المؤلفون: Yang Cao, Michael J. Evenson, Meagan M. Corliss, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100807- (2023)

مصطلحات موضوعية: Disorders of somatic mosaicism, NGS, PI3K/AKT/mTOR, RAS/MAPK, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008166; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/6619bfa87b2b44f0b305d84cbb34c80e

المؤلفون: Bahareh A. Mojarad, Patricia V. Hernandez, Michael J. Evenson, Meagan M. Corliss, Sarah L. Stein, Amy Theos, Carrie C. Coughlin, Bryan Sisk, Maithilee Menezes, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100815- (2023)

مصطلحات موضوعية: NGS, PIK3CA, PIK3CA-related overgrowth spectrum, PROS, Somatic mosaicism, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008245; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/8ea711a209f14e6298e7a8cde88994e4

المؤلفون: Patricia V. Hernandez, Katherine A. King, Michael J. Evenson, Meagan M. Corliss, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao

المصدر: American Journal of Medical Genetics Part A. 191:1518-1524

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf210fd39ab4a4edf5f1e71db202ed90
https://doi.org/10.1002/ajmg.a.63171

المؤلفون: Lulu Sun, Jessica S. Petrone, Samantha N. McNulty, Michael J. Evenson, Xiaopei Zhu, Joshua A. Robinson, Rebecca D. Chernock, Eric J. Duncavage, John D. Pfeifer

المصدر: Human Pathology. 123:1-10

مصطلحات موضوعية: Carcinoma, Acinar Cell, Carcinoma, Adenoma, Pleomorphic, Humans, Gene Fusion, Salivary Gland Neoplasms, In Situ Hybridization, Fluorescence, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03ca906d2d438c972fd50a2e1525c81a
https://doi.org/10.1016/j.humpath.2022.02.002

المؤلفون: Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Vascular Malformations, Somatic cell, Clinical Sciences, Limb Deformities, Congenital, Biology, medicine.disease_cause, Article, Congenital, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, PIK3R1, Genetic variation, Genetics, medicine, Humans, 2.1 Biological and endogenous factors, Lymphatic malformations, Aetiology, Genetics (clinical), Cancer, Pediatric, Genetics & Heredity, Mutation, Prevention, Human Genome, Phenotype, Large cohort, PI3K complex, Class Ia Phosphatidylinositol 3-Kinase, Limb Deformities, 030104 developmental biology, 030220 oncology & carcinogenesis, Congenital Structural Anomalies, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42821ecb36ee327aba37106bd604701
https://doi.org/10.1038/s41436-021-01211-z

المؤلفون: Ying-Chen Claire Hou, Michael J. Evenson, Meagan M. Corliss, Lily Mahapatra, Ali Aldawood, David F. Carpentieri, Sarah L. Chamlin, Ann M. Kulungowski, Suneeta Madan-Khetarpal, Jessica Sebastian, Mitchell A. Pet, Carrie C. Coughlin, Marcia C. Willing, Gregory D. Pearson, Bhuvana A. Setty, Zaki El-Haffaf, Catherine E. Cottrell, Bijal A. Parikh, Kilannin Krysiak, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics.

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d429537fa53be6bd490346ff361439a6
https://pubmed.ncbi.nlm.nih.gov/36571464

المؤلفون: Jennifer M. Yoest, Eric J. Duncavage, Samantha N. McNulty, Meaghan Riley, John D. Pfeifer, Michael J. Evenson, Meagan Corliss, Jonathan W. Heusel

المصدر: The Journal of Molecular Diagnostics. 23:200-211

مصطلحات موضوعية: 0301 basic medicine, Myeloid, medicine.diagnostic_test, business.industry, Disease, Bioinformatics, DNA sequencing, Pathology and Forensic Medicine, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Absolute neutrophil count, medicine, Molecular Medicine, Congenital Neutropenia, business, Gene, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e428c5c18dcdeedef856ae222a1a562c
https://doi.org/10.1016/j.jmoldx.2020.10.014

المؤلفون: Chunyu Cai, Michael J. Evenson, Vishwanathan Hucthagowder, Shashikant Kulkarni, Julie Neidich, Sonika Dahiya, Samantha N. McNulty

المصدر: Cancer Genetics. 240:66-72

مصطلحات موضوعية: Adult, Male, Ependymoma, Cancer Research, Lineage (genetic), DNA Copy Number Variations, Microarray, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 20, Posterior fossa, Infratentorial Neoplasms, Biology, Bioinformatics, Aggressive course, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Copy-number variation, Tumor location, Child, Molecular Biology, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Infant, Supratentorial Neoplasms, Prognosis, medicine.disease, Progression-Free Survival, Cranial Fossa, Posterior, Child, Preschool, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 5, Feasibility Studies, Female, Intracranial ependymoma, Neoplasm Grading

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ecabf659afbc3fb12c9c265423fab30
https://doi.org/10.1016/j.cancergen.2019.11.003

المؤلفون: Yi-Shan Lee, Molly C Schroeder, Michael J. Evenson, Beth A. Drolet, Meagan Corliss, Jonathan W. Heusel, Catherine E. Cottrell, Julie Neidich, Samantha N. McNulty, Yang Cao, Latisha Love-Gregory

المصدر: The American Journal of Human Genetics. 105:734-746

مصطلحات موضوعية: 0301 basic medicine, Somatic cell, Biopsy, Buccal swab, Population, 030105 genetics & heredity, Biology, Article, DNA sequencing, Deep sequencing, Cohort Studies, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Testing, Allele, education, Genetics (clinical), education.field_of_study, Mosaicism, High-Throughput Nucleotide Sequencing, Cancer, medicine.disease, 030104 developmental biology, Immunology, Cohort

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a538b3f6fa1ed9e988da01fe0311e989
https://doi.org/10.1016/j.ajhg.2019.09.002

المؤلفون: Joshua Robinson, John D. Pfeifer, Michael J. Evenson, Samantha N. McNulty, Eric J. Duncavage, Xiaopei Zhu, Lulu Sun, Patrick R. Mann

المصدر: The Journal of molecular diagnostics : JMD. 23(12)

مصطلحات موضوعية: medicine.diagnostic_test, Sequence Analysis, RNA, Carcinoma, RNA, High-Throughput Nucleotide Sequencing, Sarcoma, Soft Tissue Neoplasms, Computational biology, Biology, medicine.disease, Pathology and Forensic Medicine, chemistry.chemical_compound, chemistry, Neoplasms, medicine, Molecular Medicine, Humans, Gene Fusion, Gene, DNA, In Situ Hybridization, Fluorescence, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd69251df85578e434d8c4b708bdff3
https://pubmed.ncbi.nlm.nih.gov/34562614