Results
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61.
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The ExAC browser: displaying reference data information from over 60 000 exomes. [electronic resource] by
- Karczewski, Konrad J
- Weisburd, Ben
- Thomas, Brett
- Solomonson, Matthew
- Ruderfer, Douglas M
- Kavanagh, David
- Hamamsy, Tymor
- Lek, Monkol
- Samocha, Kaitlin E
- Cummings, Beryl B
- Birnbaum, Daniel
- Daly, Mark J
- MacArthur, Daniel G
Producer: 20170615
In:
Nucleic acids research vol. 45
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62.
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Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. [electronic resource] by
- Quinlan, Kate G R
- Seto, Jane T
- Turner, Nigel
- Vandebrouck, Aurelie
- Floetenmeyer, Matthias
- Macarthur, Daniel G
- Raftery, Joanna M
- Lek, Monkol
- Yang, Nan
- Parton, Robert G
- Cooney, Gregory J
- North, Kathryn N
Producer: 20100527
In:
Human molecular genetics vol. 19
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63.
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Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. [electronic resource] by
- Reddy, Hemakumar M
- Hamed, Sherifa A
- Lek, Monkol
- Mitsuhashi, Satomi
- Estrella, Elicia
- Jones, Michael D
- Mahoney, Lane J
- Duncan, Anna R
- Cho, Kyung-Ah
- Macarthur, Daniel G
- Kunkel, Louis M
- Kang, Peter B
Producer: 20170703
In:
Muscle & nerve vol. 54
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64.
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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. [electronic resource] by
- Schofield, Deborah
- Alam, Khurshid
- Douglas, Lyndal
- Shrestha, Rupendra
- MacArthur, Daniel G
- Davis, Mark
- Laing, Nigel G
- Clarke, Nigel F
- Burns, Joshua
- Cooper, Sandra T
- North, Kathryn N
- Sandaradura, Sarah A
- O'Grady, Gina L
Publication details: NPJ genomic medicine 2017
In:
NPJ genomic medicine vol. 2
Availability: No items available.
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65.
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Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. [electronic resource] by
- Lo, Harriet P
- Cooper, Sandra T
- Evesson, Frances J
- Seto, Jane T
- Chiotis, Maria
- Tay, Valerie
- Compton, Alison G
- Cairns, Anita G
- Corbett, Alistair
- MacArthur, Daniel G
- Yang, Nan
- Reardon, Katrina
- North, Kathryn N
Producer: 20080520
In:
Neuromuscular disorders : NMD vol. 18
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66.
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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. [electronic resource] by
- Riley, Lisa G
- Waddell, Leigh B
- Ghaoui, Roula
- Evesson, Frances J
- Cummings, Beryl B
- Bryen, Samantha J
- Joshi, Himanshu
- Wang, Min-Xia
- Brammah, Susan
- Kritharides, Leonard
- Corbett, Alastair
- MacArthur, Daniel G
- Cooper, Sandra T
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
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67.
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Impaired immune response to vaccinia virus inoculated at the site of cutaneous allergic inflammation. [electronic resource] by
- Scott, Jordan E
- ElKhal, Abdallah
- Freyschmidt, Eva-Jasmin
- MacArthur, Daniel H
- McDonald, Douglas
- Howell, Michael D
- Leung, Donald Y M
- Laouar, Amale
- Manjunath, N
- Bianchi, Teresa
- Boes, Marianne
- Oettgen, Hans C
- Geha, Raif S
Producer: 20080122
In:
The Journal of allergy and clinical immunology vol. 120
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68.
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The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. [electronic resource] by
- Grimm, Dominik G
- Azencott, Chloé-Agathe
- Aicheler, Fabian
- Gieraths, Udo
- MacArthur, Daniel G
- Samocha, Kaitlin E
- Cooper, David N
- Stenson, Peter D
- Daly, Mark J
- Smoller, Jordan W
- Duncan, Laramie E
- Borgwardt, Karsten M
Producer: 20160112
In:
Human mutation vol. 36
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69.
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Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. [electronic resource] by
- Xue, Yali
- Wang, Qiuju
- Long, Quan
- Ng, Bee Ling
- Swerdlow, Harold
- Burton, John
- Skuce, Carl
- Taylor, Ruth
- Abdellah, Zahra
- Zhao, Yali
- MacArthur, Daniel G
- Quail, Michael A
- Carter, Nigel P
- Yang, Huanming
- Tyler-Smith, Chris
Producer: 20100212
In:
Current biology : CB vol. 19
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70.
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matchbox: An open-source tool for patient matching via the Matchmaker Exchange. [electronic resource] by
- Arachchi, Harindra
- Wojcik, Monica H
- Weisburd, Benjamin
- Jacobsen, Julius O B
- Valkanas, Elise
- Baxter, Samantha
- Byrne, Alicia B
- O'Donnell-Luria, Anne H
- Haendel, Melissa
- Smedley, Damian
- MacArthur, Daniel G
- Philippakis, Anthony A
- Rehm, Heidi L
Producer: 20191007
In:
Human mutation vol. 39
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71.
