المؤلفون: Herkert, JC, Verhagen, Judith, Yotti, R, Haghighi, A, Phelan, DG, James, PA, Brown, NJ, Stutterd, C, Macciocca, I, Leong, K, Bulthuis, MLC, Bever, Yolande, van Slegtenhorst, Marjon, Boven, LG, Roberts, AE, Agarwal, R, Seidman, J, Lakdawala, NK, Fernandez-Aviles, F, Burke, MA, Pierpont, ME, Braunlin, E, Aaglayan, AO, Barge-Schaapveld, D, Birnie, E, Van Osch - Gevers, Lennie, van Langen, IM, Jongbloed, JD, Lockhart, PJ, Amor, DJ, Seidman, CE, De Graaf - van de Laar, Ingrid

المصدر: Herkert , JC , Verhagen , J , Yotti , R , Haghighi , A , Phelan , DG , James , PA , Brown , NJ , Stutterd , C , Macciocca , I , Leong , K , Bulthuis , MLC , Bever , Y , van Slegtenhorst , M , Boven , LG , Roberts , AE , Agarwal , R , Seidman , J , Lakdawala , NK , Fernandez-Aviles , F , Burke , MA , Pierpont , ME , Braunlin , E , Aaglayan , AO , Barge-Schaapveld , D , Birnie , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/5c3c332f-cef7-4286-9469-c8fed452065f
https://doi.org/10.1016/j.ahj.2020.03.023
https://pure.eur.nl/ws/files/48326128/Repub_127495_O-A.pdf
http://hdl.handle.net/1765/127495

المؤلفون: Field, M, Dudding-Byth, T, Arpone, M, Baker, EK, Aliaga, SM, Rogers, C, Hickerton, C, Francis, D, Phelan, DG, Palmer, EE, Amor, DJ, Slater, H, Bretherton, L, Ling, L, Godler, DE

المصدر: urn:ISSN:1661-6596 ; urn:ISSN:1422-0067 ; International Journal of Molecular Sciences, 20, 16, 3907

مصطلحات موضوعية: Fragile X Syndrome, Pediatric, Mental Health, Autism, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, Alleles, Autistic Disorder, Child, Preschool, DNA Methylation, Fragile X Mental Retardation Protein, Humans, Male, Mosaicism, Mutation, RNA, Messenger, Siblings, Up-Regulation, AmplideX, MS-QMA, RNA toxicity, pediatrics, anzsrc-for: 0399 Other Chemical Sciences, anzsrc-for: 0604 Genetics, anzsrc-for: 0699 Other Biological Sciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_61828; https://unsworks.unsw.edu.au/bitstreams/9595dd25-e54c-4472-81e1-70cb895de7e0/download; https://unsworks.unsw.edu.au/bitstreams/a2180378-d9e1-42a9-8a00-83ca97cf0f63/download; https://doi.org/10.3390/ijms20163907

الاتاحة: http://hdl.handle.net/1959.4/unsworks_61828
https://unsworks.unsw.edu.au/bitstreams/9595dd25-e54c-4472-81e1-70cb895de7e0/download
https://unsworks.unsw.edu.au/bitstreams/a2180378-d9e1-42a9-8a00-83ca97cf0f63/download
https://doi.org/10.3390/ijms20163907

المؤلفون: Anderson, DJ, Kaplan, DI, Bell, KM, Koutsis, K, Haynes, JM, Mills, RJ, Phelan, DG, Qian, EL, Leitoguinho, AR, Arasaratnam, D, Labonne, T, Ng, ES, Davis, RP, Casini, S, Passier, R, Hudson, JE, Porrello, ER, Costa, MW, Rafii, A, Curl, CL, Delbridge, LM, Harvey, RP, Oshlack, A, Cheung, MM, Mummery, CL, Petrou, S, Elefanty, AG, Stanley, EG, Elliott, DA

المصدر: urn:ISSN:2041-1723 ; Nature Communications, 9, 1, 1373

مصطلحات موضوعية: Cardiovascular, Heart Disease, Stem Cell Research, Congenital Structural Anomalies, Regenerative Medicine, Pediatric, Genetics, 2 Aetiology, 2.1 Biological and endogenous factors, Action Potentials, Basic Helix-Loop-Helix Transcription Factors, Cell Differentiation, Cell Line, Gene Deletion, Gene Expression Regulation, Developmental, Gene Regulatory Networks, Homeobox Protein Nkx-2.5, Human Embryonic Stem Cells, Humans, Myocardium, Myocytes, Cardiac, Organogenesis, Patch-Clamp Techniques, Receptor, Platelet-Derived Growth Factor alpha, Repressor Proteins, Transcription, Genetic

