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Wyszukujesz frazę ""Cowley, Mark J."" wg kryterium: Autor


Tytuł :
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Autorzy :
Ma, AlanAff1, Aff2, Aff3
Yousoof, SairaAff1, Aff4
Grigg, John R.Aff1, Aff5, Aff6
Flaherty, MareeAff5, Aff6
Minoche, Andre E.
Cowley, Mark J.Aff7, Aff8, Aff9
Nash, Benjamin M.Aff1, Aff3, Aff10
Ho, GladysAff3, Aff10
Gayagay, Thet
Lai, Tiffany
Farnsworth, Elizabeth
Hackett, Emma L.
Fisk, Katrina
Wong, Karen
Holman, Katherine J.
Jenkins, Gemma
Cheng, Anson
Martin, FrankAff5, Aff6
Karaconji, TanyaAff5, Aff6, Aff11
Elder, James E.Aff12, Aff13
Enriquez, AnnabelleAff2, Aff3
Wilson, MeredithAff2, Aff3
Amor, David J.Aff14, Aff15
Stutterd, Chloe A.Aff14, Aff15
Kamien, Benjamin
Nelson, John
Dinger, Marcel E.Aff7, Aff18
Bennetts, BruceAff3, Aff10
Jamieson, Robyn V.Aff1, Aff2, Aff3
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(10):1623-1632
Czasopismo naukowe
Tytuł :
Molecular patterns in salivary duct carcinoma identify prognostic subgroups
Autorzy :
Mueller, Simon A.Aff1, Aff2, Aff3
Gauthier, Marie-Emilie A.Aff1, Aff2, Aff4
Blackburn, JamesAff5, Aff6
Grady, John P.
Kraitsek, Spiridoula
Hajdu, Elektra
Dettmer, Matthias S.
Dahlstrom, Jane E.
Lee, C. SoonAff10, Aff11, Aff12, Aff13, Aff14, Aff15
Luk, Peter P.Aff1, Aff14
Yu, BingAff7, Aff15
Giger, Roland
Kummerfeld, SarahAff2, Aff6
Clark, Jonathan R.Aff1, Aff15, Aff16
Gupta, RutaAff1, Aff14, Aff15
Cowley, Mark J.Aff2, Aff4, Aff6
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Źródło :
Modern Pathology: Publishing innovative clinical and translational research in the pathology of human disease. 33(10):1896-1909
Czasopismo naukowe
Tytuł :
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Autorzy :
Riley, Lisa G.Aff1, Aff2
Cowley, Mark J.Aff3, Aff4
Gayevskiy, Velimir
Minoche, Andre E.
Puttick, Clare
Thorburn, David R.Aff5, Aff6, Aff7
Rius, Rocio
Compton, Alison G.
Menezes, Minal J.Aff1, Aff2
Bhattacharya, KaustuvAff2, Aff8
Coman, DavidAff9, Aff10, Aff11
Ellaway, CarolynAff2, Aff8, Aff12
Alexander, Ian E.Aff2, Aff8
Adams, LouisaAff2, Aff8, Aff12
Kava, MainaAff13, Aff14, Aff15
Robinson, Jacqui
Sue, Carolyn M.Aff3, Aff17
Balasubramaniam, ShantiAff8, Aff12, Aff13
Christodoulou, JohnAff1, Aff2, Aff5, Aff6, Aff7, Aff12
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(7):1254-1261
Czasopismo naukowe
Tytuł :
Proteogenomic analysis of Inhibitor of Differentiation 4 (ID4) in basal-like breast cancer
Autorzy :
Baker, Laura A.Aff1, Aff2
Holliday, HollyAff1, Aff2
Roden, DanielAff1, Aff2
Krisp, ChristophAff3, Aff4
Wu, Sunny Z.Aff1, Aff2
Junankar, SimonAff1, Aff2
Serandour, Aurelien A.
Mohammed, Hisham
Nair, Radhika
Sankaranarayanan, Geetha
Law, Andrew M. K.Aff1, Aff2
McFarland, Andrea
Simpson, Peter T.
Lakhani, SunilAff7, Aff8
Dodson, EoinAff1, Aff2
Selinger, Christina
Anderson, LyndalAff9, Aff10
Samimi, Goli
Hacker, Neville F.
Lim, ElgeneAff1, Aff2
Ormandy, Christopher J.Aff1, Aff2
Naylor, Matthew J.
