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1
المؤلفون: Ana S.A. Cohen, Emily G. Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan M. Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra L. Engleman, Erin D. Fecske, Cynthia Fieser, Keely Fitzgerald, Emily A. Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne M. Herd, Susan S. Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin Lawson, Jean-Baptiste Le Pichon, James Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M.B. Puckett, Julio F. Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie R. Sullivan, Brooke R. Sweeney, Jade B. Tam-Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen
المصدر: Genetics in Medicine. 24:1336-1348
مصطلحات موضوعية: Genome, Rare Diseases, High-Throughput Nucleotide Sequencing, Humans, Genomics, Sequence Analysis, DNA, Child, Genetics (clinical), Pedigree
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المؤلفون: Tomi Pastinen, Emily A. Hurley, Isabelle Thiffault, Carol J Saunders, Kathy Goggin, Courtney Berrios, Emily G. Farrow, Laurel K. Willig
المصدر: Genetics in Medicine. 23:2289-2299
مصطلحات موضوعية: medicine.medical_specialty, Practice setting, medicine.diagnostic_test, business.industry, Interpretation (philosophy), Genetic counseling, Test (assessment), Chart, Family medicine, medicine, In patient, Clinical care, business, Genetics (clinical), Genetic testing
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المؤلفون: Jill Jacobson, Keith A Coffman, Susan S Hughes, Caitlin Lawson, Erin D Fecske, Ahmed T Abdelmoity, Thuy Tien T Dang, Annapoorna Nair, Janda L Jenkins, Kendra L Engleman, Daniel A Louiselle, Orion Buske, Nigel Price, Dihong Zhou, Michael Lypka, Courtney D Berrios, Laura Mb Puckett, Kelsee Halpin, Ana Sa Cohen, Nikita Raje, Aaron M Wenger, Emily G Farrow, Keely Fitzgerald, Mohammed Ilyas, Kailash Pawar, Joseph T Alaimo, Jennifer L Gannon, Laurel K Willig, Jean-Baptiste Le Pichon, Shivarajan M Amudhavalli, Christopher M Oermann, Rebecca L Biswell, Shelby H Neal, Lalit Bansal, Elizabeth Shaffer, Brittany D McDonald, Bonnie R Sullivan, Isabelle Thiffault, Christine Lambert, Ashley M Cooper, Suzanne M Herd, Holly Welsh, Julio F Quezada, Carol J Saunders, Caitlin Schwager, Brian S Harvey, Adam M Walter, Donna M Pacicca, Jennifer Kussmann, Rose N Gelineau-Morel, Margaret Gibson, Elin Grundberg, Shao Jiang, Scott T Younger, Steve Leeder, Richard M Schwend, John T Anderson, Venkatesh Sampath, Jonas Korlach, Bryce A Heese, Meghan E Strenk, Neil Miller, Vicki C Little, Ann Modrcin, Brooke R Sweeney, Randi N Gadea, Nyshele L Posey, Emily A Fleming, Wendy Hein, Cynthia Fieser, Eric T Rush, Laura A Cross, Craig Smail, William J Rowell, Kathryn Keeler, Jeffrey Goldstein, Tricia N Zion, Warren A. Cheung, Sarah Soden, Lauren Bartik, Bradley Belden, Thomas Curran, Pawel Buczkowicz, Shreyasee Chakraborty, Yun Yan, Tomi Pastinen, Primo Baybayan, Mary M Elfrink, Jeffrey J Johnston, Jade B Tam-Williams
مصطلحات موضوعية: Unknown Significance, Pedigree chart, Computational biology, Allele, Biology, Gene, Genome, Exome, DNA sequencing, Rare disease
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المؤلفون: Bradley A. Warady, Yichun Yu, Laurel K. Willig, Hongying Dai, Keia R. Sanderson
المصدر: Pediatric Nephrology. 34:155-162
مصطلحات موضوعية: Male, Nephrology, Pediatrics, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Urinary system, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Article, Peritoneal dialysis, 03 medical and health sciences, 0302 clinical medicine, Cause of Death, Internal medicine, medicine, Humans, Registries, education, Dialysis, Retrospective Studies, Cystic kidney, education.field_of_study, business.industry, Mortality rate, Age Factors, Infant, Newborn, Infant, medicine.disease, United States, Survival Rate, Treatment Outcome, Pediatrics, Perinatology and Child Health, Kidney Failure, Chronic, Female, business, Peritoneal Dialysis, Follow-Up Studies, Kidney disease
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المؤلفون: John Gatti, Carol J Saunders, Anna Egan, Jill D. Jacobson, Julie Strickland, Emily G. Farrow, Laurel K. Willig, Leslie L. Heckert
المصدر: Endocrinology. 161
