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1
المؤلفون: Marie‐France Gagnon, Holly E. Berg, Reid G. Meyer, William R. Sukov, Daniel L. Van Dyke, Robert B. Jenkins, Patricia T. Greipp, Erik C. Thorland, Nicole L. Hoppman, Xinjie Xu, Linda B. Baughn, Kaaren K. Reichard, Rhett P. Ketterling, Jess F. Peterson
المصدر: Genes, Chromosomes and Cancer. 61:629-634
مصطلحات موضوعية: Cancer Research, Genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::333d9a83e39d0b0ffd8f22d2f8da26daTest
https://doi.org/10.1002/gcc.23070Test -
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المؤلفون: Wei Shen, Heidi L. Sellers, Lauren A. Choate, Mariam I. Stein, Pratyush P. Tandale, Jiayu Tan, Rohit Setlem, Yuta Sakai, Numrah Fadra, Carlos Sosa, Shawn P. McClelland, Sarah S. Barnett, Kristen J. Rasmussen, Cassandra K. Runke, Stephanie A. Smoley, Lori S. Tillmans, Cherisse A. Marcou, Ross A. Rowsey, Erik C. Thorland, Nicole J. Boczek, Hutton M. Kearney
المصدر: The Journal of Molecular Diagnostics.
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d4701154a74f43b20056a60394394fe8Test
https://doi.org/10.1016/j.jmoldx.2023.04.001Test -
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المؤلفون: Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
المصدر: Genetics in Medicine. 24:255-261
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f0e9c7eb14eb13d283176826af2fdc19Test
https://doi.org/10.1016/j.gim.2021.10.004Test -
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المؤلفون: Gordana, Raca, Caroline, Astbury, Andrea, Behlmann, Mauricio J, De Castro, Scott E, Hickey, Ender, Karaca, Chelsea, Lowther, Erin Rooney, Riggs, Bryce A, Seifert, Erik C, Thorland, Joshua L, Deignan
المصدر: Genetics in Medicine. 25:100316
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefc8269fe3a923897926e8ff770eacTest
https://doi.org/10.1016/j.gim.2022.09.017Test -
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المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ffTest
https://doi.org/10.1016/j.ajhg.2020.10.005Test -
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المؤلفون: Hutton M. Kearney, Beth A. Pitel, Nicole L. Hoppman, Erik C. Thorland, Clinton E. Hagen, Linda B. Baughn, Nicole J. Boczek, Cherisse A. Marcou, Ross A. Rowsey
المصدر: Genetics in Medicine. 22:2120-2124
مصطلحات موضوعية: 0301 basic medicine, Microarray, business.industry, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Retrospective analysis, RefSeq, Medicine, Clinical significance, Copy-number variation, business, Uncertain significance, Exome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::965fe0aa495a9fad7749871a1ff0f00aTest
https://doi.org/10.1038/s41436-020-0932-0Test -
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المؤلفون: Athena M. Cherry, Hutton M. Kearney, Swaroop Aradhya, Erica F. Andersen, Gordana Raca, Sibel Kantarci, Erik C. Thorland, Deborah I. Ritter, Sarah T. South, Erin Rooney Riggs, Ankita Patel, Christa Lese Martin, Daniel E. Pineda-Alvarez
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, scoring metric, medicine.medical_specialty, education.field_of_study, Population, CNV, Technical standard, MEDLINE, Genomics, 030105 genetics & heredity, Data science, Genome, Article, 03 medical and health sciences, 030104 developmental biology, Resource (project management), classification, medicine, Medical genetics, copy number variant, Copy-number variation, Psychology, education, Genetics (clinical), interpretation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::388f33a8f8bdbeecfa12b659e8e76c82Test
http://europepmc.org/articles/PMC7313390Test -
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المؤلفون: Heidi L. Rehm, Molly Good, Courtney Thaxton, Erik C. Thorland, Xi Luo, Erin Rooney Riggs, Christa Lese Martin, Erica F. Andersen, Jonathan S. Berg, Marina T. DiStefano
المصدر: Human mutation. 43(8)
مصطلحات موضوعية: medicine.diagnostic_test, DNA Copy Number Variations, Mechanism (biology), Genome, Human, Genetic Variation, Disease, Computational biology, Genomics, Biology, Genome, Resource (project management), Genetics, medicine, Humans, Copy-number variation, Genetic Testing, Haploinsufficiency, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0016581ab3c53c0e217bc2c87e47f68aTest
https://pubmed.ncbi.nlm.nih.gov/34694049Test -
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المؤلفون: Beth A. Pitel, Katherine B. Geiersbach, Patricia T. Greipp, Nicole L. Hoppman, Kathryn E. Pearce, Hutton M. Kearney, Erik C. Thorland, Jess F. Peterson, Robert B. Jenkins, Umut Aypar, Linda B. Baughn, Roman M. Zenka, Daniel L. Van Dyke, Rhett P. Ketterling, Sarah H. Johnson, George Vasmatzis, Stephanie A. Smoley, James B. Smadbeck
المصدر: European Journal of Haematology
مصطلحات موضوعية: Male, Oncogene Proteins, Fusion, Newly diagnosed, acute myeloid leukemia, Mate pair, Molecular cytogenetics, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Humans, Medicine, In Situ Hybridization, Fluorescence, Aged, Chromosome Aberrations, MPseq, medicine.diagnostic_test, business.industry, Breakpoint, Computational Biology, High-Throughput Nucleotide Sequencing, Myeloid leukemia, Chromosome, Original Articles, Genomics, Sequence Analysis, DNA, Hematology, General Medicine, Leukemia, Myeloid, Acute, Karyotyping, 030220 oncology & carcinogenesis, Cancer research, Original Article, Female, molecular cytogenetics, Abnormality, business, 030215 immunology, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41dd51edb696004fa62a271d316dcdc0Test
https://doi.org/10.1111/ejh.13179Test -
10Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)
المؤلفون: Nicole J. Boczek, Erik C. Thorland, Thuy Nguyen, Ralitza H. Gavrilova, Linda Hasadsri, Zhiyv Niu, Carrie A. Lahner, Matthew J. Ferber
المصدر: American Journal of Medical Genetics Part A. 176:2798-2802
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Developmental Disabilities, Short stature, Frameshift mutation, 03 medical and health sciences, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Humans, Wolf–Hirschhorn syndrome, Genetic Association Studies, Genetics (clinical), Exome sequencing, Wolf-Hirschhorn Syndrome, business.industry, Genomics, Histone-Lysine N-Methyltransferase, Microdeletion syndrome, medicine.disease, Failure to Thrive, Pedigree, Repressor Proteins, Phenotype, 030104 developmental biology, Child, Preschool, Cytogenetic Analysis, Failure to thrive, Autism, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413398274cd63485cd4222050fec9bbeTest
https://doi.org/10.1002/ajmg.a.40498Test