Simpson, KayleneAff14, Aff15
Nikolic, Iva
O’Toole, SandraAff1, Aff2, Aff9, Aff10
Kaplan, Warren
Cowley, Mark J.Aff1, Aff2
Carroll, Jason S.
Molloy, Mark
Swarbrick, AlexanderAff1, Aff2
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Źródło :
Breast Cancer Research. 22(1)
Czasopismo naukowe
Tytuł :
HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer
Autorzy :
Allison, Sarah
Biankin, Andrew V.
Chang, David K.
Cooke, Susanna L.
Dreyer, Stephan
Grimwood, Paul
Kelly, Shane
Marshall, John
McDade, Brian
McElroy, Daniel
Ramsay, Donna
Upstill-Goddard, Rosie
Rebus, Selma
Hair, Jane
Jamieson, Nigel B.
McKay, Colin J.
Westwood, Paul
Williams, Nicola
Duthie, Fraser
Biankin, Andrew V.
Johns, Amber L.
Mawson, Amanda
Chang, David K.
Scarlett, Christopher J.
Brancato, Mary-Anne L.
Rowe, Sarah J.
Simpson, Skye H.
Martyn-Smith, Mona
Thomas, Michelle T.
Chantrill, Lorraine A.
Chin, Venessa T.
Chou, Angela
Cowley, Mark J.
Humphris, Jeremy L.
Mead, R. Scott
Nagrial, Adnan M.
Pajic, Marina
Pettit, Jessica
Pinese, Mark
Rooman, Ilse
Wu, Jianmin
Tao, Jiang
DiPietro, Renee
Watson, Clare
Steinmann, Angela
Lee, Hong Ching
Wong, Rachel
Pinho, Andreia V.
Giry-Laterriere, Marc
Daly, Roger J.
Musgrove, Elizabeth A.
Sutherland, Robert L.
Grimmond, Sean M.
Waddell, Nicola
Kassahn, Karin S.
Miller, David K.
Wilson, Peter J.
Patch, Ann-Marie
Song, Sarah
Harliwong, Ivon
Idrisoglu, Senel
Nourbakhsh, Ehsan
Manning, Suzanne
Wani, Shivangi
Gongora, Milena
Anderson, Matthew
Holmes, Oliver
Leonard, Conrad
Taylor, Darrin
Wood, Scott
Xu, Christina
Nones, Katia
Fink, J. Lynn
Christ, Angelika
Bruxner, Tim
Cloonan, Nicole
Newell, Felicity
Pearson, John V.
Quinn, Michael
Nagaraj, Shivashankar
Kazakoff, Stephen
Waddell, Nick
Krisnan, Keerthana
Quek, Kelly
Wood, David
Samra, Jaswinder S.
Gill, Anthony J.
Pavlakis, Nick
Guminski, Alex
Toon, Christopher
Asghari, Ray
Merrett, Neil D.
Pavey, Darren
Das, Amitabha
Cosman, Peter H.
Ismail, Kasim
O’Connnor, Chelsie
Lam, Vincent W.
McLeod, Duncan
Pleass, Henry C.
Richardson, Arthur
James, Virginia
Kench, James G.
Cooper, Caroline L.
Joseph, David
Sandroussi, Charbel
Crawford, Michael
Gallagher, James
Texler, Michael
Forest, Cindy
Laycock, Andrew
Epari, Krishna P.
Ballal, Mo
Fletcher, David R.
Mukhedkar, Sanjay
Spry, Nigel A.
DeBoer, Bastiaan
Chai, Ming
Zeps, Nikolajs
Beilin, Maria
Feeney, Kynan
Nguyen, Nan Q.
Ruszkiewicz, Andrew R.
Worthley, Chris
Tan, Chuan P.
Debrencini, Tamara
Chen, John
Brooke-Smith, Mark E.
Papangelis, Virginia
Tang, Henry
Barbour, Andrew P.
Clouston, Andrew D.
Martin, Patrick
O’Rourke, Thomas J.
Chiang, Amy
Fawcett, Jonathan W.
Slater, Kellee
Yeung, Shinn
Hatzifotis, Michael
Hodgkinson, Peter
Christophi, Christopher
Nikfarjam, Mehrdad
Mountain, Angela
Eshleman, James R.
