المؤلفون: Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian, Kirsty McWalter, Erin Torti

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100384- (2025)

مصطلحات موضوعية: RUNX1T1, clinical exome sequencing, neurodevelopmental disorder, autism, congenital anomalies, candidate gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001246; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/c2f349dfe2e048f4801d494abc5fbe23

المؤلفون: Daniel E. Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadikovic, Wolf Reik, Janet M. Thornton

المصدر: Genome Biology, Vol 20, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Aging, Epigenetics, DNA methylation, Epigenetic clock, Biological age, Developmental disorder, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-019-1753-9; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/cd20924a14ee4e9ab07216a2bfff971e

المؤلفون: Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic

المصدر: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Epigenetics, Episignature, DNA methylation, ADNP, Helsmoortel-Van der Aa syndrome, Autism, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-019-0658-5; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b

المؤلفون: Sadegheh Haghshenas, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Haley McConkey, Tugce Balci, Victoria Mok Siu, Cindy D. Skinner, Roger E. Stevenson, Bekim Sadikovic, Charles Schwartz

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 3; Pages: 1111

مصطلحات موضوعية: epigenetics, DNA methylation, episignature, FAM50A, Armfield X-linked intellectual disability, constitutional disorders

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22031111

الاتاحة: https://doi.org/10.3390/ijms22031111

المؤلفون: Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d7

المؤلفون: Erfan Aref-Eshghi, Oliver Hurley, Guang Sun, Alvin Simms, Marshall Godwin, Pauline Duke, Mehdee Araee, Masoud Mahdavian, Shabnam Asghari

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: HDL, Dyslipidemia, RBP4, Mixed model, Genetics, Associations, Internal medicine, RC31-1245, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0719-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/86bb12eefe7e46e2a3413386b26e99aa

المؤلفون: Pardis Pedram, Erfan Aref-Eshghi, Hensley H. Mariathas, Oliver Hurley, Marshall Godwin, Pauline Duke, Masoud Mahdavian, Shabnam Asghari

المصدر: Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Dyslipidemia, Newfoundland, HDL-C, LDL-C, Cholesterol, Trend, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12944-018-0752-2; https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/eee739a933ee48d98fec9bd0c9e475de

المؤلفون: Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic

المصدر: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: KDM5C, DNA methylation, Variants of unknown significance, X-linked intellectual disability, Claes-Jensen, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-018-0453-8; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/f391ff28057f4241b38e4796222c339f

المؤلفون: Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic

المصدر: Epigenetics, Vol 12, Iss 11, Pp 923-933 (2017)

مصطلحات موضوعية: kabuki syndrome, kmt2d, kdm6a, dna methylation, variant classification, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1559-2294; https://doaj.org/toc/1559-2308

URL الوصول: https://doaj.org/article/f6d1d83c2697436c861b1f7525b9fa93

المؤلفون: Erfan Aref-Eshghi, Marylin M. Li

المصدر: Advances in Molecular Pathology. 5:9-27

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f97d4c34afd667b19a844063fe2a3d47
https://doi.org/10.1016/j.yamp.2022.07.002

المؤلفون: Laura K. Conlin, Erfan Aref‐Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan

المصدر: Human Mutation. 43:1531-1544

مصطلحات موضوعية: Genetics, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Pathology, Molecular, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01a2db3b28e47e5feca3571cab951dd
https://doi.org/10.1002/humu.24465

المؤلفون: Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, Bekim Sadikovic

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 23; Pages: 9303

مصطلحات موضوعية: epigenetics, DNA methylation, episignature, neurodevelopmental disorders, overgrowth with intellectual disability syndromes, constitutional disorders, machine learning, support vector machines, random forest

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms21239303

الاتاحة: https://doi.org/10.3390/ijms21239303

المؤلفون: Erfan Aref-Eshghi, Laila C. Schenkel, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Jean-Claude Cutz, Bekim Sadikovic

المصدر: Frontiers in Oncology, Vol 8 (2018)

مصطلحات موضوعية: prostate cancer, DNA methylation, protein interaction, transcription factor binding, copy number variation, differentially methylated regions, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fonc.2018.00100/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/73da29a9ac6e446ba2792b8e2f9dc7b6

المؤلفون: Fumin Lin, Erfan Aref-Eshghi, Yiming Zhong, Marilyn M. Li

المصدر: Cancer Genetics. :110-119

مصطلحات موضوعية: Cancer Research, Oncogene Proteins, Fusion, medicine.disease_cause, Receptor tyrosine kinase, Neoplasms, Biomarkers, Tumor, Genetics, medicine, Animals, Humans, Receptor, trkB, Gene family, Receptor, trkC, Receptor, trkA, Molecular Biology, Gene, biology, medicine.diagnostic_test, Kinase, Prognosis, Reverse transcription polymerase chain reaction, biology.protein, Cancer research, Carcinogenesis, Secretory Breast Carcinoma, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94c92b1e53b661fd3b261c6023b8882
https://doi.org/10.1016/j.cancergen.2021.10.005

