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Analysis of clinically relevant variants from ancestrally diverse Asian genomes

Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast As

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0d28be6ed35ac6afe69b29f92c16b11
https://hdl.handle.net/10356/168639

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Akademický článek

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.

Autor: Wu X; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; St Bartholomew's Hospital, Barts Health NHS Trust, London, UK., Azizan EAB; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. elena.azizan@ukm.edu.my.; Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia. elena.azizan@ukm.edu.my., Goodchild E; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; St Bartholomew's Hospital, Barts Health NHS Trust, London, UK., Garg S; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.; Clinical Pharmacology Unit, University of Cambridge, Cambridge, UK., Hagiyama M; Department of Pathology, Faculty of Medicine, Kindai University, Osakasayama, Japan., Cabrera CP; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Centre for Translational Bioinformatics, William Harvey Research Institute, Queen Mary University of London, London, UK., Fernandes-Rosa FL; Université Paris Cité, PARCC, Inserm, Paris, France., Boulkroun S; Université Paris Cité, PARCC, Inserm, Paris, France., Kuan JL; Cardiovascular Disease Translational Research Programme, Department of Medicine, National University of Singapore, Singapore, Singapore., Tiang Z; Cardiovascular Disease Translational Research Programme, Department of Medicine, National University of Singapore, Singapore, Singapore., David A; Centre for Bioinformatics, Department of Life Sciences, Imperial College London, London, UK., Murakami M; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany., Mein CA; Barts and London Genome Centre, School of Medicine and Dentistry, Blizard Institute, London, UK., Wozniak E; Barts and London Genome Centre, School of Medicine and Dentistry, Blizard Institute, London, UK., Zhao W; Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK., Marker A; Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK., Buss F; Cambridge Institute for Medical Research, The Keith Peters Building, University of Cambridge, Cambridge, UK., Saleeb RS; Centre for Microvascular Research, William Harvey Research Institute, Queen Mary University of London, London, UK., Salsbury J; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; St Bartholomew's Hospital, Barts Health NHS Trust, London, UK., Tezuka Y; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Hospital, Sendai, Japan., Satoh F; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Hospital, Sendai, Japan.; Division of Clinical Hypertension, Endocrinology and Metabolism, Tohoku University Graduate School of Medicine, Sendai, Japan., Oki K; Department of Molecular and Internal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Udager AM; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA., Cohen DL; Renal Division, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Wachtel H; Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., King PJ; Department of Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Drake WM; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; St Bartholomew's Hospital, Barts Health NHS Trust, London, UK., Gurnell M; Metabolic Research Laboratories, Welcome Trust-MRC Institute of Metabolic Science, and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK., Ceral J; 1st Department of Internal Medicine-Cardioangiology, Charles University Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove, Hradec Kralove, Czech Republic., Ryska A; Department of Pathology, Charles University Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove, Hradec Kralove, Czech Republic., Mustangin M; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia., Wong YP; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia., Tan GC; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia., Solar M; 1st Department of Internal Medicine-Cardioangiology, Charles University Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove, Hradec Kralove, Czech Republic., Reincke M; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany., Rainey WE; Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, USA., Foo RS; Cardiovascular Disease Translational Research Programme, Department of Medicine, National University of Singapore, Singapore, Singapore., Takaoka Y; Department of Computational Drug Design and Mathematical Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyoma, Japan., Murray SA; Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Zennaro MC; Université Paris Cité, PARCC, Inserm, Paris, France.; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France., Beuschlein F; Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, UniversitätsSpital Zürich (USZ) und Universität Zürich (UZH), Zurich, Switzerland.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany., Ito A; Department of Pathology, Faculty of Medicine, Kindai University, Osakasayama, Japan., Brown MJ; Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. morris.brown@qmul.ac.uk.; NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. morris.brown@qmul.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2023 Jun; Vol. 55 (6), pp. 1009-1021. Date of Electronic Publication: 2023 Jun 08.