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Microarray, Individual gene, Disorders of Sex Development, 030209 endocrinology & metabolism, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Exome Sequencing, Gene duplication, medicine, Humans, Medical diagnosis, Child, Genetic testing, Disorder of Sex Development, 46,XY, medicine.diagnostic_test, business.industry, Sexual Development, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Karyotype, Sex reversal, 030104 developmental biology, Child, Preschool, Karyotyping, Female, business, Stepwise approach
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المؤلفون: Raymond Caylor, Carol J Saunders, Isabelle Thiffault, Kimberly A. Horii, Emily Fleming, Amy J. Nopper, Shivarajan M. Amudhavalli, Mohammed Ilyas, Holly I Welsh, Lauren Grote, Janda L Jenkins, Ahmed Abdelmoity, Emily G. Farrow, Sarah E Soden, Laurel K. Willig, Kendra Engleman
المصدر: Neurogenetics. 19(3)
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Cellular and Molecular Neuroscience, Tuberous sclerosis, Epilepsy, Young Adult, 0302 clinical medicine, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Exome Sequencing, Genetics, medicine, Humans, Family, Pakistan, Child, Genetics (clinical), Exome sequencing, Genetic testing, Incidental Findings, medicine.diagnostic_test, business.industry, Infant, Middle Aged, medicine.disease, Penetrance, Epileptic spasms, 030104 developmental biology, Phenotype, Asymptomatic Diseases, Female, business, 030217 neurology & neurosurgery
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المصدر: Seminars in Perinatology. 39:623-631
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Palliative care, Critical Illness, Genetic counseling, Population, Genetic Counseling, Genome-wide association study, Genomics, Disease, Article, Pregnancy, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Intensive care medicine, education, Genetic testing, education.field_of_study, medicine.diagnostic_test, Genome, Human, business.industry, Genetic Diseases, Inborn, Infant, Newborn, Infant, Obstetrics and Gynecology, Sequence Analysis, DNA, Precision medicine, Pediatrics, Perinatology and Child Health, Intensive Care, Neonatal, Female, Neonatology, business, Genome-Wide Association Study
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المؤلفون: Laurel K. Willig
المصدر: Journal of Pediatric Genetics. :002-014
مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Genomics, Context (language use), Disease, Biology, Bioinformatics, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Pediatric nephrology, Disease manifestation, Genetics (clinical), Omics technologies
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المؤلفون: Lee Zellmer, Josh E Petrikin, Anne Holmes, David Dimmock, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, Carol J. Saunders, Emily G. Farrow, Nathaly M. Sweeney, Isabelle Thiffault, Suzanne Herd, Stephen F. Kingsmore, Steven J. Leeder, Neil A. Miller, Julie A. Cakici, Laurel K. Willig, Michelle M. Clark
المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, lcsh:Medicine, Disease, Article, law.invention, 03 medical and health sciences, Randomized controlled trial, law, Intensive care, Genetics, Medicine, Medical diagnosis, Molecular Biology, Genetics (clinical), Genetic testing, Whole genome sequencing, Intention-to-treat analysis, medicine.diagnostic_test, business.industry, lcsh:R, 3. Good health, lcsh:Genetics, 030104 developmental biology, Etiology, business
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المؤلفون: Janda L Jenkins, Ahmed Abdelmoity, Laurel K. Willig, Lauren Grote, Amy J. Nopper, Emily G. Farrow, Emily Fleming, Holly I Welsh, Sarah E Soden, Isabelle Thiffault, Kimberly A. Horii, Carol J Saunders, Shivarajan M. Amudhavalli, Kendra Engleman, Mohammed Ilyas, Raymond Caylor
المصدر: neurogenetics. 19:261-262
مصطلحات موضوعية: business.industry, Mistake, Computational biology, medicine.disease, Human genetics, Cellular and Molecular Neuroscience, Tuberous sclerosis, Genetics, Medicine, business, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Exome sequencing, Subclinical infection
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المؤلفون: Pui-Yan Kwok, Joshua E. Petrikin, Galen Joseph, Cynthia M. Powell, Barbara A. Koenig, Joseph T. Shieh, Anastasia L. Wise, Megan A. Lewis, Robert Currier, Flavia Chen, Julie Harris-Wai, Sean D. Mooney, Richard B. Parad, Timothy W. Yu, Michael S. Watson, Myra I. Roche, Tiina K. Urv, Neil Risch, Bradford C. Powell, Robert C. Green, Ozge Ceyhan-Birsoy, Laurel K. Willig, Ingrid A. Holm, Stephen F. Kingsmore, Amy L. McGuire, Heidi L. Rehm, Julie A. Cakici, Donald B. Bailey, Steven J. Leeder, Stacey Pereira, Alan H. Beggs, Narayanan Veeraraghavan, Dmitry Dukhovny, Steven E. Brenner, Amy Brower, Jennifer M. Puck, Pankaj B. Agrawal, John D. Lantos, Laura V. Milko, Jonathan S. Berg, Brenda Iglesias, Kee Chan
