Paediatric genomics: diagnosing rare disease in children
Wright, Caroline F, FitzPatrick, David R, Firth, Helen V
Published in Nature reviews. Genetics (01.05.2018)
Published in Nature reviews. Genetics (01.05.2018)
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Journal Article
Variant detection sensitivity and biases in whole genome and exome sequencing
Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Published in BMC bioinformatics (19.07.2014)
Published in BMC bioinformatics (19.07.2014)
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Journal Article
The genetic architecture of microphthalmia, anophthalmia and coloboma
Williamson, Kathleen A, FitzPatrick, David R
Published in European journal of medical genetics (01.08.2014)
Published in European journal of medical genetics (01.08.2014)
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Journal Article
Orientation selectivity and the functional clustering of synaptic inputs in primary visual cortex
Wilson, Daniel E, Whitney, David E, Scholl, Benjamin, Fitzpatrick, David
Published in Nature neuroscience (01.08.2016)
Published in Nature neuroscience (01.08.2016)
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Journal Article
Local Order within Global Disorder: Synaptic Architecture of Visual Space
Scholl, Benjamin, Wilson, Daniel E., Fitzpatrick, David
Published in Neuron (Cambridge, Mass.) (06.12.2017)
Published in Neuron (Cambridge, Mass.) (06.12.2017)
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Journal Article
The genetic architecture of aniridia and Gillespie syndrome
Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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Journal Article
De novo mutations in regulatory elements in neurodevelopmental disorders
Short, Patrick J, McRae, Jeremy F, Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H, Wright, Caroline F, Firth, Helen V, FitzPatrick, David R, Barrett, Jeffrey C, Hurles, Matthew E
Published in Nature (London) (29.03.2018)
Published in Nature (London) (29.03.2018)
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Journal Article
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, Mari E K, Martin, Hilary C, Rice, Daniel L, Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J, Yu, Sui, Gecz, Jozef, Martin, Nicholas G, Wright, Caroline F, Fitzpatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C
Published in Nature (London) (01.10.2018)
Published in Nature (London) (01.10.2018)
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Journal Article
Proteome and allergenome of the European house dust mite Dermatophagoides pteronyssinus
Waldron, Rose, McGowan, Jamie, Gordon, Natasha, McCarthy, Charley, Mitchell, E Bruce, Fitzpatrick, David A
Published in PloS one (01.05.2019)
Published in PloS one (01.05.2019)
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Journal Article
A fungal phylogeny based on 42 complete genomes derived from supertree and combined gene analysis
Fitzpatrick, David A, Logue, Mary E, Stajich, Jason E, Butler, Geraldine
Published in BMC evolutionary biology (22.11.2006)
Published in BMC evolutionary biology (22.11.2006)
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Journal Article
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Wright, Caroline F, McRae, Jeremy F, Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W, Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Olley, Gabrielle, Pradeepa, Madapura M., Grimes, Graeme R., Piquet, Sandra, Polo, Sophie E., FitzPatrick, David R., Bickmore, Wendy A., Boumendil, Charlene
Published in Nature communications (25.05.2021)
Published in Nature communications (25.05.2021)
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Journal Article
Universally distributed single-copy genes indicate a constant rate of horizontal transfer
Creevey, Christopher J, Doerks, Tobias, Fitzpatrick, David A, Raes, Jeroen, Bork, Peer
Published in PloS one (05.08.2011)
Published in PloS one (05.08.2011)
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Journal Article