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Tytuł:
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Autorzy:
Halfmeyer I; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Popp B; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Center of Functional Genomics, Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Hessische Straße 4A, 10115 Berlin, Germany.
Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Helms T; Limbus Medical Technologies GmbH, Neuer Markt 9/10, 18055 Rostock, Germany.
Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Popp D; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
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Źródło:
Genes [Genes (Basel)] 2022 Dec 22; Vol. 14 (1). Date of Electronic Publication: 2022 Dec 22.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Humans ; Exome Sequencing ; Cohort Studies ; Rare Diseases
Czasopismo naukowe
Szczegóły
Tytuł:
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Autorzy:
Tosco-Herrera E; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.
Muñoz-Barrera A; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Jáspez D; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Rubio-Rodríguez LA; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Mendoza-Alvarez A; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.
Rodriguez-Perez H; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.
Jou J; Department of Surgery, University of Illinois College of Medicine, Peoria, Illinois, USA.
Iñigo-Campos A; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Corrales A; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
Ciuffreda L; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.
Martinez-Bugallo F; Clinical Analysis Service, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.
Prieto-Morin C; Clinical Analysis Service, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.
García-Olivares V; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
González-Montelongo R; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Lorenzo-Salazar JM; Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.
Marcelino-Rodriguez I; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.
Flores C; Research Unit, Hospital Universitario Nuestra Señora de Candelaria (HUNSC), Santa Cruz de Tenerife, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Granadilla de Abona, Spain.; CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.; Facultad de Ciencias de la Salud, Universidad Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.
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Źródło:
Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 2010-2020. Date of Electronic Publication: 2022 Sep 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Germ-Line Mutation*
Humans ; Exome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Autorzy:
Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria.; Department of Paediatrics, The University of Melbourne, Victoria.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria.; Murdoch Children's Research Institute, Parkville, Victoria.
Bennett CA; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria.
Gill D; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, New South Wales.
de Silva MG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria.; Australian Genomics Health Alliance, Melbourne.
Boggs K; Australian Genomics Health Alliance, Melbourne.; Sydney Children's Hospitals Network, Sydney.
Marum J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria.
Baker N; Department of Paediatrics, The University of Melbourne, Victoria.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria.
Palmer EE; Clinical Genetics Service, Sydney Children's Hospital, Randwick, New South Wales.
Howell KB; Department of Paediatrics, The University of Melbourne, Victoria.; Murdoch Children's Research Institute, Parkville, Victoria.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.
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Corporate Authors:
Australian Genomics DEE Flagship
Źródło:
Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Jan; Vol. 65 (1), pp. 50-57. Date of Electronic Publication: 2022 Jun 14.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Spasms, Infantile*/genetics
Child ; Male ; Female ; Humans ; Exome Sequencing ; Seizures/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Autorzy:
Al Anazi AH; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Ammar AS; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Al-Hajj M; Department of Neurosurgery, King Fahd Hospital, Alhafof, Saudi Arabia.
Cyrus C; Department of Clinical Biochemistry, College of Medicine, Imam Abdulrahman Bin Faisal University, P. O. Box 1982, 31441, Dammam, Saudi Arabia.
Aljaafari D; Department of Neurology, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Khoda I; Department of Neurology, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Abdelfatah AK; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Alsulaiman AA; Department of Neurology, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Alanazi F; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Alanazi R; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Gandla D; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Lad H; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Barayan S; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Keating BJ; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Al-Ali AK; Department of Clinical Biochemistry, College of Medicine, Imam Abdulrahman Bin Faisal University, P. O. Box 1982, 31441, Dammam, Saudi Arabia. .
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Źródło:
Human genomics [Hum Genomics] 2022 Dec 20; Vol. 16 (1), pp. 71. Date of Electronic Publication: 2022 Dec 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Epilepsy*/epidemiology
Epilepsy*/genetics
Epilepsy*/diagnosis
Humans ; Saudi Arabia/epidemiology ; Exome Sequencing ; Pedigree ; Genetic Predisposition to Disease
Czasopismo naukowe
Szczegóły
Tytuł:
Phenotype-aware prioritisation of rare Mendelian disease variants.
Autorzy:
Kelly C; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Szabo A; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Pontikos N; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Arno G; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Smedley D; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK. Electronic address: .
Cipriani V; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK; UCL Genetics Institute, University College London, London, WC1E 6AA, UK. Electronic address: .
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Źródło:
Trends in genetics : TIG [Trends Genet] 2022 Dec; Vol. 38 (12), pp. 1271-1283. Date of Electronic Publication: 2022 Aug 04.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Humans ; Phenotype ; Exome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Autorzy:
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: .
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Howley H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Brudno M; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada.
