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Tytuł :
Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.
Autorzy :
Cao Q; Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Yang Y; Department of Obstetrics and Gynaecology, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Pan M; Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Han J; Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Yang X; Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Li DZ; Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: .
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Źródło :
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2021 May; Vol. 260, pp. 59-63. Date of Electronic Publication: 2021 Mar 13.
Typ publikacji :
Journal Article
MeSH Terms :
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Exome*
Female ; Fetal Movement ; Genetic Counseling ; Humans ; Pregnancy ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Exome sequencing for the patients with SRY-negative 46,XX testicular disorder of sex development.
Autorzy :
Kim JW; Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Republic of Korea.
Song SH; Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University, Republic of Korea.
Sung SR; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Republic of Korea.
Shim SH; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, 06135, Republic of Korea; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, Republic of Korea. Electronic address: .
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Źródło :
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2021 May; Vol. 260, pp. 240-243. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Letter
MeSH Terms :
Disorders of Sex Development*
Exome*
Humans ; Male ; Sexual Development ; Testis ; Whole Exome Sequencing
Opinia redakcyjna
Tytuł :
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Autorzy :
Tolusso LK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. .; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. .
Hazelton P; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Wong B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Swarr DT; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Neonatology and Pulmonary Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 909-917. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Exome*/genetics
Prenatal Diagnosis*
Female ; Fetus ; Humans ; Infant, Newborn ; Pregnancy ; Retrospective Studies ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Autorzy :
Ruiz-Schultz N; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Sant D; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
Norcross S; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Dansithong W; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Hart K; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Asay B; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Little J; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
Chung K; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
Oakeson KF; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Young EL; Utah Public Health Laboratory, Salt Lake City, UT, USA.
Eilbeck K; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
Rohrwasser A; Utah Public Health Laboratory, Salt Lake City, UT, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 767-776. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Exome*/genetics
Neonatal Screening*
Feasibility Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
Autorzy :
Talati AN; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine University of North Carolina School of Medicine, Chapel Hill, NC, USA. .
Gilmore KL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Hardisty EE; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Lyerly AD; Department of Social Medicine and Center for Bioethics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Rini C; Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine and the Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL, USA.
Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine University of North Carolina School of Medicine, Chapel Hill, NC, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 713-719. Date of Electronic Publication: 2020 Nov 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Exome*/genetics
Ultrasonography, Prenatal*
Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Autorzy :
Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. .
Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Constantinou P; Queen Elizabeth University Hospital, Glasgow, UK.
Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. .; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK. .
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Corporate Authors :
DDD Study
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 571-575. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Genetic*
Exome*
Gene Frequency ; Humans ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Autorzy :
Jayasinghe K; Department of Nephrology, Monash Medical Centre, Melbourne, Australia.; School of Clinical Sciences, Monash University, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.
Stark Z; Murdoch Children's Research Institute, Melbourne, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Melbourne, Australia.
Kerr PG; Department of Nephrology, Monash Medical Centre, Melbourne, Australia.; School of Clinical Sciences, Monash University, Melbourne, Australia.
Gaff C; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Pediatrics, Faculty of Medicine Dentistry & Health Sciences, The University of Melbourne, Melbourne, Australia.
Martyn M; Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia.
Whitlam J; Department of Nephrology, Austin Health, Melbourne, Australia.
Creighton B; Cancer Genetics and Genomics Program, Peter MacCallum Cancer Centre, Melbourne, Australia.
Donaldson E; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.
Hunter M; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Pediatrics, Monash University, Melbourne, Australia.
Jarmolowicz A; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.
Johnstone L; Department of Pediatrics, Monash University, Melbourne, Australia.; Department of Nephrology, Monash Children's Hospital, Melbourne, Australia.
Krzesinski E; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Pediatrics, Monash University, Melbourne, Australia.
Lunke S; Victorian Clinical Genetics Services, Melbourne, Australia.
Lynch E; Melbourne Genomics Health Alliance, Melbourne, Australia.
Nicholls K; Department of Nephrology, Melbourne Health, Melbourne, Australia.
Patel C; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Prawer Y; Monash Genetics, Monash Health, Melbourne, Australia.
Ryan J; Department of Nephrology, Monash Medical Centre, Melbourne, Australia.; School of Clinical Sciences, Monash University, Melbourne, Australia.