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Akademický článek

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Autor: Chan SH; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore.; Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, 169857, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308232, Singapore., Bylstra Y; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore., Teo JX; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore., Kuan JL; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore., Bertin N; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Gonzalez-Porta M; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Hebrard M; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Tirado-Magallanes R; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Tan JHJ; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Jeyakani J; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Li Z; Genome Research Informatics & Data Science Platform, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Chai JF; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, 117549, Singapore., Chong YS; Department of Obstetrics & Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.; Singapore Institute for Clinical Sciences, Singapore, 117609, Singapore., Davila S; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore.; Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School, Singapore, 169857, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, 168582, Singapore., Goh LL; Personalized Medicine Service, Tan Tock Seng Hospital, Singapore, 308433, Singapore., Lee ES; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308232, Singapore.; National Healthcare Group Polyclinics, Singapore, 138543, Singapore., Wong E; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Wong TY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, 168751, Singapore., Prabhakar S; Laboratory of Systems Biology and Data Analytics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore., Liu J; Human Genomics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore., Cheng CY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, 168751, Singapore.; Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore, 169857, Singapore., Eisenhaber B; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore.; Bioinformatics Institute, Agency for Science, Technology and Research, Singapore, 138671, Singapore., Karnani N; Human Development, Singapore Institute for Clinical Sciences, Singapore, 117609, Singapore.; Clinical Data Engagement, Bioinformatics Institute, Agency for Science, Technology and Research, Singapore, 138671, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 117596, Singapore., Leong KP; Personalized Medicine Service, Tan Tock Seng Hospital, Singapore, 308433, Singapore.; Department of Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore, 308433, Singapore., Sim X; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, 117549, Singapore., Yeo KK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore.; Department of Cardiology, National Heart Centre Singapore, Singapore, 169609, Singapore.; Duke-NUS Medical School, Singapore, 169857, Singapore., Chambers JC; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308232, Singapore.; Precision Health Research Singapore (PRECISE), Singapore, 139234, Singapore.; Department of Epidemiology and Biostatistics, Imperial College London, London, W2 1PG, UK., Tai ES; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, 117549, Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.; Duke-NUS Medical School, Singapore, 169857, Singapore.; Precision Health Research Singapore (PRECISE), Singapore, 139234, Singapore., Tan P; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore. patrick.tan@precise.cris.sg.; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore. patrick.tan@precise.cris.sg.; Precision Health Research Singapore (PRECISE), Singapore, 139234, Singapore. patrick.tan@precise.cris.sg.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, 169857, Singapore. patrick.tan@precise.cris.sg.; Cancer Science Institute of Singapore, National University of Singapore, Singapore, 117599, Singapore. patrick.tan@precise.cris.sg., Jamuar SS; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore. Saumya.S.Jamuar@singhealth.com.sg.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, 168582, Singapore. Saumya.S.Jamuar@singhealth.com.sg.; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, 229899, Singapore. Saumya.S.Jamuar@singhealth.com.sg.; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore, 169857, Singapore. Saumya.S.Jamuar@singhealth.com.sg., Ngeow J; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore. joanne.ngeow@ntu.edu.sg.; Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, 169857, Singapore. joanne.ngeow@ntu.edu.sg.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308232, Singapore. joanne.ngeow@ntu.edu.sg.; Institute of Molecular and Cellular Biology, Agency for Science, Technology and Research, Singapore, 138673, Singapore. joanne.ngeow@ntu.edu.sg., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, 169609, Singapore. wengkhong.lim@duke-nus.edu.sg.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, 168582, Singapore. wengkhong.lim@duke-nus.edu.sg.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, 169857, Singapore. wengkhong.lim@duke-nus.edu.sg.

Publikováno v: Nature communications [Nat Commun] 2022 Nov 05; Vol. 13 (1), pp. 6694. Date of Electronic Publication: 2022 Nov 05.

