المؤلفون: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, Investigators, the RCIGM, Bainbridge, Matthew N, Barea, Jaime, Batalov, Sergey, Bezares, Zaira, Braun, Joshua JA, Del Campo, Miguel, Carroll, Jeanne, Cohenmeyer, Casey, Coufal, Nicole G, Diaz, Carlos, Ding, Yan, Ellsworth, Katarzyna, Evans, Marva, Feigenbaum, Annette, Friedman, Jennifer, Gleeson, Joe, Hansen, Christian, Honold, Jose, James, Kiely, Jones, Marilyn C, Kimball, Amy, Knight, Gail, Van Der Kraan, Lucitia, Lane, Brian, Le, Jennie, Leibel, Sandra, Lenberg, Jerica, Mashburn, Dana, Moyer, Laurel, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Orendain, Daniken, Oriol, Albert, Ortiz-Arechiga, Maria, Prince, Lance, Rego, Seema, Reyes, Iris, Sanford, Erica, Sauer, Charles, Schwanemann, Leila, Speziale, Mark, Suttner, Denise, Sweeney, Nathaly, Song, Richard, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wong, Terence, Wright, Meredith S, Yamada, Catherine

المصدر: American Journal of Human Genetics. 107(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Biotechnology, Infectious Diseases, Pediatric, Human Genome, Good Health and Well Being, Chromosome Mapping, Clinical Decision-Making, Critical Illness, Disease Management, Female, Genetic Diseases, Inborn, Genetic Testing, Genome, Human, Humans, Infant, Infant, Newborn, Intensive Care Units, Neonatal, Logistic Models, Male, Prospective Studies, Time Factors, Whole Genome Sequencing, RCIGM Investigators, NSIGHT2, clinical utility, diagnostic testing outcomes, healthcare cost-benefit analysis, neonatal intensive care unit, pediatric intensive care unit, rapid whole-exome sequencing, rapid whole-genome sequencing, ultra-rapid whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/289757jtTest
https://escholarship.org/content/qt289757jt/qt289757jt.pdfTest

المؤلفون: Sanford, Erica F, Clark, Michelle M, Farnaes, Lauge, Williams, Matthew R, Perry, James C, Ingulli, Elizabeth G, Sweeney, Nathaly M, Doshi, Ami, Gold, Jeffrey J, Briggs, Benjamin, Bainbridge, Matthew N, Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A, Dimmock, David P, Kingsmore, Stephen F, Coufal, Nicole G

المصدر: Pediatric Critical Care Medicine. 20(11)

مصطلحات موضوعية: Human Genome, Pediatric Research Initiative, Genetics, Clinical Research, Patient Safety, Pediatric, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Good Health and Well Being, Adolescent, Child, Child, Preschool, Critical Illness, Female, Genetic Diseases, Inborn, Humans, Infant, Intensive Care Units, Pediatric, Male, Precision Medicine, Retrospective Studies, Whole Genome Sequencing, clinical utility, diagnostic utility, genomics, pediatric critical care, precision medicine, whole genome sequencing, RCIGM Investigators, Nursing, Paediatrics and Reproductive Medicine, Pediatrics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7165w94qTest

المؤلفون: Kingsmore, Stephen F, Cakici, Julie A, Clark, Michelle M, Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N, Carroll, Jeanne, Caylor, Sara A, Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I, Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S, Dimmock, David, Investigators, the RCIGM, Bezares, Zaira, Bloss, Cinnamon, Braun, Joshua JA, Diaz, Carlos, Mashburn, Dana, Tamang, Dorjee, Orendain, Daniken, Friedman, Jenni, Gleeson, Joe, Barea, Jaime, Chiang, George, Cohenmeyer, Casey, Coufal, Nicole G, Evans, Marva, Honold, Jose, Hovey, Raymond L, Kimball, Amy, Lane, Brian, Le, Crystal, Le, Jennie, Leibel, Sandra, Moyer, Laurel, Mulrooney, Patrick, Oh, Daeheon, Ordonez, Paulina, Oriol, Albert, Ortiz-Arechiga, Maria, Puckett, Laura, Speziale, Mark, Suttner, Denise, Van Der Kraan, Lucitia, Knight, Gail, Sauer, Charles, Song, Richard, White, Sarah, Wise, Audra, Yamada, Catherine

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Human Genome, Pediatric, Clinical Research, Genetics, Clinical Trials and Supportive Activities, Good Health and Well Being, Genetic Testing, Humans, Infant, Infant, Newborn, Exome Sequencing, Whole Genome Sequencing, RCIGM Investigators, diagnosis, genetic disease, genomic medicine, infant, intensive care unit, precision medicine, ultra-rapid whole-genome sequencing, whole-exome sequencing, whole-genome sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9h05k7vhTest

المؤلفون: Briggs, Benjamin, James, Kiely N, Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F, RCIGM Investigators

المصدر: Cold Spring Harbor molecular case studies. 4(6)

مصطلحات موضوعية: RCIGM Investigators, Humans, Intracranial Hemorrhages, Factor XIII Deficiency, Hematoma, Postoperative Hemorrhage, Factor XIII, Blood Coagulation Tests, Infant, Male, Stroke, Whole Genome Sequencing, KRIT1 Protein, intracranial hemorrhage, stroke-like episodes

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4x50v203Test

المؤلفون: Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F, Investigators, on behalf of the RCIGM

