-
1Academic JournalCombined population genomic screening for three high-risk conditions in Australia: a modelling study
المؤلفون: Lacaze, Paul, Marquina, Clara, Tiller, Jane, Brotchie, Adam, Kang, Yoon-Jung, Merritt, Melissa A, Green, Robert C, Watts, Gerald F, Nowak, Kristen J, Manchanda, Ranjit, Canfell, Karen, James, Paul, Winship, Ingrid, McNeil, John J, Ademi, Zanfina
المصدر: eClinicalMedicine , Article 102297. (2023) (In press).
مصطلحات موضوعية: Population screening, Cost-effectiveness analysis, Health-economic evaluation, Genomic testing, Public health, Prevention, Genomics
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10181607/1/Lacaze_Manchanda_Ademi_2023_EclinMed_Population_testing_CE_Australia.pdf; https://discovery.ucl.ac.uk/id/eprint/10181607/
-
2Academic Journal
المؤلفون: Suleski, Isabella S., Smith, Robert, Vo, Christina, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Laing, Nigel G., Taylor, Rhonda L., Clayton, Joshua S.
المصدر: Stem Cell Research ; volume 63, page 102830 ; ISSN 1873-5061
-
3Academic Journal
المؤلفون: Clayton, Joshua S., Suleski, Isabella, Vo, Christina, Smith, Robert, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L.
المصدر: Stem Cell Research ; volume 63, page 102829 ; ISSN 1873-5061
-
4Academic Journal
المؤلفون: Clayton, Joshua, S, Scriba, Carolin, K, Romero, Norma, B, Malfatti, Edoardo, Saker, Safaa, Larmonier, Thierry, Nowak, Kristen, J, Ravenscroft, Gianina, Laing, Nigel, G, Taylor, Rhonda, L
المساهمون: The University of Western Australia (UWA), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Généthon, This work was supported by funding from an AFM Telethon Trampoline Grant (REF-21816) to Kristen Nowak, and A Foundation Building Strength Research Grant (ID-A3TR22, PI Nigel Laing). We also gratefully acknowledge funding from the Australian National Health and Medical Research Council, including a Principal Research Fellowship (APP1117510) to Nigel Laing and a Career Development Fellowship (APP1122952) to Gianina Ravenscroft.
المصدر: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.sorbonne-universite.fr/hal-03176265 ; Stem Cell Research, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩.
مصطلحات موضوعية: MESH: Actins / genetics, MESH: Female, MESH: Humans, MESH: Induced Pluripotent Stem Cells, MESH: Infant, MESH: Muscle, Skeletal, MESH: Mutation, MESH: Myopathies, Nemaline* / genetics, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/33740643; hal-03176265; https://hal.sorbonne-universite.fr/hal-03176265; https://hal.sorbonne-universite.fr/hal-03176265/document; https://hal.sorbonne-universite.fr/hal-03176265/file/1-s2.0-S1873506121001197-main.pdf; PUBMED: 33740643
-
5Academic Journal
المؤلفون: Clayton, Joshua, S, Scriba, Carolin, K, Romero, Norma, B, Malfatti, Edoardo, Saker, Safaa, Larmonier, Thierry, Nowak, Kristen, J, Ravenscroft, Gianina, Laing, Nigel, G, Taylor, Rhonda, L
المساهمون: The University of Western Australia (UWA), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Généthon
المصدر: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.sorbonne-universite.fr/hal-03346073 ; Stem Cell Research, 2021, 55, pp.102482. ⟨10.1016/j.scr.2021.102482⟩.
مصطلحات موضوعية: [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
-
6Academic Journal
المؤلفون: Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Li, Stephen C. H., Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., Brett, Peter, Elias, Luke, Malan, Wynand, Irvin, John, Lambert, Kirsten, Pedrotti, Annette, FH Australasia Network Consensus Working Group
المصدر: Research outputs 2014 to 2021
مصطلحات موضوعية: Familial hypercholesterolaemia, guidance, care, management, adults, children, prevention, Medicine and Health Sciences
وصف الملف: application/pdf
Relation: https://ro.ecu.edu.au/ecuworkspost2013/10817; https://ro.ecu.edu.au/context/ecuworkspost2013/article/11823/viewcontent/Synopsis_of_an_integrated_guidance_for_enhancing_the_care_of_familial_hypercholesterolaemia.pdf
-
7Academic Journal
المؤلفون: Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brett, Peter, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Elias, Luke, Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Irvin, John, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Lambert, Kirsten, Li, Stephen C. H., Malan, Wynand, Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Pedrotti, Annette, Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., FH Australasia Network Consensus Working Group
المصدر: Research outputs 2014 to 2021
مصطلحات موضوعية: familial hypercholesterolaemia, guidance, adults, children, diagnosis, assessment, genetic testing, cascade testing, management, organisation of care, Medicine and Health Sciences, Public Health
وصف الملف: application/pdf
Relation: https://ro.ecu.edu.au/ecuworkspost2013/10823; https://ro.ecu.edu.au/context/ecuworkspost2013/article/11829/viewcontent/Integrated_guidance_for_enhancing_the_care_of_familial_hypercholesterolaemia_in_Australia.pdf
-
8Academic Journal
المؤلفون: Bilkey, Gemma A., Trevithick, Richard W., Coles, Emily P., Girschik, Jennifer, Nowak, Kristen J.