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Report

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Autor: Chin X; Department of Paediatric Medicine, Endocrinology Service, KK Women's and Children's Hospital, Singapore, Singapore., Sreedharan AV; Department of Paediatric Medicine, Endocrinology Service, KK Women's and Children's Hospital, Singapore, Singapore., Tan EC; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Singapore, Singapore., Wei H; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore., Kuan JL; SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore, Singapore., Ho CWW; Department of Paediatric Medicine, Gastroenterology Hepatology & Nutrition Service, KK Women's and Children's Hospital, Singapore, Singapore., Lam JCM; Department of Paediatric Subspecialties, Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore., Ting TW; Department of Paediatric Medicine, Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore., Vasanwala RF; Department of Paediatric Medicine, Endocrinology Service, KK Women's and Children's Hospital, Singapore, Singapore.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 29; Vol. 12, pp. 742495. Date of Electronic Publication: 2021 Sep 29 (Print Publication: 2021).

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Akademický článek

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Autor: Zhou J; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Azizan EAB; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK. elena.azizan@ukm.edu.my.; Department of Medicine, The National University of Malaysia (UKM) Medical Centre, Kuala Lumpur, Malaysia. elena.azizan@ukm.edu.my., Cabrera CP; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Centre for Translational Bioinformatics, William Harvey Research Institute, Queen Mary University of London, London, UK., Fernandes-Rosa FL; Université de Paris, PARCC, Inserm, Paris, France., Boulkroun S; Université de Paris, PARCC, Inserm, Paris, France., Argentesi G; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Cottrell E; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Amar L; Université de Paris, PARCC, Inserm, Paris, France.; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité Hypertension Artérielle, Paris, France., Wu X; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., O'Toole S; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Goodchild E; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Marker A; Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK., Senanayake R; Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK., Garg S; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK., Åkerström T; Department of Surgical Sciences, Uppsala University, Uppsala, Sweden., Backman S; Department of Surgical Sciences, Uppsala University, Uppsala, Sweden., Jordan S; Cellular Pathology Department, Royal London Hospital, London, UK., Polubothu S; Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK., Berney DM; Centre for Cancer Biomarkers and Biotherapeutics, Barts Cancer Institute, Queen Mary University of London, London, UK., Gluck A; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Lines KE; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Tuthill A; Department of Endocrinology and Diabetes, Cork University Hospital, Cork, Ireland., Joyce C; Clinical Biochemistry, Cork University Hospital, Cork, Ireland., Kaski JP; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and University College London Institute of Cardiovascular Science, London, UK., Karet Frankl FE; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Teo AED; Dept of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Gurnell M; Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK., Parvanta L; Department of Surgery, St Bartholomew's Hospital, London, UK., Drake WM; Department of Endocrinology, St Bartholomew's Hospital, London, UK., Wozniak E; Barts and London Genome Centre, School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK., Klinzing D; Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Kuan JL; Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Tiang Z; Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore., Gomez Sanchez CE; G.V. (Sonny) Montgomery VA Medical Center and Department of Pharmacology and Toxicology, University of Mississippi Medical Center, Jackson, MS, USA., Hellman P; Department of Surgical Sciences, Uppsala University, Uppsala, Sweden., Foo RSY; Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Mein CA; Barts and London Genome Centre, School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, UK., Kinsler VA; Cellular Pathology Department, Royal London Hospital, London, UK., Björklund P; Department of Surgical Sciences, Uppsala University, Uppsala, Sweden., Storr HL; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Zennaro MC; Université de Paris, PARCC, Inserm, Paris, France. maria-christina.zennaro@inserm.fr.; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France. maria-christina.zennaro@inserm.fr., Brown MJ; Endocrine Hypertension, Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, UK. morris.brown@qmul.ac.uk.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. morris.brown@qmul.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2021 Sep; Vol. 53 (9), pp. 1360-1372. Date of Electronic Publication: 2021 Aug 12.