Hruban, Ralph H.
Maitra, Anirban
Iacobuzio-Donahue, Christine A.
Schulick, Richard D.
Wolfgang, Christopher L.
Morgan, Richard A.
Hodgin, Mary
Scarpa, Aldo
Lawlor, Rita T.
Beghelli, Stefania
Corbo, Vincenzo
Scardoni, Maria
Bassi, Claudio
Tempero, Margaret A.
Nourse, Craig
Jamieson, Nigel B.
Graham, Janet S.
Brunton, Holly
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Źródło :
In Cell Reports 12 May 2020 31(6)
Czasopismo naukowe
Tytuł :
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
Autorzy :
Pinese, MarkAff1, Aff2, Aff3
Lacaze, Paul
Rath, Emma M.
Stone, AndrewAff1, Aff2, Aff3, Aff5
Brion, Marie-Jo
Ameur, AdamAff4, Aff6
Nagpal, Sini
Puttick, Clare
Husson, Shane
Degrave, Dmitry
Cristina, Tina Navin
Kahl, Vivian F. S.
Statham, Aaron L.
Woods, Robyn L.
McNeil, John J.
Riaz, Moeen
Barr, Margo
Nelson, Mark R.Aff4, Aff11
Reid, Christopher M.Aff4, Aff12
Murray, Anne M.Aff13, Aff14
Shah, Raj C.
Wolfe, Rory
Atkins, Joshua R.Aff16, Aff17
Fitzsimmons, ChantelAff16, Aff17
Cairns, Heath M.Aff16, Aff17
Green, Melissa J.Aff18, Aff19
Carr, Vaughan J.Aff18, Aff19, Aff20
Cowley, Mark J.Aff1, Aff2, Aff3
Pickett, Hilda A.
James, Paul A.Aff21, Aff22
Powell, Joseph E.Aff23, Aff24
Kaplan, WarrenAff1, Aff5
Gibson, Greg
Gyllensten, Ulf
Cairns, Murray J.Aff16, Aff17
McNamara, Martin
Dinger, Marcel E.Aff1, Aff25
Thomas, David M.Aff1, Aff5
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Źródło :
Nature Communications. 11(1)
Czasopismo naukowe
Tytuł :
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
Autorzy :
Kim, Aryun
Kumar, Kishore R.Aff2, Aff3, Aff4, Aff5
Davis, Ryan L.Aff2, Aff3
Mallawaarachchi, Amali C.
Gayevskiy, Velimir
Minoche, Andre E.
Walls, ZacharyAff2, Aff7
Kim, Han-Joon
Jang, Mihee
Cowley, Mark J.Aff2, Aff10, Aff11
Choi, Ji-Hyun
Shin, Chaewon
Sue, Carolyn M.Aff3, Aff4
Jeon, Beomseok
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Źródło :
The Cerebellum. 18(4):781-790
Czasopismo naukowe
Tytuł :
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Autorzy :
Minoche, Andre E.
Horvat, Claire
Johnson, Renee
Gayevskiy, Velimir
Morton, Sarah U.
Drew, Alexander P.
Woo, Kerhan
Statham, Aaron L.
Lundie, Ben
Bagnall, Richard D.Aff5, Aff6
Ingles, JodieAff5, Aff6, Aff7
Semsarian, ChristopherAff5, Aff6, Aff7
Seidman, J. G.Aff8, Aff9
Seidman, Christine E.Aff9, Aff10
Dinger, Marcel E.Aff1, Aff4, Aff11
Cowley, Mark J.Aff1, Aff11
Fatkin, DianeAff2, Aff11, Aff12
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):650-662
Czasopismo naukowe
Tytuł :
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer
Autorzy :
Leong, Tracy L.Aff1, Aff2
Gayevskiy, Velimir
Steinfort, Daniel P.Aff2, Aff4
De Massy, Marc R.
Gonzalez-Rajal, Alvaro
Marini, Kieren D.
Stone, EmilyAff6, Aff7
Chin, VenessaAff5, Aff8, Aff9
Havryk, AdrianAff7, Aff8
Plit, MarshallAff7, Aff8
Irving, Louis B.Aff2, Aff4
Jennings, Barton R.
McCloy, Rachael A.
Jayasekara, W. Samantha N.
Alamgeer, Muhammad
Boolell, Vishal
Field, AndrewAff8, Aff11
Russell, Prudence A.