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Corporate Authors:
Care4Rare Canada Consortium
Źródło:
American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 1947-1959.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Exome*/genetics
Humans ; Canada ; Exome Sequencing ; Genetic Association Studies
Czasopismo naukowe
Szczegóły
Tytuł:
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Autorzy:
Kumar RD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
Miyake CY; Department of Pediatrics, Division of Cardiology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3184-3190. Date of Electronic Publication: 2022 Sep 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Exome*/genetics
Stroke*/diagnosis
Stroke*/genetics
Humans ; Phenotype ; Retrospective Studies ; Exome Sequencing/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Autorzy:
Hebert A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
Simons A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
Koenen HJPM; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.
Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
Schatorjé EJH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Hoppenreijs EPAH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Leenders EKSM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
Janssen EJM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands.
Santen GWE; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
de Munnik SA; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
van Reijmersdal SV; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
van Rijssen E; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.
Kersten S; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department for Immunology and Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany.
Smeets RL; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Laboratory Medicine, Laboratory for Diagnostics, Radboud University Medical Center, Nijmegen, Netherlands.
van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
van der Made CI; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
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Źródło:
ELife [Elife] 2022 Oct 17; Vol. 11. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Hereditary Autoinflammatory Diseases*/genetics
Humans ; Exome Sequencing ; Retrospective Studies ; Sequence Analysis, DNA
Czasopismo naukowe
Szczegóły
Tytuł:
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.
Autorzy:
McDermott H; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Sherlaw-Sturrock C; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. Electronic address: .
Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, UK; Peninsula Medical School, Faculty of Health, University of Plymouth, UK.
Hartles-Spencer L; West Midlands Regional Genetics Laboratory, Birmingham, UK.
Naik S; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104571. Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article
MeSH Terms:
Critical Illness*
Exome*/genetics
Child ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Retrospective Studies ; State Medicine ; Exome Sequencing/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
Autorzy:
Tan R; Department of Systems Biology, Columbia University, New York, NY 10032, USA.
Shen Y; Department of Systems Biology, Columbia University, New York, NY 10032, USA.; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.; JP Sulzberger Columbia Genome Center, Columbia University, New York, NY 10032, USA.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2022 Nov 28; Vol. 50 (21), pp. e123.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
DNA Copy Number Variations*
Humans ; Exome Sequencing ; Algorithms ; Machine Learning ; High-Throughput Nucleotide Sequencing/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Autorzy:
Cornthwaite M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Turner K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Chang C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Langlois S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2022 Nov; Vol. 42 (12), pp. 1514-1524. Date of Electronic Publication: 2022 Sep 18.
Typ publikacji:
Journal Article
MeSH Terms:
Laboratories*
Exome*
Pregnancy ; Female ; Humans ; Retrospective Studies ; Exome Sequencing/methods ; Fetus/abnormalities ; Genetic Testing/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Autorzy:
Rauf B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.
Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Irum B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Ashfaq R; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Zehra M; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Khan AA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Shahzad M; Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550, Pakistan.
Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.; Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550, Pakistan.
Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Oct 14; Vol. 12 (1), pp. 17218. Date of Electronic Publication: 2022 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Glaucoma*/congenital
Glaucoma*/genetics
Consanguinity ; Humans ; Latent TGF-beta Binding Proteins/genetics ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Feasibility of a novel non-invasive swab technique for serial whole-exome sequencing of cervical tumors during chemoradiation therapy.
Autorzy:
Bronk JK; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Kapadia C; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.
Wu X; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Chapman BV; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Wang R; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Karpinets TV; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Song X; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Futreal AM; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Zhang J; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Klopp AH; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Colbert LE; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Oct 06; Vol. 17 (10), pp. e0274457. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Uterine Cervical Neoplasms*/genetics
Uterine Cervical Neoplasms*/therapy
Feasibility Studies ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.
Autorzy:
Zhang J; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Lu Y; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Tian X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Men X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Zhang Y; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Yan H; Department of Pediatrics, Hengshui people's Hospital, Hengshui, Hebei, China.
Yang F; Cipher Gene LLC, Beijing, China.
Yang Z; Cipher Gene LLC, Beijing, China.
Wang X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Oct; Vol. 10 (10), pp. e2036. Date of Electronic Publication: 2022 Aug 13.
Typ publikacji:
Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Proteins*
Adaptor Proteins, Signal Transducing ; Child ; Female ; Gene Frequency ; Homozygote ; Humans ; Exome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exome Sequencing in an ADSHE Family: VUS Identification and Limits.
Autorzy:
Villa C; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Arrigoni F; Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy.
Rivellini E; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Lavitrano M; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
De Gioia L; Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy.
Ferini-Strambi L; Department of Clinical Neurosciences, Neurology-Sleep Disorder Center, IRCCS San Raffaele Scientific Institute, 20127 Milan, Italy.; Department of Clinical Neurosciences, Vita-Salute San Raffaele University, 20127 Milan, Italy.