المصدر: Pediatrics, vol 139, iss 2
Berg, JS; Agrawal, PB; Bailey, DB; Beggs, AH; Brenner, SE; Brower, AM; et al.(2017). Newborn sequencing in genomic medicine and public health. Pediatrics, 139(2). doi: 10.1542/peds.2016-2252. UCSF: Retrieved from: http://www.escholarship.org/uc/item/68b8k0r9مصطلحات موضوعية: 0301 basic medicine, Pathology, Genetic Carrier Screening, Genome-wide association study, 030105 genetics & heredity, Pediatrics, Medical and Health Sciences, 0302 clinical medicine, Neonatal, Exome, Prospective Studies, Pediatric, screening and diagnosis, medicine.diagnostic_test, Detection, Intensive Care Units, Public Health, Sequence Analysis, Biotechnology, medicine.medical_specialty, Genetic Research, Pediatric Research Initiative, MEDLINE, Monogenic disease, 03 medical and health sciences, Special Article, Neonatal Screening, Predictive Value of Tests, 030225 pediatrics, Intensive Care Units, Neonatal, medicine, Genetics, Genomic medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, business.industry, Genomic sequencing, Public health, Prevention, Human Genome, Psychology and Cognitive Sciences, Infant, Newborn, Infant, Sequence Analysis, DNA, DNA, Newborn, United States, 4.1 Discovery and preclinical testing of markers and technologies, Good Health and Well Being, Pediatrics, Perinatology and Child Health, Genomic Structural Variation, Generic health relevance, business, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Stephen F. Kingsmore, John Lesko, Julie A. Cakici, Laurel K. Willig, Kali Detherage, Aaron Noll, Emily G. Farrow, Byunggil Yoo, Angela Newton, Linda D. Cooley, Josh E Petrikin, Laurie D. Smith, Isabelle Thiffault, Neil A. Miller, Stephanie Fiedler, Carol J Saunders
المصدر: NPJ Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Disease gene, business.industry, Haplotype, Breakpoint, Computational biology, Genome, Article, Optimal management, 3. Good health, Transposition (music), 03 medical and health sciences, Exon, 030104 developmental biology, Genetics, Medicine, Deletion mapping, business, Molecular Biology, Genetics (clinical)
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13
المؤلفون: Julie A. Cakici, Darrell L. Dinwiddie, Laurel K. Willig, Margaret Gibson, J. Steven Leeder, Josh E Petrikin, Stephen F. Kingsmore, Amanda K. Riffel, Andrea Gaedigk, Suzanne Herd, Greyson P Twist, Emily G. Farrow, Deendayal Dinakarpandian, Sarah E Soden, Neil A. Miller
المصدر: NPJ Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, 0303 health sciences, Haplotype, Locus (genetics), Biology, Genome, Article, 3. Good health, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 030104 developmental biology, 030220 oncology & carcinogenesis, Genetic variation, Gene duplication, symbols, Corrigendum, Molecular Biology, Gene, Genotyping, Genetics (clinical), 030304 developmental biology
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المؤلفون: Julie A. Cakici, Laurel K. Willig, Carol J Saunders, Adam Walter, Severine Catreux, Laurie D. Smith, Isabelle Thiffault, Lisa Ann Krivohlavek, Josh E Petrikin, Mike Ruehle, Suzanne Herd, Darrell L. Dinwiddie, Margaret Gibson, Tyler Marrs, Stephen F. Kingsmore, Sarah E Soden, Shane Corder, Byunggil Yoo, Greyson P Twist, Emily G. Farrow, Neil A. Miller
المصدر: Genome Medicine
مصطلحات موضوعية: Whole genome sequencing, medicine.medical_specialty, Diagnostic Tests, Routine, Genome, Human, Genetic Diseases, Inborn, MEDLINE, Method, Sequence Analysis, DNA, Disease, Biology, Bioinformatics, Genome, Human genetics, 3. Good health, Acute care, Genotype, Genetics, medicine, Humans, Molecular Medicine, Genetics(clinical), Human genome, Molecular Biology, Genetics (clinical)
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المؤلفون: Sarah L Tsai, Carol J Saunders, Julie A. Cakici, Greyson P Twist, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Shannon L. Carpenter, Howard W. Kilbride, Ryan McDonough, Mitchell Creed, Ryan T. Fischer, Josh E Petrikin, J Allyson Hays, Jamie L Rosterman, Aaron Noll, Mark A. Clements, Laurie D. Smith, Sarah E Soden, Stephen F. Kingsmore, Suzanne Herd, Lee Zellmer, Neil A. Miller, Patria M Alba