See EJ; Department of Medicine, University of Melbourne, Melbourne, Australia.
Talbot A; Department of Nephrology, Melbourne Health, Melbourne, Australia.
Trainer A; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, University of Melbourne, Melbourne, Australia.
Tytherleigh R; Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia.
Valente G; Clinical Genetics Service, Austin Health, Melbourne, Australia.
Wallis M; Clinical Genetics Service, Austin Health, Melbourne, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
Wardrop L; Murdoch Children's Research Institute, Melbourne, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.
West KH; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.
White SM; Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Melbourne, Australia.
Wilkins E; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Melbourne, Australia.
Mallett AJ; Murdoch Children's Research Institute, Melbourne, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.; Kidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia.; Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Australia.
Quinlan C; Murdoch Children's Research Institute, Melbourne, Australia. .; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia. .; Department of Pediatrics, University of Melbourne, Melbourne, Australia. .; Department of Pediatric Nephrology, Royal Children's Hospital, Melbourne, Australia. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 183-191. Date of Electronic Publication: 2020 Sep 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Exome*
Kidney Diseases*/diagnosis
Kidney Diseases*/genetics
Adult ; Australia ; Child ; Genetic Testing ; Humans ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Autorzy :
Madhuri V; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Selina A; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Loganathan L; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Kumar A; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Kumar V; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Raymond R; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Ramesh S; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Vincy N; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
Joel G; Paediatric Orthopaedic, Christian Medical College, Vellore, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, India.
James D; Paediatric Orthopaedic, Christian Medical College, Vellore, India.
Kandagaddala M; Radiology Department, Christian Medical College, Vellore, India.
B A; Biostatistics Department, Christian Medical College, Vellore, India.
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Źródło :
Annals of human genetics [Ann Hum Genet] 2021 Jan; Vol. 85 (1), pp. 37-46. Date of Electronic Publication: 2020 Aug 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Exome*
Osteogenesis Imperfecta/*genetics
Child, Preschool ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Genes, Recessive ; Genetic Association Studies ; Humans ; India ; Infant ; Male ; Osteogenesis Imperfecta/classification ; Phenotype ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.
Autorzy :
Gumus E; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.; Department of Medical Genetics, Faculty of Medicine, University of Mugla Sitki Kocman, Mugla, Turkey.
Tuncez E; Clinic of Medical Genetics, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey.
Oz O; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.
Saka Guvenc M; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
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Źródło :
Annals of human genetics [Ann Hum Genet] 2021 Jan; Vol. 85 (1), pp. 27-36. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*
Bardet-Biedl Syndrome/*genetics
Adolescent ; Bardet-Biedl Syndrome/diagnosis ; Child ; Child, Preschool ; Cohort Studies ; Consanguinity ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Infant ; Male ; Turkey ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Autorzy :
Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. .; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. .; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. .; Felsenstein Medical Research Center, Petach Tikva, Israel. .
Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Goldberg Y; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA.
Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY, USA.
Sukenik-Halevy R; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Maya I; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Magal N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Hagari O; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Azulay N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Lidzbarsky GA; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 215-221. Date of Electronic Publication: 2020 Aug 17.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*/genetics
Child ; Genotype ; Humans ; Pedigree ; Phenotype ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Impact of integrated translational research on clinical exome sequencing.
Autorzy :
Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. .
Cousin MA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Pinto E Vairo F; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Morales-Rosado JA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Macke EL; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Jenkinson WG; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Ferrer A; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers LE; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Olson RJ; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Oliver GR; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Sigafoos AN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Schwab TL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Urrutia RA; Division of Research, Department of Surgery and the Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.
Gupta A; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Blackburn PR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Boczek NJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Prochnow CA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Lowy RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Mulvihill LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Aoudia SL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Kruisselbrink TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Hager MM; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Rust LM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Summer Bolster JM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Beck SA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.
Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Niu Z; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ferber MJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Clark KJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Pichurin PN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Deyle DR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Morava-Kozicz E; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Gavrilova RH; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Dhamija R; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.
Lanpher BC; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Babovic-Vuksanovic D; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Farrugia G; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Schimmenti LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Stewart AK; Princess Margaret Cancer Centre, Toronto, ON, Canada.