المصدر: Molecular Case Studies. 4(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Autoimmune Disease, Pediatric, Rare Diseases, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Alleles, Child, Preschool, Chromosome Mapping, Female, Genome-Wide Association Study, Genotype, Humans, Mutation, Phenotype, Polyendocrinopathies, Autoimmune, Transcription Factors, Whole Genome Sequencing, RCIGM Investigators, autoimmune hypoparathyroidism, hyperphosphatemia, hypocalcemic seizures, Pharmacology and pharmaceutical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1pw3p6rvTest

المؤلفون: Sweeney, Nathaly M, Nahas, Shareef A, Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C, Dimmock, David P, Kingsmore, Stephen F, RCIGM Investigators

المصدر: Cold Spring Harbor molecular case studies. 4(3)

مصطلحات موضوعية: RCIGM Investigators, Face, Neck, Humans, Hand Deformities, Congenital, Micrognathism, Heart Defects, Congenital, Abnormalities, Multiple, Critical Illness, Genomics, Phenotype, Infant, Disease Management, Female, Genome-Wide Association Study, Delayed Diagnosis, Intellectual Disability, Hernias, Diaphragmatic, Congenital, Whole Genome Sequencing, Infections, anteverted nares, aplasia/hypoplasia of the corpus callosum, central hypotonia, congenital diaphragmatic hernia, congenital mitral stenosis, failure to thrive in infancy, frontal hirsutism, malrotation of small bowel, moderate global developmental delay, perimembranous ventricular septal defect, postductal coarctation of the aorta, recurrent respiratory infections

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/26t7f4dtTest

المؤلفون: David Dimmock, Dorjee Tamang, Sarah White, Peter Schols, Michelle M. Clark, Zaira Bezares, Richard S. Song, Sandra Leibel, Denise Suttner, Jennie Le, Charlotte A. Hobbs, Casey Cohenmeyer, Katarzyna A. Ellsworth, Brian Lane, Amber Hildreth, Lauge Farnaes, Kelly Watkins, Kiely N. James, Terence C. Wong, Cinnamon S. Bloss, Nicole G. Coufal, Laura Puckett, Mari Tokita, Lance Prince, Amy S. Kimball, Narayanan Veeraraghavan, Shareef Nahas, Cyrielle Kint, Yan Ding, Paulina Ordonez, Jaime Barea, Erica Sanford, Kristen Wigby, Daniken Orendain, Maria Ortiz-Arechiga, Meredith S. Wright, Dana Mashburn, Sara A. Caylor, Nathaly M. Sweeney, Joshua J.A. Braun, Christina Clarke, Audra Wise, Lisa Salz, Charles Sauer, Jenni Friedman, George Chiang, Jerica Lenberg, Mark Speziale, Laurel Moyer, Michele Feddock, Jeanne Carroll, Patrick Mulrooney, Raymond Hovey, Stephen F. Kingsmore, Marva Evans, Sergey Batalov, Albert Oriol, Joe Gleeson, Jose Honold, Carlos Diaz, Mary Gaughran, Julie A. Cakici, Crystal Le, Catherine Yamada, Shimul Chowdhury, Gail Knight, Matthew N. Bainbridge, Lucitia Van Der Kraan, Daeheon Oh, Iris Reyes

المصدر: American journal of human genetics, vol 105, iss 4

مصطلحات موضوعية: 0301 basic medicine, ultra-rapid whole-genome sequencing, Pediatrics, medicine.medical_specialty, diagnosis, precision medicine, RCIGM Investigators, Clinical Trials and Supportive Activities, 030105 genetics & heredity, Genome, intensive care unit, Medical and Health Sciences, Article, law.invention, 03 medical and health sciences, Randomized controlled trial, law, genetic disease, Clinical Research, Exome Sequencing, medicine, Genetics, Humans, Genetic Testing, whole-exome sequencing, Genetics (clinical), Exome sequencing, Whole genome sequencing, Pediatric, Genetics & Heredity, Whole Genome Sequencing, business.industry, Singleton, Human Genome, Infant, Newborn, Infant, Biological Sciences, Precision medicine, Newborn, Intensive care unit, 030104 developmental biology, genomic medicine, Good Health and Well Being, whole-genome sequencing, Etiology, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93db546ed65a145dd456f452b1b6a911Test
https://escholarship.org/uc/item/9h05k7vhTest

المؤلفون: Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Stephen Kingsmore, Rcigm, Investigators

المصدر: Cold Spring Harbor molecular case studies, vol 4, iss 3
BASE-Bielefeld Academic Search Engine

مصطلحات موضوعية: postductal coarctation of the aorta, Delayed Diagnosis, Critical Illness, RCIGM Investigators, Micrognathism, perimembranous ventricular septal defect, aplasia/hypoplasia of the corpus callosum, Cardiovascular, Infections, congenital diaphragmatic hernia, Congenital, Rare Diseases, Intellectual Disability, Infant Mortality, Genetics, Humans, Lung, Heart Defects, Hernias, Pediatric, anteverted nares, frontal hirsutism, congenital mitral stenosis, Whole Genome Sequencing, Infant, Disease Management, Genomics, Perinatal Period - Conditions Originating in Perinatal Period, Hand Deformities, failure to thrive in infancy, Heart Disease, Phenotype, moderate global developmental delay, Face, malrotation of small bowel, Congenital Structural Anomalies, Female, Abnormalities, Digestive Diseases, central hypotonia, Multiple, Neck, Genome-Wide Association Study, Diaphragmatic, recurrent respiratory infections

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ba3e83feb061a26c13b55e080aafe026Test
https://escholarship.org/uc/item/26t7f4dtTest