المصدر: The Lancet. Respiratory medicine. 3(5)
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Male, Pediatrics, medicine.medical_specialty, Palliative care, Critical Illness, Genome-wide association study, Disease, Pneumonia, Aspiration, Article, Intensive Care Units, Neonatal, Medicine, Humans, Medical diagnosis, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Precision medicine, Infant mortality, Female, business, Genome-Wide Association Study
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المؤلفون: Kevin S. Harrod, Robert H. Glew, Jennifer C. van Velkinburgh, Darrell L. Dinwiddie, Eric S. Mayer, Charles B. Cairns, Raymond J. Langley, Mohan L. Sopori, Seth W. Glickman, Laurel K. Willig, Neil A. Miller, Jonathan E. McDunn, Stephen F. Kingsmore, Emanuel P. Rivers, Vance G. Fowler, Ephraim L. Tsalik, Christopher W. Woods, Robert P. Mohney, Brandon J. Rice, Anja Kathrin Jaehne, Ronny M. Otero
المصدر: Kidney international
مصطلحات موضوعية: Male, Proteomics, Time Factors, medicine.medical_treatment, 030232 urology & nephrology, Kidney, Kidney Function Tests, Transcriptome, sepsis, 0302 clinical medicine, Aged, 80 and over, 0303 health sciences, hemodialysis, Systems Biology, Acute kidney injury, Blood Proteins, Acute Kidney Injury, Middle Aged, Systemic Inflammatory Response Syndrome, medicine.anatomical_structure, Treatment Outcome, Nephrology, Female, Hemodialysis, Adult, medicine.medical_specialty, Critical Illness, Renal function, Biology, Article, 03 medical and health sciences, Renal Dialysis, Internal medicine, medicine, Metabolome, Humans, Metabolomics, RNA, Messenger, 030304 developmental biology, Aged, Gene Expression Profiling, Kidney metabolism, medicine.disease, United States, Systemic inflammatory response syndrome, Systems Integration, Endocrinology, Gene Expression Regulation, gene expression, Biomarkers, chronic kidney disease
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المؤلفون: Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
المصدر: Science Translational Medicine. 6
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Developmental Disabilities, DNA Mutational Analysis, Newly diagnosed, Biology, Diagnostic evaluation, Bioinformatics, Article, DNA sequencing, Ambulatory care, medicine, Humans, Exome, Genetic Predisposition to Disease, Symptom onset, Medical diagnosis, Clinical care, Child, Genome, Base Sequence, Genome, Human, Infant, Health Care Costs, Sequence Analysis, DNA, General Medicine, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, Mutation, Female
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المؤلفون: Joshua E. Petrikin, Laurie D. Smith, Julie A. Cakici, Laurel K. Willig, Stephen F. Kingsmore
المصدر: Pediatrics. 137:494A-494A
مصطلحات موضوعية: Cancer genome sequencing, Whole genome sequencing, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Computational biology, business, Exome sequencing
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المؤلفون: Laurel K. Willig, Stephen F. Kingsmore, Laurie D. Smith
المصدر: Cold Spring Harbor Perspectives in Medicine. 6:a023168
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Critical Illness, DNA Mutational Analysis, Genome-wide association study, Prenatal diagnosis, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Prenatal Diagnosis, 030225 pediatrics, Intensive care, Health care, medicine, Humans, Exome, Genetic Testing, Intensive care medicine, Exome sequencing, Genetic testing, medicine.diagnostic_test, Genome, Human, business.industry, Genetic Diseases, Inborn, Infant, Newborn, Human genetics, Early Diagnosis, 030104 developmental biology, Mutation, business, Perspectives, Forecasting, Genome-Wide Association Study
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المؤلفون: Erin M. Guest, Laurel K. Willig, Josh E Petrikin, Stephen F. Kingsmore
المصدر: Genome Medicine
مصطلحات موضوعية: Opinion, medicine.medical_specialty, Decision support system, Bioinformatics, Genome, 03 medical and health sciences, 0302 clinical medicine, Intelligence amplification, medicine, Genetics, Genetics(clinical), Intensive care medicine, Exome, Molecular Biology, Genetics (clinical), Reimbursement, 030304 developmental biology, 0303 health sciences, business.industry, Precision medicine, Human genetics, 3. Good health, 030220 oncology & carcinogenesis, Molecular Medicine, Unavailability, business