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Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Autor: Bylstra Y; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Center, Singapore Health Services, Singapore, Singapore., Kam S; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Tham KW; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; Department of Physiology, National University of Singapore, Singapore, Singapore., Wu RR; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA., Teo JX; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore., Davila S; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Center, Singapore Health Services, Singapore, Singapore.; Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, Singapore., Kuan JL; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore., Chan SH; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Bertin N; Centre for Big Data and Integrative Genomics, Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore., Yang CX; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore., Rozen S; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, Singapore., Teh BT; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; National Cancer Centre Singapore, Singapore, Singapore., Yeo KK; Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, Singapore.; Department of Cardiology, National Heart Centre Singapore, Singapore, Singapore., Cook SA; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, Singapore.; Department of Cardiology, National Heart Centre Singapore, Singapore, Singapore., Jamuar SS; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Center, Singapore Health Services, Singapore, Singapore.; Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore., Ginsburg GS; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA., Orlando LA; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA. orlan002@duke.edu., Tan P; SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore. gmstanp@duke-nus.edu.sg.; Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, Singapore. gmstanp@duke-nus.edu.sg.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore. gmstanp@duke-nus.edu.sg.

Publikováno v: Genome medicine [Genome Med] 2021 Jul 05; Vol. 13 (1), pp. 109. Date of Electronic Publication: 2021 Jul 05.

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Akademický článek

Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Publikováno v: Genome medicine [Genome Med] 2021 Jan 07; Vol. 13 (1), pp. 3. Date of Electronic Publication: 2021 Jan 07.

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Akademický článek

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.

Autor: Bhatia NS; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Division of Genetics and Metabolism, Tufts Medical Center and the Floating Hospital for Children, Boston, Massachusetts, USA., Lim JY; Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Bonnard C; Institute of Medical Biology, A*STAR, Singapore., Kuan JL; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore., Brett M; KK Research Centre, KK Women's and Children's Hospital, Singapore., Wei H; KK Research Centre, KK Women's and Children's Hospital, Singapore., Cham B; Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Chin H; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Bosso-Lefevre C; Institute of Medical Biology, A*STAR, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Dharuman P; POLARIS, Genome Institute of Singapore, Singapore., Escande-Beillard N; Institute of Medical Biology, A*STAR, Singapore., Devasia AG; POLARIS, Genome Institute of Singapore, Singapore., Goh CYJ; Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Kam S; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore., Liew WK; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; SBCC Baby and Child Clinic, Singapore., Liew WK; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; SBCC Baby and Child Clinic, Singapore., Lin G; KK Research Centre, KK Women's and Children's Hospital, Singapore., Jain K; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; POLARIS, Genome Institute of Singapore, Singapore., Ng AY; Institute of Molecular and Cell Biology, A*STAR, Singapore., Subramanian D; POLARIS, Genome Institute of Singapore, Singapore., Xie M; POLARIS, Genome Institute of Singapore, Singapore., Tan YM; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; DNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital, Singapore., Tawari NR; POLARIS, Genome Institute of Singapore, Singapore., Tiang Z; Cardiovascular Research Institute, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore., Ting TW; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Tohari S; Institute of Molecular and Cell Biology, A*STAR, Singapore., Tong CK; POLARIS, Genome Institute of Singapore, Singapore., Lezhava A; POLARIS, Genome Institute of Singapore, Singapore., Ng SB; POLARIS, Genome Institute of Singapore, Singapore., Law HY; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; DNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore., Venkatesh B; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore., Tomar S; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Sethi R; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Tan G; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Shanmugasundaram A; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Goh DL; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore., Lai PS; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore.; Genome Institute of Singapore, A*STAR, Singapore., Lai A; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Tan ES; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Ng I; Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Reversades B; Institute of Medical Biology, A*STAR, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; POLARIS, Genome Institute of Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore., Tan EC; KK Research Centre, KK Women's and Children's Hospital, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore., Foo R; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; POLARIS, Genome Institute of Singapore, Singapore.; Cardiovascular Research Institute, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore.; National University Heart Centre, National University Health System, Singapore., Jamuar SS; Department of Paediatrics, KK Women's and Children's Hospital, Singapore saumya.s.jamuar@singhealth.com.sg.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore.; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore.