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_64577; https://unsworks.unsw.edu.au/bitstreams/39f0cb91-7a36-46b6-afbd-f203868e3f25/download; https://doi.org/10.1038/s41467-018-03714-x

الاتاحة: http://hdl.handle.net/1959.4/unsworks_64577
https://unsworks.unsw.edu.au/bitstreams/39f0cb91-7a36-46b6-afbd-f203868e3f25/download
https://doi.org/10.1038/s41467-018-03714-x

المؤلفون: Walsh, M, Bell, KM, Chong, B, Creed, E, Brett, GR, Pope, K, Thorne, NP, Sadedin, S, Georgeson, P, Phelan, DG, Day, T, Taylor, JA, Sexton, A, Lockhart, PJ, Kiers, L, Fahey, M, Macciocca, I, Gaff, CL, Oshlack, A, Yiu, EM, James, PA, Stark, Z, Ryan, MM

Relation: NHMRC/APP1032364; pii: ACN3409; Walsh, M., Bell, K. M., Chong, B., Creed, E., Brett, G. R., Pope, K., Thorne, N. P., Sadedin, S., Georgeson, P., Phelan, D. G., Day, T., Taylor, J. A., Sexton, A., Lockhart, P. J., Kiers, L., Fahey, M., Macciocca, I., Gaff, C. L., Oshlack, A. ,. Ryan, M. M. (2017). Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 4 (5), pp.318-325. https://doi.org/10.1002/acn3.409.; http://hdl.handle.net/11343/256141

الاتاحة: http://hdl.handle.net/11343/256141

المؤلفون: Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M, Stutterd, CA, Bahlo, M, Delatycki, MB, Berkovic, SF

مصطلحات موضوعية: 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery, Adolescent, Adult, Aged, Australia, Child, Computational Biology, Exome, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Phenotype, Prospective Studies, Young Adult

وصف الملف: Print-Electronic; application/pdf

Relation: Journal of Neurological Sciences; Journal of Neurological Sciences, 2021, 420, pp. 1-8; http://hdl.handle.net/10453/154663

الاتاحة: http://hdl.handle.net/10453/154663

المؤلفون: Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M, Stutterd, CA, Bahlo, M, Delatycki, MB, Berkovic, SF

مصطلحات موضوعية: diagnosis, neurodegenerative, neurogenetics, neurology, next generation sequencing

Relation: Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M orcid:0000-0002-5441-1732 , Stutterd, CA, Bahlo, M, Delatycki, MB and Berkovic, SF 2021 , 'The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective' , Journal of the Neurological Sciences, vol. 420 , doi: https://doi.org/10.1016/j.jns.2020.117260 .

الاتاحة: https://eprints.utas.edu.au/37612/

المؤلفون: Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, Pfundt, R, Dowling, C, Toler, TL, Sutton, VR, Agolini, E, Rinelli, M, Capolino, R, Martinelli, D, Zampino, G, Dumic, M, Reardon, W, Shaw-Smith, C, Leventer, RJ, Delatycki, MB, Kleefstra, T, Mundlos, S, Mortier, G, Bahlo, M, Allen, NJ, Lockhart, PJ

Relation: NHMRC/APP1032364; pii: S0002-9297(19)30071-0; Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G. ,. Lockhart, P. J. (2019). Pathogenic Variants in GPC4 Cause Keipert Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 104 (5), pp.914-924. https://doi.org/10.1016/j.ajhg.2019.02.026.; http://hdl.handle.net/11343/294200

الاتاحة: http://hdl.handle.net/11343/294200

المؤلفون: Abrams, AJ, Fontanesi, F, Tan, NBL, Buglo, E, Campeanu, IJ, Rebelo, AP, Kornberg, AJ, Phelan, DG, Stark, Z, Zuchner, S

Relation: Abrams, A. J., Fontanesi, F., Tan, N. B. L., Buglo, E., Campeanu, I. J., Rebelo, A. P., Kornberg, A. J., Phelan, D. G., Stark, Z. & Zuchner, S. (2018). Insights into the genotype-phenotype correlation and molecular function of SLC25A46. HUMAN MUTATION, 39 (12), pp.1995-2007. https://doi.org/10.1002/humu.23639.; http://hdl.handle.net/11343/284489

الاتاحة: http://hdl.handle.net/11343/284489