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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. [electronic resource] by
- Estrada, Karol
- Whelan, Christopher W
- Zhao, Fengmei
- Bronson, Paola
- Handsaker, Robert E
- Sun, Chao
- Carulli, John P
- Harris, Tim
- Ransohoff, Richard M
- McCarroll, Steven A
- Day-Williams, Aaron G
- Greenberg, Benjamin M
- MacArthur, Daniel G
Producer: 20181211
In:
Nature communications vol. 9
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72.
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ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. [electronic resource] by
- Seto, Jane T
- Quinlan, Kate G R
- Lek, Monkol
- Zheng, Xi Fiona
- Garton, Fleur
- MacArthur, Daniel G
- Hogarth, Marshall W
- Houweling, Peter J
- Gregorevic, Paul
- Turner, Nigel
- Cooney, Gregory J
- Yang, Nan
- North, Kathryn N
Producer: 20131126
In:
The Journal of clinical investigation vol. 123
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73.
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. [electronic resource] by
- Harris, Elizabeth
- Topf, Ana
- Barresi, Rita
- Hudson, Judith
- Powell, Helen
- Tellez, James
- Hicks, Debbie
- Porter, Anna
- Bertoli, Marta
- Evangelista, Teresinha
- Marini-Betollo, Chiara
- Magnússon, Ólafur
- Lek, Monkol
- MacArthur, Daniel
- Bushby, Kate
- Lochmüller, Hanns
- Straub, Volker
Producer: 20180521
In:
Orphanet journal of rare diseases vol. 12
Availability: No items available.
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74.
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Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. [electronic resource] by
- Xue, Yali
- Zhang, Xuelong
- Huang, Ni
- Daly, Allan
- Gillson, Christopher J
- Macarthur, Daniel G
- Yngvadottir, Bryndis
- Nica, Alexandra C
- Woodwark, Cara
- Chen, Yuan
- Conrad, Donald F
- Ayub, Qasim
- Mehdi, S Qasim
- Li, Pu
- Tyler-Smith, Chris
Producer: 20100415
In:
Genetics vol. 183
Availability: No items available.
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75.
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Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. [electronic resource] by
- Seto, Jane T
- Lek, Monkol
- Quinlan, Kate G R
- Houweling, Peter J
- Zheng, Xi F
- Garton, Fleur
- MacArthur, Daniel G
- Raftery, Joanna M
- Garvey, Sean M
- Hauser, Michael A
- Yang, Nan
- Head, Stewart I
- North, Kathryn N
Producer: 20111214
In:
Human molecular genetics vol. 20
Availability: No items available.
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76.
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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. [electronic resource] by
- Sergouniotis, Panagiotis I
- Chakarova, Christina
- Murphy, Cian
- Becker, Mirjana
- Lenassi, Eva
- Arno, Gavin
- Lek, Monkol
- MacArthur, Daniel G
- Bhattacharya, Shomi S
- Moore, Anthony T
- Holder, Graham E
- Robson, Anthony G
- Wolfrum, Uwe
- Webster, Andrew R
- Plagnol, Vincent
Producer: 20140627
In:
American journal of human genetics vol. 94
Availability: No items available.
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77.
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Genetic regulatory variation in populations informs transcriptome analysis in rare disease. [electronic resource] by
- Mohammadi, Pejman
- Castel, Stephane E
- Cummings, Beryl B
- Einson, Jonah
- Sousa, Christina
- Hoffman, Paul
- Donkervoort, Sandra
- Jiang, Zhuoxun
- Mohassel, Payam
- Foley, A Reghan
- Wheeler, Heather E
- Im, Hae Kyung
- Bonnemann, Carsten G
- MacArthur, Daniel G
- Lappalainen, Tuuli
Producer: 20200406
In:
Science (New York, N.Y.) vol. 366
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78.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. [electronic resource] by
- Walsh, Roddy
- Thomson, Kate L
- Ware, James S
- Funke, Birgit H
- Woodley, Jessica
- McGuire, Karen J
- Mazzarotto, Francesco
- Blair, Edward
- Seller, Anneke
- Taylor, Jenny C
- Minikel, Eric V
- MacArthur, Daniel G
- Farrall, Martin
- Cook, Stuart A
- Watkins, Hugh
Producer: 20171211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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79.
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Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people. [electronic resource] by
- Finer, Sarah
- Martin, Hilary C
- Khan, Ahsan
- Hunt, Karen A
- MacLaughlin, Beverley
- Ahmed, Zaheer
- Ashcroft, Richard
- Durham, Ceri
- MacArthur, Daniel G
- McCarthy, Mark I
- Robson, John
- Trivedi, Bhavi
- Griffiths, Chris
- Wright, John
- Trembath, Richard C
- van Heel, David A
Producer: 20200617
In:
International journal of epidemiology vol. 49
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80.
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. [electronic resource] by
- Johnson, Katherine
- Töpf, Ana
- Bertoli, Marta
- Phillips, Lauren
- Claeys, Kristl G
- Stojanovic, Vidosava Rakocevic
- Perić, Stojan
- Hahn, Andreas
- Maddison, Paul
- Akay, Ela
- Bastian, Alexandra E
- Łusakowska, Anna
- Kostera-Pruszczyk, Anna
- Lek, Monkol
- Xu, Liwen
- MacArthur, Daniel G
- Straub, Volker
Producer: 20180720
In:
Orphanet journal of rare diseases vol. 12
Availability: No items available.
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