المؤلفون: Caner Saygin, Gregory Roloff, Christopher N. Hahn, Rakchha Chhetri, Saar Gill, Hany Elmariah, Chetasi Talati, Emma Nunley, Guimin Gao, Aelin Kim, Michael Bishop, Satyajit Kosuri, Soma Das, Deepak Singhal, Parvathy Venugopal, Claire C. Homan, Anna Brown, Hamish S. Scott, Devendra Hiwase, Lucy A. Godley

المساهمون: Saygin, Caner, Roloff, Gregory, Hahn, Christopher N, Chhetri, Rakchha, Gill, Saar, Elmariah, Hany, Talati, Chetasi, Nunley, Emma, Gao, Guimin, Kim, Aelin, Bishop, Michael, Kosuri, Satyajit, Das, Soma, Singhal, Deepak, Venugopal, Parvathy, Homan, Claire C, Brown, Anna, Scott, Hamish S, Hiwase, Devendra, Godley, Lucy A

المصدر: Blood. 140:10542-10544

مصطلحات موضوعية: stimulus report, Immunology, Cell Biology, Hematology, myeloid neoplasia, Biochemistry, transplantation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1fb3e6bfd2c9a78a4988dedb6620dacTest
https://doi.org/10.1182/blood-2022-167098Test

المؤلفون: Michael W, Drazer, Claire C, Homan, Kai, Yu, Marcela, Cavalcante de Andrade Silva, Kelsey E, McNeely, Matthew J, Pozsgai, Maria G, Acevedo-Mendez, Jeremy P, Segal, Peng, Wang, Jinghua, Feng, Sarah L, King-Smith, Erika, Kim, Sophia, Korotev, David M, Lawrence, Andreas W, Schreiber, Christopher N, Hahn, Hamish S, Scott, Raman, Sood, Elvira D R P, Velloso, Anna L, Brown, Paul P, Liu, Lucy A, Godley

المساهمون: Drazer, Michael W, Homan, Claire C, Yu, Kai, de Andrade Silva,Marcela, Feng, Jinghua, King-Smith, Sarah L, Lawrence, David M, Schreiber, Andreas W, Hahn, Christopher N, Scott, Hamish S, Brown, Anna L, Godley, Lucy A, NISC Comparative Sequencing Program

المصدر: Blood Advances. 6:4357-4359

مصطلحات موضوعية: Proto-Oncogene Proteins c-ets, Humans, Intercellular Signaling Peptides and Proteins, Genetic Predisposition to Disease, Hematology, Clonal Hematopoiesis, Germ-Line Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4537328b75485bb1c9c06fb835cfb5aTest
https://doi.org/10.1182/bloodadvances.2022007211Test

المؤلفون: Jozef Gecz, Stefka Mincheva-Tasheva, Paul Q. Thomas, Claire C. Homan, Alvaro F. Nieto Guil

المساهمون: Mincheva-Tasheva, Stefka, Nieto Guil, Alvaro F, Homan, Claire C, Gecz, Jozel, Thomas, Paul Q

المصدر: Molecular Neurobiology. 58:2005-2018

مصطلحات موضوعية: 0301 basic medicine, PCDH19-Clustering Epilepsy (PCDH19-CE), PCDH19, Neurite, Neuroscience (miscellaneous), Synaptogenesis, protocadherin 19, Biology, medicine.disease_cause, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Biological neural network, Premovement neuronal activity, Mutation, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, Excitatory postsynaptic potential, epilepsy, synapses, Neuron, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8cdf130faf6db0903814af8aeba3cccTest
https://doi.org/10.1007/s12035-020-02242-4Test

المؤلفون: Christopher N. Hahn, Raman Sood, Sophia C. Korotev, Erika Kim, David M. Lawrence, Elvira Deolinda Rodrigues Pereira Velloso, Lucy A. Godley, Nisc Comparative Sequencing Program, Peng Wang, Paul P. Liu, Andreas W. Schreiber, Matthew J. Pozsgai, Kelsey E. McNeely, Claire C. Homan, Marcela Cavalcante de Andrade Silva, Anna L. Brown, Kai Yu, Jeremy P. Segal, Sarah L King-Smith, Jinghua Feng, Michael W. Drazer, Hamish S. Scott, Maria G. Acevedo

مصطلحات موضوعية: Phenocopy, Genetics, ETV6, Mutation, Germline mutation, Somatic cell, Clone (cell biology), medicine, Biology, medicine.disease_cause, Phenotype, Germline

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::580d2a5488fc8813180c959ea5b48040Test
https://doi.org/10.1101/2021.11.17.468983Test

المؤلفون: Claire C. Homan, Parvathy Venugopal, Peer Arts, Nur H. Shahrin, Simone Feurstein, Lesley Rawlings, David M. Lawrence, James Andrews, Sarah L. King‐Smith, Natasha L. Harvey, Anna L. Brown, Hamish S. Scott, Christopher N. Hahn

المصدر: Human Mutation. 42

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::966e4a2ff17258284f4c481b1137b35cTest
https://doi.org/10.1002/humu.24288Test

المؤلفون: Stefka, Mincheva-Tasheva, Alvaro F, Nieto Guil, Claire C, Homan, Jozef, Gecz, Paul Q, Thomas

المصدر: Molecular neurobiology. 58(5)

مصطلحات موضوعية: Mice, Knockout, Heterozygote, Mice, Epilepsy, Mosaicism, Mutation, Synapses, Animals, Nerve Net, Cadherins, Axons, Protocadherins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3a77c65239aefd7899cb7aa639e06638Test
https://pubmed.ncbi.nlm.nih.gov/33411240Test