Publikováno v: Archives of disease in childhood [Arch Dis Child] 2021 Jan; Vol. 106 (1), pp. 31-37. Date of Electronic Publication: 2020 Aug 20.

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Akademický článek

Morphological processing in Chinese engages left temporal regions.

Autor: Ip KI; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States., Marks RA; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States., Hsu LS; Department of Psychology, The University of Hong Kong, Pokfulam, Hong Kong., Desai N; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States., Kuan JL; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States., Tardif T; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States., Kovelman L; Department of Psychology, University of Michigan, 530 Church Street, Ann Arbor, MI 48109, United States; Center for Human Growth and Development, University of Michigan, 300 North Ingalls, Ann Arbor, MI 48109, United States. Electronic address: Kovelman@umich.edu.

Publikováno v: Brain and language [Brain Lang] 2019 Dec; Vol. 199, pp. 104696. Date of Electronic Publication: 2019 Oct 23.

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Akademický článek

Genetic Mosaicism in Calmodulinopathy.

Autor: Wren LM; From the Department of Pharmacology (L.M.W., F.P., P.W.B., A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL., Jiménez-Jáimez J; Cardiology Department (J.J.-J.), Virgen de las Nieves Hospital, Granada, Spain., Al-Ghamdi S; Cardiac Sciences Department, Section of Pediatric Cardiology, King Abdulaziz Cardiac Center, Ministry of National Guard Health Affairs, Riyadh (S.A.-G.)., Al-Aama JY; Department of Genetic Medicine, Faculty of Medicine (J.Y.A.-A.), King Abdulaziz University, Jeddah.; Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders (J.Y.A.-A., A.B.), King Abdulaziz University, Jeddah., Bdeir A; Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders (J.Y.A.-A., A.B.), King Abdulaziz University, Jeddah., Al-Hassnan ZN; The Cardiovascular Genetics Program, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia (Z.N.A.-H.)., Kuan JL; Department of Cardiology, National University Heart Center and Cardiovascular Research Institute, National University of Singapore (J.L.K., R.Y.F.)., Foo RY; Department of Cardiology, National University Heart Center and Cardiovascular Research Institute, National University of Singapore (J.L.K., R.Y.F.)., Potet F; From the Department of Pharmacology (L.M.W., F.P., P.W.B., A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL., Johnson CN; Department of Biochemistry and Center for Structural Biology, Vanderbilt University, Nashville, TN (C.N.J., W.J.C.)., Aziz MC; Department of Neurology (M.C.A., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL., Carvill GL; Department of Neurology (M.C.A., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL., Kaski JP; Institute of Cardiovascular Science, University College London, United Kingdom (J.-P.K.)., Crotti L; Department of Medicine and Surgery, University of Milano-Bicocca (L.C.).; IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., P.J.S.).; Cardiology Department, Health in Code SL, A Coruña, Spain (L.M.)., Perin F; Pediatric Cardiology Division (F.P.), Virgen de las Nieves Hospital, Granada, Spain., Monserrat L; Cardiology Department, Health in Code SL, A Coruña, Spain (L.M.)., Burridge PW; From the Department of Pharmacology (L.M.W., F.P., P.W.B., A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL., Schwartz PJ; IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., P.J.S.)., Chazin WJ; Department of Biochemistry and Center for Structural Biology, Vanderbilt University, Nashville, TN (C.N.J., W.J.C.)., Bhuiyan ZA; Unité de Recherche Cardiogénétique, Service de Médecine Génétique, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (Z.A.B.)., George AL Jr; From the Department of Pharmacology (L.M.W., F.P., P.W.B., A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL.

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Sep; Vol. 12 (9), pp. 375-385. Date of Electronic Publication: 2019 Aug 27.

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