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J-GLOBAL ID：202002265381069480 整理番号：20A2783759

KDM4Bにおける異型接合変異体は全体的な発育遅延と神経解剖学的欠陥を導く【JST・京大機械翻訳】

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

著者 (45件)：

Duncan Anna R.

(Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA)

Vitobello Antonio

(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Vitobello Antonio

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Vitobello Antonio

(Centre de Reference Maladies Rares ≪ Anomalies du Developpement et Syndromes Malformatifs ≫, Centre de Genetique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Collins Stephan C.

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Vancollie Valerie E.

(Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK)

Lelliott Christopher J.

(Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK)

Rodan Lance

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Rodan Lance

(Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA)

Shi Jiahai

(Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, Hong Kong SAR)

Seman Ann R.

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Agolini Emanuele

(Laboratory of Medical Genetics Unit, Bambino Gesu Children’s Hospital, 00146 Rome, Italy)

Novelli Antonio

(Laboratory of Medical Genetics Unit, Bambino Gesu Children’s Hospital, 00146 Rome, Italy)

Prontera Paolo

(Medical Genetics Unit, Maternal-Infantile Department, Hospital and University of Perugia, 06129 Perugia, Italy)

Guillen Sacoto Maria J.

(Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA)

Santiago-Sim Teresa

(Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA)

Trimouille Aurelien

(Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France)

Goizet Cyril

(Reference Center for Neurogenetics, Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France)

Nizon Mathilde

(CHU Nantes, Genetic Medical Department, 44093 Nantes, France)

Bruel Ange-Line

(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Bruel Ange-Line

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Philippe Christophe

(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Philippe Christophe

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Grant Patricia E.

(Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA)

Grant Patricia E.

(Department of Radiology, Boston Children’s Hospital, Boston, MA 02115, USA)

Wojcik Monica H.

(Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA)

Wojcik Monica H.

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Stoler Joan

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Genetti Casie A.

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Genetti Casie A.

(The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA)

van Dooren Marieke F.

(Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, the Netherlands)

Maas Saskia M.

(Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands)

Alders Marielle

(Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands)

Faivre Laurence

(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Faivre Laurence

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Faivre Laurence

(Centre de Reference Maladies Rares ≪ Anomalies du Developpement et Syndromes Malformatifs ≫, Centre de Genetique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Sorlin Arthur

(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Sorlin Arthur

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Sorlin Arthur

(Centre de Reference Maladies Rares ≪ Anomalies du Developpement et Syndromes Malformatifs ≫, Centre de Genetique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Sorlin Arthur

(Centre de Reference Maladies Rares ≪ Deficiences Intellectuelles de Causes Rares ≫, Centre de Genetique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France)

Yoon Grace

(Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada)

Yalcin Binnaz

(INSERM UMR1231 GAD, Universite de Bourgogne Franche-Comte, 21000 Dijon, France)

Agrawal Pankaj B.

(Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA)

Agrawal Pankaj B.

(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)

Agrawal Pankaj B.

(The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA)

資料名：

American Journal of Human Genetics (American Journal of Human Genetics)

巻： 107 号： 6 ページ： 1170-1177 発行年： 2020年
JST資料番号： B0360B ISSN： 0002-9297 資料種別：逐次刊行物 (A)
記事区分：短報発行国：オランダ (NLD) 言語：英語 (EN)

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