Concepedia
Statistics
Publications
10
Citations
969
H-Index
Active since
1987
Affiliations
Wellcome Sanger Institute(Current)
St James's University Hospital
University of Cambridge
Sheffield Children's NHS Foundation Trust
Guy's and St Thomas' NHS Foundation Trust
Nicola Roberts is an author at Wellcome Sanger Institute specializing in life sciences, genetics, and neurogenetics.
Publications per year
1987–2024
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text
Life Sciences, Genetics, Neuroscience +17
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Ghayda Mirzaa, David Parry, Andrew E. Fry et al. · Nature Genetics · 2014 · 151 citations · Full text
Life Sciences, Genetics, Molecular Biology +10
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
Kate Baker, Sarah L. Gordon, Detelina Grozeva et al. · Journal of Clinical Investigation · 2015 · 97 citations · Full text
Life Sciences, Neurobiology, Neuroscience +17
NBS1 is involved in DNA repair and plays a synergistic role with ATM in mediating meiotic homologous recombination in plants
Wanda M. Waterworth, Cagla Altun, Susan J. Armstrong et al. · The Plant Journal · 2007 · 93 citations · Full text
Life Sciences, Genetics, Plant Biology +16
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki et al. · The American Journal of Human Genetics · 2016 · 86 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
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