Combi R; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
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Źródło:
International journal of environmental research and public health [Int J Environ Res Public Health] 2022 Oct 01; Vol. 19 (19). Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epilepsy*
Exome*
Arthrogryposis ; Humans ; Mutation ; Pedigree ; Exome Sequencing/methods
SCR Disease Name:
Multiple Pterygium Syndrome, Autosomal Dominant
Czasopismo naukowe
Szczegóły
Tytuł:
Exploiting adaptive immune receptor recombination read recoveries from exome files to identify subsets of ALL and to establish TCR features that correlate with better outcomes.
Autorzy:
Gozlan EC; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
Chobrutskiy BI; Department of Internal Medicine, Oregon Health and Science University Hospital, Portland, Oregon, USA.
Blanck G; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Department of Immunology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2022 Oct; Vol. 44 (5), pp. 883-891. Date of Electronic Publication: 2022 May 09.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
T-Lymphocytes*
Complementarity Determining Regions ; Humans ; Recombination, Genetic ; Exome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Using the Sankey diagram to visualize article features on the topics of whole-exome sequencing (WES) and whole-genome sequencing (WGS) since 2012: Bibliometric analysis.
Autorzy:
Li MJ; Department of Pediatrics, National Taiwan University Hsin-Chu Hospital, Hsinchu, Taiwan.; Department of Biological Science and Technology, College of Biological Science and Technology, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Chien TW; Department of Medical Research, Chi-Mei Medical Center, Tainan, Taiwan.
Liao KW; Department of Biological Science and Technology, College of Biological Science and Technology, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.; Institute of Molecular Medicine and Bioengineering, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Lai FJ; Department of Dermatology, Chi Mei Medical Center, Tainan, Taiwan.; Center for General Education, Southern Taiwan University of Science and Technology, Tainan, Taiwan.
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Źródło:
Medicine [Medicine (Baltimore)] 2022 Sep 23; Vol. 101 (38), pp. e30682.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Genome, Human*
Bibliometrics ; Humans ; Exome Sequencing ; Whole Genome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Autorzy:
Monti R; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.
Rautenstrauch P; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.; Humboldt-Universität zu Berlin, Department of Computer Science, 10099, Berlin, Germany.
Ghanbari M; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.
James AR; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.
Kirchler M; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; TU Kaiserslautern, Department of Computer Science, 67663, Kaiserslautern, Germany.
Ohler U; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.; Humboldt-Universität zu Berlin, Department of Biology, 10099, Berlin, Germany.
Konigorski S; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; Hasso Plattner Institute for Digital Health, Icahn School of Medicine at Mount Sinai, New York, 10029-6574, NY, USA.
Lippert C; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany. .; Hasso Plattner Institute for Digital Health, Icahn School of Medicine at Mount Sinai, New York, 10029-6574, NY, USA. .
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Źródło:
Nature communications [Nat Commun] 2022 Sep 10; Vol. 13 (1), pp. 5332. Date of Electronic Publication: 2022 Sep 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Mutation, Missense*
Genetic Association Studies ; Genetic Markers ; Humans ; Ion Channels/genetics ; Exome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Autorzy:
Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia. .; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia. .
Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
Boggs K; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; Department of Clinical Genetics, Children's Hospital Westmead, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
Vidic N; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Mowat D; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
Christodoulou J; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Schultz A; Wal-Yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Perth, Australia.; Department of Respiratory Medicine, Perth Children's Hospital, Nedlands, WA, Australia.; Division of Paediatrics, Faculty of Medicine, University of Western Australia, Perth, Australia.
Gayagay T; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.
Zhu Y; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
Lunke S; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Armstrong D; Department of Paediatrics, Monash University, Clayton Rd, Clayton, VIC, Australia.; Department of Respiratory and Sleep Medicine, Monash Children's Hospital, Clayton Rd, Clayton, VIC, Australia.
Harrison J; University of Melbourne, Melbourne, VIC, Australia.; Department of Respiratory and Sleep Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.
Kapur N; Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine, University of Queensland, Brisbane, QLD, Australia.
McDonald T; The Canberra Hospital, Garran, ACT, Australia.
Selvadurai H; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Children's Hospital Westmead, Sydney, NSW, Australia.
Tai A; Paediatric Respiratory and Sleep Department, Women's and Children's Hospital, Adelaide, SA, Australia.; Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
Stark Z; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Jaffe A; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Department Respiratory and Sleep Medicine, Sydney Children's Hospital, Randwick, NSW, Australia.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 09; Vol. 17 (1), pp. 350. Date of Electronic Publication: 2022 Sep 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Lung Diseases*
Australia ; Hospitals ; Humans ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Autorzy:
Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Sedighzadeh S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Negahdari S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Legal Medicine Research Center, Legal Medicine Organization, Ahvaz, Iran.
Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. .; Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. .
Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran. .
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Sep; Vol. 297 (5), pp. 1289-1300. Date of Electronic Publication: 2022 Jun 26.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Genetic Profile*
Genome-Wide Association Study ; Humans ; Iran ; Mutation ; Pedigree ; Vision Disorders ; Exome Sequencing
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 29163

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