Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Publikováno v:
The American Journal of Human Genetics. 110:419-426
Refereed/Peer-reviewed Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of
Autor:
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Publikováno v:
Am J Hum Genet
Autor:
Haloom Rafehi, Cherie Green, Kiymet Bozaoglu, Greta Gillies, Martin B. Delatycki, Paul J. Lockhart, Ingrid E. Scheffer, Melanie Bahlo
Publikováno v:
European Journal of Human Genetics. 31:122-124
Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by molecular tools. Methodological advances have made repeat expansion (RE) detection with whole genom
Autor:
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
Publikováno v:
Hum Mol Genet
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue. This has reveal
Autor:
Edward K Murrell, Vihandha O. Wickramasinghe, Sean Massey, Russell Gear, Susan M. White, Lyndon Gallacher, John Christodoulou, Lynn Pais, Kate Pope, Cas Simons, Kirsty Carey, Paul J. Lockhart, Katrina M. Bell, Andrew J. Kornberg, Nicole J Van Bergen, Marzena Walkiewicz
Publikováno v:
Hum Mol Genet
The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and cytoplasm. Genetic variants in components of the NPC have been shown to cause a range of neurological disorders, includ
Autor:
Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan
Publikováno v:
TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002
https://doi.org/10.1016/j.ajhg.2022.03.002
Publikováno v:
Journal of Molecular Medicine (Berlin, Germany)
p38 mitogen-activated protein kinases (P38α and β) and c-Jun N-terminal kinases (JNK1, 2, and 3) are key mediators of the cellular stress response. However, prolonged P38 and JNK signalling is associated with damaging inflammatory responses, reacti
Autor:
Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis
Publikováno v:
Hum Mutat
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48
https://europepmc.org/articles/PMC8720068/
https://europepmc.org/articles/PMC8720068/
Autor:
Paul J. Lockhart, David J. Amor, Vesna Lukic, Paul J Gow, Miriam Fanjul, Martin B. Delatycki, Edward D Janus, Alexa Kidd, Teddy Y. Wu, Melanie Bahlo, John S. Archer, Chloe A Stutterd, Marjo S van der Knaap, Anthony Raizis, Christopher M. Florkowski, Richard J. Leventer
Publikováno v:
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495c164921dd63aeb844a7ac497a18be
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
Autor:
Jacqueline M. Ogier, Yujing Gao, Eileen M. Dunne, Michael A. Wilson, Sarath C. Ranganathan, Gregory H. Tesch, David J. Nikolic Paterson, Alain Dabdoub, Rachel A. Burt, Bryony A. Nayagam, Paul J. Lockhart
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 100(5)
Abstract Aminoglycoside antibiotics are lifesaving medicines, crucial for the treatment of chronic or drug resistant infections. However, aminoglycosides are toxic to the sensory hair cells in the inner ear. As a result, aminoglycoside-treated indivi