المصدر: BMC Cancer ; volume 21, issue 1 ; ISSN 1471-2407
-
9Periodical
المؤلفون: Muller, Cassandra, Gallacher, Lyndon, Keogh, Louise, McInerney-Leo, Aideen, Boughtwood, Tiffany, Gleeson, Penny, Barlow-Stewart, Kristine, Delatycki, Martin B., Winship, Ingrid, Nowak, Kristen J., Otlowski, Margaret, Lacaze, Paul, Tiller, Jane
المصدر: European Journal of Human Genetics: EJHG; July 2024, Vol. 32 Issue: 7 p827-836, 10p
-
10Academic Journal
المؤلفون: Clayton, Joshua S., McNamara, Elyshia L., Goullee, Hayley, Conijn, Stefan, Muthsam, Keren, Musk, Gabrielle C., Coote, David, Kijas, James, Testa, Alison C., Taylor, Rhonda L., O'Hara, Amanda J., Groth, David, Ottenheijm, Coen A.C., Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
المصدر: Clayton , J S , McNamara , E L , Goullee , H , Conijn , S , Muthsam , K , Musk , G C , Coote , D , Kijas , J , Testa , A C , Taylor , R L , O'Hara , A J , Groth , D , Ottenheijm , C A C , Ravenscroft , G , Laing , N G & Nowak , K J 2020 , ' Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy ' , Acta neuropathologica communications , vol. 8 , no. ....
الاتاحة: https://research.vumc.nl/en/publications/0b321e4e-2c3a-4696-8c29-65820a916d08
https://doi.org/10.1186/s40478-020-01017-1
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089769093&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/32819427
http://www.scopus.com/inward/record.url?scp=85089769093&partnerID=8YFLogxK -
11Academic Journal
المؤلفون: Laitila, Jenni M, McNamara, Elyshia L, Wingate, Catherine D, Goullee, Hayley, Ross, Jacob A, Taylor, Rhonda L, van der Pijl, Robbert, Griffiths, Lisa M, Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S, Sewry, Caroline, Lawlor, Michael W, Ottenheijm, Coen A C, Bakker, Anthony J, Ochala, Julien, Laing, Nigel G, Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J
المصدر: Laitila , J M , McNamara , E L , Wingate , C D , Goullee , H , Ross , J A , Taylor , R L , van der Pijl , R , Griffiths , L M , Harries , R , Ravenscroft , G , Clayton , J S , Sewry , C , Lawlor , M W , Ottenheijm , C A C , Bakker , A J , Ochala , J , Laing , N G , Wallgren-Pettersson , C , Pelin , K & Nowak , K J 2020 , ' Nebulin nemaline ....
-
12Academic Journal
المؤلفون: Laitila, Jenni M., McNamara, Elyshia L., Wingate, Catherine D., Goullee, Hayley, Ross, Jacob A., Taylor, Rhonda L., van der Pijl, Robbert, Griffiths, Lisa M., Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S., Sewry, Caroline, Lawlor, Michael W., Ottenheijm, Coen A. C., Bakker, Anthony J., Ochala, Julien, Laing, Nigel G., Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J.