المؤلفون: Jozef Gecz, Claire C. Homan, Lachlan A. Jolly, Ying Sun, Renee Carroll

المساهمون: Jolly, Lachlan A, Sun, Ying, Carroll, Renée, Homan, Claire C, Gecz, Jozef

المصدر: Journal of Human Genetics. 63:945-955

مصطلحات موضوعية: Male, 0301 basic medicine, human phenotypic variation, Cell type, Genetic Vectors, Lentivirus, Lymphoblastoid cell lines (LCLs), Computational biology, Transfection, Biology, Gene delivery, Phenotype, Cell Line, 03 medical and health sciences, Transduction (genetics), 030104 developmental biology, Lymphoblastoid cell, Transduction, Genetic, Cell culture, Genetics, Humans, Female, Lymphocytes, Functional genomics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4177a9043da9d264c163a49af48a58b8Test
https://doi.org/10.1038/s10038-018-0483-2Test

المؤلفون: Andrew Dubowsky, Jinghua Feng, Amanda Wells, Stefan Fröhling, Meryl Altree, Andreas W. Schreiber, Sue Morgan, Lesley Rawlings, Richard J D'Andrea, Anna L. Brown, Chan-Eng Chong, Joëlle Michaud, Andrew H. Wei, Georges Natsoulis, Jeffrey Suttle, Rachel Susman, Cassandra Vakulin, Tilmann Bochtler, Uday R. Popat, Mark S. Currie, Paul Wang, Milena Babic, Ella J Wilkins, Christopher N. Hahn, Miriam Fine, Xiaochun Li, Jessica Burdett, Belinda Mercorella, Catherine Carmichael, Nigel Patton, Denae Henry, Marshall S. Horwitz, Peer Arts, Kerry Phillips, Julian Cooney, Sarah Moore, Sally Mapp, Nicola K. Poplawski, Thuong Ha, Sarah L King-Smith, Louise Jaensch, Shai Izraeli, Devendra K Hiwase, Julia Dobbins, Lucy A. Godley, Cecily Forsyth, Kenneth F. Bradstock, Carolyn M. Butcher, Helen Mar Fan, Grace McKavanagh, Hugh Y. Rienhoff, Hamish S. Scott, Mario Nicola, Elli Papaemmanuil, Ping Cannon, Ian D. Lewis, Claire C. Homan, Peter J. Brautigan, Alwin Krämer

المساهمون: Brown, Anna L, Arts, Peer, Babic, Milena, Dobbins, Julia, Feng, Jinghua, Ha, Thuong, Homan, Claire C, King-Smith, Sarah L, Li, Xiao-Chun, Brautigan, Peter, Butcher, Carolyn, D'Andrea, Richard J, Hahn, Christopher N, Scott, Hamish S

المصدر: Blood advances. 4(6)

مصطلحات موضوعية: Genetics, Mutation, Myeloid Neoplasia, Somatic cell, Genetic heterogeneity, Platelet disorder, Hematology, Biology, medicine.disease_cause, Phenotype, Germline, Epigenesis, Genetic, Pedigree, Leukemia, Myeloid, Acute, Germline mutation, Germ Cells, hemic and lymphatic diseases, embryonic structures, Core Binding Factor Alpha 2 Subunit, medicine, Humans, Allele

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cc21538186700c18e024f443315b4bTest
https://pubmed.ncbi.nlm.nih.gov/32208489Test

المؤلفون: Mark A. Corbett, Paul Q. Thomas, Jozef Gecz, Duyen H. Pham, Chuan C. Tan, Kristy L. Kolc, Archa H. Fox, Claire C. Homan, Dale McAninch, Raman Kumar

المساهمون: Pham, Duyen H, Tan, Chuan C, Homan, Claire C, Kolc, Kristy L, Corbett, Mark A, McAninch, Dale, Fox, Archa H, Thomas, Paul Q, Kumar, Raman, Gecz, Jozef

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Gene Expression, Estrogen receptor, cell adhesion molecules, 0302 clinical medicine, Nuclear Matrix-Associated Proteins, genes, Genetics (clinical), Regulation of gene expression, RNA-Binding Proteins, estrogen receptors, Articles, gene expression regulation, General Medicine, Cadherins, Pedigree, 3. Good health, Cell biology, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, comorbidity, chimerism, Octamer Transcription Factors, neurosteroids, behavioral problems, Protocadherin, Breast Neoplasms, Biology, x chromosomes, 03 medical and health sciences, Cell Line, Tumor, Intellectual Disability, genetic inheritance, Genetics, Humans, cancer, Molecular Biology, Estrogen receptor beta, cognitive impairment, hemizygosity, Epilepsy, hormones, Estrogen Receptor alpha, Paraspeckle, heterozygote, Protocadherins, Androgen receptor, HEK293 Cells, mosaicism, nuclear hormone receptor, 030104 developmental biology, Nuclear receptor, Mutation, gene expression, epilepsy, autistic disorder, mutation, metabolism, Estrogen receptor alpha, breast cancer cells, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e1eba5c559243dbd2c6ad9db9bea88Test
https://doi.org/10.1093/hmg/ddx094Test

المؤلفون: Parvathy Venugopal, Miriam Fine, Kerry Phillips, Hamish S. Scott, Nicola Poplawski, Anna L. Brown, Andreas W. Schreiber, Claire C. Homan, Christopher N. Hahn, Leila Eshraghi, Nur Hezrin Shahrin, Jinghua Feng, Jesse Cheah

المصدر: Blood. 134:2686-2686

مصطلحات موضوعية: Genetics, Mutation, Immunology, Cancer, Cell Biology, Hematology, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Genome, Lymphoma, Biological pathway, Leukemia, Hematological malignancy, medicine, CRISPR

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::44b795b318737b436074848b07a8c8dfTest
https://doi.org/10.1182/blood-2019-131649Test