المؤلفون: Robert Chen, Maria Alejandra Diaz‐Miranda, Erfan Aref‐Eshghi, Tiffiney R. Hartman, Christopher Griffith, Jennifer L. Morrison, Patricia G. Wheeler, Erin Torti, Gabriele Richard, Margaret Kenna, Elizabeth T. Dechene, Nancy B. Spinner, Renkui Bai, Laura K. Conlin, Ian D. Krantz, Sami S. Amr, Minjie Luo

المصدر: Human mutationREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3e40d856ff7ca5195e476aed2fa497
https://pubmed.ncbi.nlm.nih.gov/35870179

المؤلفون: Erfan Aref-Eshghi, Subrata Chakrabarti, Bekim Sadikovic, Saumik Biswas, Charlie Chen

المصدر: Paediatrics Publications

مصطلحات موضوعية: 0301 basic medicine, Aging, Physiology, Endothelial cells, Cellular differentiation, Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Human Umbilical Vein Endothelial Cells, Humans, Promoter Regions, Genetic, Gene, DNA methylation, Genome, Human, Diabetes, Genes, Homeobox, Endothelial Cells, DNA, Cell Biology, Methylation, DNA Methylation, Cell biology, Endothelial stem cell, Glucose, 030104 developmental biology, Differentially methylated regions, Gene Expression Regulation, CpG site, Cell culture, 030220 oncology & carcinogenesis, CpG Islands

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6628af6e9a64f11bfe2275f39ecd548d
https://doi.org/10.1152/ajpcell.00011.2020

المؤلفون: Feng, Xu, Erfan, Aref-Eshghi, Jinhua, Wu, Jeffrey, Schubert, Gerald, Wertheim, Tricia, Bhatti, Jennifer, Pogoriler, Maha, Patel, Kajia, Cao, Ariel, Long, Zhiqian, Fan, Elizabeth H, Denenberg, Elizabeth A, Fanning, Donna M, Wilmoth, Minjie, Luo, Laura K, Conlin, Aleksandra S, Dain, Kristin, Zelley, Sarah, Baldino, Naomi, Balamuth, Suzanne, MacFarland, Marilyn M, Li, Yiming, Zhong

المصدر: Cold Spring Harbor molecular case studies. 8(3)

مصطلحات موضوعية: Adult, Li-Fraumeni Syndrome, Gene Duplication, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Tumor Suppressor Protein p53, Child, Adrenal Cortex Neoplasms, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9ac63a987518078304622887e94241f1
https://pubmed.ncbi.nlm.nih.gov/35232817

المؤلفون: Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir, Kajia Cao, Juliana Troiani, Alicia Moseley, Zhiqian Fan, Zarazuela Zolkipli-Cunningham, Amy Goldstein, Rebecca D. Ganetzky, Colleen C. Muraresku, James T. Peterson, Nancy B. Spinner, Douglas C. Wallace, Matthew C. Dulik, Marni J. Falk

المصدر: Mol Genet Metab

مصطلحات موضوعية: Endocrinology, Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, Genome, Mitochondrial, Genetics, High-Throughput Nucleotide Sequencing, Humans, Molecular Biology, Biochemistry, DNA, Mitochondrial, Article, Mitochondria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::663fb7f3449529fb1c8aa78ea4f58b83
https://europepmc.org/articles/PMC8877466/

المؤلفون: Erfan Aref-Eshghi, Kajia Cao, Weixuan Fu, Kathleen Wood, Nancy Spinner, Matthew Dulik, Laura Conlin, Jing Wang, Minjie Luo

المصدر: Genetics in Medicine. 24:S197-S198

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d55546aac853ab847663645456320e0
https://doi.org/10.1016/j.gim.2022.01.348

المؤلفون: Ben Hedley, Philip Berardi, Fen Guo, Christopher J. Howlett, Stephanie Santos, Michael J. Rauh, Michael J. Kovacs, Ian Chin-Yee, Ping Yang, Peter Ainsworth, Erfan Aref-Eshghi, Uday Deotare, Michael A. Levy, Joan H.M. Knoll, Laura Semenuk, Hanxin Lin, Bekim Sadikovic, Henry K. Wong, Jennifer Kerkhof, Alan Graham Stuart, Anargyros Xenocostas, Harriet Feilotter, Alejandro Lazo-Langner, Catherine M. McLachlin, M. Keeney, Cyrus C. Hsia

المصدر: European Journal of Haematology. 103:178-189

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Oncogene Proteins, Fusion, Cost effectiveness, Fusion gene, Internal medicine, Gene panel, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Retrospective Studies, Genetic testing, Protocol (science), Clinical screening, medicine.diagnostic_test, business.industry, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Anatomical pathology, Genomics, Hematology, General Medicine, Hematologic Neoplasms, Mutation, Cohort, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5abb67effa927012eed15b9142f3e0
https://doi.org/10.1111/ejh.13272