المساهمون: Katarina Pelin / Principal Investigator, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Molecular and Integrative Biosciences Research Programme, Biosciences, Genetics, Faculty of Biological and Environmental Sciences
مصطلحات موضوعية: Nebulin, Murine model, Nemaline myopathy, Skeletal muscle, Neuromuscular disease, Congenital myopathy, THIN FILAMENT LENGTH, HUMAN SKELETAL-MUSCLE, CONTRACTILE FUNCTION, EXON 55, GENE, FORCE, MICE, GENERATION, ISOFORMS, IDENTIFICATION, Neurosciences, Neurology and psychiatry
وصف الملف: application/pdf
Relation: We gratefully acknowledge research project funding from A Foundation Building Strength for Nemaline Myopathy (KN), and fellowship funding from the Endeavour Scholarships and Fellowships of the Australian Government (Endeavour Research Fellowship BR15-001318; JL), the Sigrid Juselius Foundation, the Association Francaise contre les Myopathies (18761), the Finska Lakaresallskapet and the Medicinska Understodsforeningen Liv och Halsa r.f. (JL, KP and CWP), the Australian Research Council (Future Fellowship FT100100734; KN), the Australian National Health and Medical Research Council Fellowship (Principal Research Fellowship APP1117510; NL), the Australian National Health and Medical Research Council Fellowship (Career Development Fellowship APP1122952; GR) and the Medical Research Council UK (MR/N002768/1; JO).; Laitila , J M , McNamara , E L , Wingate , C D , Goullee , H , Ross , J A , Taylor , R L , van der Pijl , R , Griffiths , L M , Harries , R , Ravenscroft , G , Clayton , J S , Sewry , C , Lawlor , M W , Ottenheijm , C A C , Bakker , A J , Ochala , J , Laing , N G , Wallgren-Pettersson , C , Pelin , K & Nowak , K J 2020 , ' Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb ' , Acta Neuropathologica Communications , vol. 8 , no. 1 , 18 . https://doi.org/10.1186/s40478-020-0893-1; ORCID: /0000-0002-7040-7266/work/71182226; http://hdl.handle.net/10138/313541; da395dfd-10fd-419d-83ad-b27cac0c9e49; 000517123000001
الاتاحة: http://hdl.handle.net/10138/313541
-
13Academic JournalTargeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
المؤلفون: Beecroft, Sarah J, Yau, Kyle S, Allcock, Richard J N, Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J, Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M, Cabrera-Serrano, Macarena, Nowak, Kristen J, Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J, Davis, Mark R, Laing, Nigel G
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Australia, Child, Preschool, Cohort Studies, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Middle Aged, Neuromuscular Diseases, New Zealand, Referral and Consultation, Young Adult
وصف الملف: application/pdf
Relation: http://hdl.handle.net/10668/15220; PMC7086001; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086001/pdf
-
14Academic Journal
المؤلفون: Salimova, Ekaterina, Nowak, Kristen J., Estrada, Ana C., Furtado, Milena B., McNamara, Elyshia, Nguyen, Quang, Balmer, Lois, Preuss, Christoph, Holmes, Jeffrey W., Ramialison, Mirana, Morahan, Grant, Rosenthal, Nadia A.
المصدر: Salimova , E , Nowak , K J , Estrada , A C , Furtado , M B , McNamara , E , Nguyen , Q , Balmer , L , Preuss , C , Holmes , J W , Ramialison , M , Morahan , G & Rosenthal , N A 2019 , ' Variable outcomes of human heart attack recapitulated in genetically diverse mice ' , npj Regenerative Medicine , vol. 4 , no. 1 , 5 . https://doi.org/10.1038/s41536-019-0067-6
مصطلحات موضوعية: genetic predisposition to disease, translational research
وصف الملف: application/pdf
-
15Academic Journal
المؤلفون: McNamara, Elyshia L, Taylor, Rhonda L, Clayton, Joshua S, Goullee, Hayley, Dilworth, Kimberley L, Pinós, Tomàs, Brull, Astrid, Alexander, Ian E, Lisowski, Leszek, Ravenscroft, Gianina, Laing, Nigel G, Nowak, Kristen J
المساهمون: Muscular Dystrophy Association, Australian National Health and Medical Research Council, NHMRC
المصدر: Human Molecular Genetics ; volume 29, issue 1, page 20-30 ; ISSN 0964-6906 1460-2083
-
16Academic Journal
المؤلفون: Bilkey, Gemma A., Burns, Belinda L., Coles, Emily P., Mahede, Trinity, Baynam, Gareth, Nowak, Kristen J.
المساهمون: Department of Health, Government of Western Australia
المصدر: Frontiers in Public Health ; volume 7 ; ISSN 2296-2565
-
17Academic Journal
المؤلفون: Bilkey, Gemma A., Burns, Belinda L., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, J. S. Dawkins, Hugh, Nowak, Kristen J., Weeramanthri, Tarun S.
المصدر: Frontiers in Public Health ; volume 7 ; ISSN 2296-2565
-
18Academic Journal
المؤلفون: Burns, Belinda L., Bilkey, Gemma A., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, Dawkins, Hugh J. S., Weeramanthri, Tarun S., Nowak, Kristen J.
المصدر: Frontiers in Public Health ; volume 7 ; ISSN 2296-2565
-
19Conference
المؤلفون: Forbes, Robin, O’Malley, Anna, An, Kim, Crossman, Vanessa, Bayley, Klair, Farrar, Michelle, Jones, Kristi, Nowak, Kristen J, O’Gorman, Cullen, Yiu, Eppie
المصدر: Abstracts ; page A22.1-A22
-
20Academic Journal
المؤلفون: Coote, David, Davis, Mark R, Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G, Nowak, Kristen J
مصطلحات موضوعية: Databases, Genetic, Dystrophin, Humans, Muscular Dystrophy, Duchenne
Relation: http://hdl.handle.net/10668/12165; PMC6018697; https://www.nature.com/articles/s41431-017-0064-4.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018697/pdf