifa M; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates., Nugud AA; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates., Yasaei H; Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates., Ousager LB; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark., Deb W; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Amsterdam KH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Matalon D; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Dykzeul N; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., White S; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Spiteri E; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Devriendt K; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium., Willemsen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerkes EH; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Krantz ID; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Xu ZL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain., Cusco I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Yang Y; AiLife Diagnostics, Pearland, TX., Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France., Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Bezieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France. Electronic address: benjamin.cogne@chu-nantes.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1774-1780. Date of Electronic Publication: 2022 May 14.

Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.

Autor: Regan-Fendt, Kelly E., Izumi, Kosuke

Publikováno v: Human Genetics; Apr2024, Vol. 143 Issue 4, p529-544, 16p

Nevus comedonicus syndrome: A systematic review of the literature.

Autor: Torchia, Daniele

Publikováno v: Pediatric Dermatology; Mar2021, Vol. 38 Issue 2, p359-363, 5p