Kumar, Beena
Gough, Daniel J.Aff6, Aff14
Szczepny, Anette
Ganju, VinodAff6, Aff14
Rossello, Fernando J.Aff15, Aff16
Cain, Jason E.Aff6, Aff14
Papenfuss, Anthony T.Aff17, Aff18, Aff19
Asselin-Labat, Marie-LiesseAff1, Aff2
Cowley, Mark J.Aff3, Aff8, Aff20
Watkins, D. NeilAff5, Aff7, Aff8, Aff9
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Źródło :
Oncogene. 38(10):1661-1675
Czasopismo naukowe
Tytuł :
Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
Autorzy :
Kirk, Edwin P.Aff1, Aff2, Aff3
Barlow-Stewart, Kristine
Selvanathan, Arthavan
Josephi-Taylor, SarahAff1, Aff3
Worgan, Lisa
Rajagopalan, Sulekha
Cowley, Mark J.
Gayevskiy, Velimir
Bittles, Alan
Burnett, Leslie
Elakis, George
Lo, William
Buckley, Michael
Colley, Alison
Roscioli, TonyAff1, Aff2, Aff9
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):608-612
Czasopismo naukowe
Tytuł :
Development and validation of a targeted gene sequencing panel for application to disparate cancers
Autorzy :
McCabe, Mark J.Aff1, Aff2, Aff3
Gauthier, Marie-Emilie A.Aff1, Aff4, Aff5
Chan, Chia-Ling
Thompson, Tanya J.
De Sousa, Sunita M.C.Aff6, Aff7, Aff8, Aff9
Puttick, Clare
Grady, John P.
Gayevskiy, Velimir
Tao, Jiang
Ying, Kevin
Cipponi, Arcadi
Deng, NiantaoAff3, Aff10
Swarbrick, Alex
Thomas, Melissa L.
Lord, Reginald V.Aff11, Aff14
Johns, Amber L.
Kohonen-Corish, MaijaAff10, Aff15, Aff16
O’Toole, Sandra A.Aff17, Aff18, Aff19, Aff20
Clark, JonathanAff4, Aff21, Aff22
Mueller, Simon A.Aff1, Aff4, Aff23
Gupta, RutaAff4, Aff21, Aff22
McCormack, Ann I.Aff2, Aff3, Aff24
Dinger, Marcel E.Aff1, Aff3
Cowley, Mark J.Aff1, Aff3, Aff5
Aff12, Aff13
Pokaż więcej
Źródło :
Scientific Reports. 9(1)
Czasopismo naukowe
Tytuł :
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia
Autorzy :
Kang, Ce
Liang, ChristinaAff2, Aff3
Ahmad, Kate E.Aff2, Aff3
Gu, YufanAff2, Aff3
Siow, Sue-FayeAff2, Aff3
Colebatch, James G.Aff4, Aff5
Whyte, Scott
Ng, Karl
Cremer, Philip D.
Corbett, Alastair J.
Davis, Ryan L.Aff1, Aff2
Roscioli, TonyAff4, Aff8
Cowley, Mark J.Aff9, Aff10
Park, Jin-SungAff2, Aff11
Sue, Carolyn M.Aff2, Aff3
Kumar, Kishore R.Aff2, Aff3, Aff9
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Źródło :
The Cerebellum. 18(1):137-146
Czasopismo naukowe
Tytuł :
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Autorzy :
Ewans, Lisa JAff1, Aff2
Schofield, DeborahAff2, Aff3, Aff4
Shrestha, Rupendra
Zhu, YingAff5, Aff6
Gayevskiy, Velimir
Ying, Kevin
Walsh, Corrina
Lee, Eric
Kirk, Edwin PAff6, Aff7, Aff8
Colley, Alison
Ellaway, CarolynAff7, Aff10
Turner, AnneAff7, Aff8
Mowat, DavidAff7, Aff8
Worgan, Lisa
Freckmann, Mary-LouiseAff7, Aff8
Lipke, MichelleAff7, Aff11
Sachdev, RaniAff7, Aff8
Miller, David
Field, Michael
Dinger, Marcel EAff1, Aff2
Buckley, Michael F
Cowley, Mark JAff1, Aff2
Roscioli, TonyAff6, Aff7, Aff12
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(12):1564-1574
Czasopismo naukowe

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