Lazaridis KN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 498-507. Date of Electronic Publication: 2020 Nov 04.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*/genetics
Undiagnosed Diseases*
Genetic Testing ; Humans ; Phenotype ; Translational Medical Research ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Autorzy :
Park J; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lucas AM; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Zhang X; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Chaudhary K; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Cho JH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nadkarni G; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Dobbyn A; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Chittoor G; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Josyula NS; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Katz N; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Breeyear JH; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Ahmadmehrabi S; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Drivas TG; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Chavali VRM; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Fasolino M; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Epigenetics Institute, University of Pennsylvania, Philadelphia, PA, USA.
Sawada H; Saha Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.
Daugherty A; Saha Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.; Department of Physiology, University of Kentucky, Lexington, KY, USA.
Li Y; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, TX, USA.
Zhang C; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, TX, USA.
Bradford Y; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Weaver J; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Verma A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Judy RL; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Kember RL; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Reid JG; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Ferreira MAR; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Li AH; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
LeMaire SA; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, TX, USA.
Shen YH; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, TX, USA.
Naji A; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Kaestner KH; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Epigenetics Institute, University of Pennsylvania, Philadelphia, PA, USA.
Vahedi G; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Epigenetics Institute, University of Pennsylvania, Philadelphia, PA, USA.
Edwards TL; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Chen J; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Damrauer SM; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Justice AE; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Do R; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .
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Źródło :
Nature medicine [Nat Med] 2021 Jan; Vol. 27 (1), pp. 66-72. Date of Electronic Publication: 2021 Jan 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Electronic Health Records*
Exome*
Genotype*
Phenotype*
Aged ; Computational Biology ; Female ; Genome-Wide Association Study ; Humans ; Male ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.
Autorzy :
Khan AO; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Stapley RJ; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Pike JA; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Wijesinghe SN; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Reyat JS; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Almazni I; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Machlus KR; Hematology Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Morgan NV; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
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Corporate Authors :
UK GAPP Study Group
Źródło :
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Jan; Vol. 19 (1), pp. 262-268. Date of Electronic Publication: 2020 Oct 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Blood Platelets*
Exome*
Animals ; Hemorrhage/genetics ; Humans ; Mice ; Mutation ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Exome of Radiation-induced Rat Mammary Carcinoma Shows Copy-number Losses and Mutations in Human-relevant Cancer Genes.
Autorzy :
Moriyama H; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.; Present address: Konica Minolta, Inc., Tokyo, Japan.
Daino K; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan; .
Ishikawa A; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.
Imaoka T; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.
Nishimura M; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.
Nishimura Y; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Present address: Institute for Environmental Sciences, Aomori, Japan.
Takabatake M; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.; Present address: Georgetown University, Washington, DC, U.S.A.
Morioka T; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.
Inoue K; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.
Fukushi M; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.
Shimada Y; Present address: Institute for Environmental Sciences, Aomori, Japan.; Executive Director, QST, Chiba, Japan.
Kakinuma S; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.
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Źródło :
Anticancer research [Anticancer Res] 2021 Jan; Vol. 41 (1), pp. 55-70.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*
Radiation, Ionizing*
DNA Copy Number Variations/*radiation effects
Mammary Neoplasms, Experimental/*genetics
Mutation/*radiation effects
Animals ; Biopsy ; Computational Biology/methods ; DNA Methylation ; DNA Mutational Analysis ; Female ; Humans ; INDEL Mutation ; Immunohistochemistry ; Mammary Neoplasms, Experimental/pathology ; Mammary Neoplasms, Experimental/radiotherapy ; Neoplasms, Radiation-Induced/genetics ; Neoplasms, Radiation-Induced/pathology ; Rats ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Autorzy :
Pratt M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada. .
Garritty C; Knowledge Synthesis Group, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Thuku M; Knowledge Synthesis Group, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Esmaeilisaraji L; Knowledge Synthesis Group, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Hamel C; Knowledge Synthesis Group, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Millar K; Better Outcomes Registry Network (BORN) Ontario, Ottawa, ON, Canada.
Skidmore B; Independent consultant, Ottawa, ON, Canada.
Dougan S; Better Outcomes Registry Network (BORN) Ontario, Ottawa, ON, Canada.
Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Better Outcomes Registry Network (BORN) Ontario, Ottawa, ON, Canada.; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Dec; Vol. 22 (12), pp. 1925-1934. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Exome*/genetics
Genetic Testing*
Female ; Fetus ; Humans ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Autorzy :
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Liu Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xie NG; Department of Bioengineering, Rice University, Houston, TX, USA.
Wu LR; Department of Bioengineering, Rice University, Houston, TX, USA.
Yan YH; NuProbe USA, Inc, Houston, TX, USA.
Cao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Wilson TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Chen E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.
Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.
Zhang DY; Department of Bioengineering, Rice University, Houston, TX, USA.
Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Department of Statistics, Rice University, Houston, TX, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .; Baylor Genetics, Houston, TX, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Nov; Vol. 22 (11), pp. 1768-1776. Date of Electronic Publication: 2020 Jul 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Exome*/genetics
Mosaicism*
High-Throughput Nucleotide Sequencing ; Humans ; Parents ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Whole exome profiling and mutational analysis of Ocular Surface Squamous Neoplasia.
Autorzy :
Ramos-Betancourt N; Department of Cornea and Refractive Surgery, Asociación para Evitar la Ceguera, IAP, Mexico City, Mexico. Electronic address: .
Field MG; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Davila-Alquisiras JH; Department of Cornea and Refractive Surgery, Asociación para Evitar la Ceguera, IAP, Mexico City, Mexico.
Karp CL; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Hernández-Zimbrón LF; Research Department, Asociación para Evitar la Ceguera en México, IAP, Mexico City, Mexico; Biochemistry Department, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.
García-Vázquez R; Department of Cornea and Refractive Surgery, Asociación para Evitar la Ceguera, IAP, Mexico City, Mexico.
Vazquez-Romo KA; Department of Cornea and Refractive Surgery, Asociación para Evitar la Ceguera, IAP, Mexico City, Mexico.
Wang G; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Fromow-Guerra J; Research Department, Asociación para Evitar la Ceguera en México, IAP, Mexico City, Mexico.
Hernandez-Quintela E; Department of Cornea and Refractive Surgery, Asociación para Evitar la Ceguera, IAP, Mexico City, Mexico; Research Department, Asociación para Evitar la Ceguera en México, IAP, Mexico City, Mexico.
Galor A; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Ophthalmology, Miami Veteran Affairs Medical Center, Miami, FL, USA.
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Źródło :
The ocular surface [Ocul Surf] 2020 Oct; Vol. 18 (4), pp. 627-632. Date of Electronic Publication: 2020 Jul 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Carcinoma, Squamous Cell*/genetics
Exome*
Aged ; Aged, 80 and over ; DNA Mutational Analysis ; Eye Neoplasms ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Prospective Studies ; Ultraviolet Rays ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply.
Autorzy :
Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Jones KL; Department of Pediatrics, University of California, San Diego.
Carey JC; Department of Pediatrics, University of Utah Health, Salt Lake City.
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Źródło :
JAMA [JAMA] 2020 Dec 15; Vol. 324 (23), pp. 2445-2446.
Typ publikacji :
Letter; Comment
MeSH Terms :
Exome*
High-Throughput Nucleotide Sequencing*
Whole Exome Sequencing
Opinia redakcyjna
Tytuł :
Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis.
Autorzy :
Doreille A; Assistance Publique Hôpitaux de Paris, Hôpital Tenon, Paris, France.
Raymond L; Laboratoire Biomnis, Lyon, France.
Mesnard L; Assistance Publique Hôpitaux de Paris, Hôpital Tenon, Paris, France.
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Źródło :
JAMA [JAMA] 2020 Dec 15; Vol. 324 (23), pp. 2445.
Typ publikacji :
Letter; Comment
MeSH Terms :
Exome*
High-Throughput Nucleotide Sequencing*
Whole Exome Sequencing
Opinia redakcyjna
Tytuł :
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.
Autorzy :
Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. .
Pitel B; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Hagen CE; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Rowsey RA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Baughn LB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Thorland EC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Kearney HM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Dec; Vol. 22 (12), pp. 2120-2124. Date of Electronic Publication: 2020 Aug 21.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*/genetics
Exome*
Microarray Analysis ; Retrospective Studies ; Whole Exome Sequencing
Czasopismo naukowe

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