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Raheleh Rahbari
Raheleh Rahbari
Wellcome Sanger Institute
Verified email at sanger.ac.uk - Homepage
Title
Cited by
Cited by
Year
Timing, rates and spectra of human germline mutation
R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ...
Nature genetics 48 (2), 126-133, 2016
9092016
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
The mutational landscape of normal human endometrial epithelium
L Moore, D Leongamornlert, THH Coorens, MA Sanders, P Ellis, ...
Nature 580 (7805), 640-646, 2020
3862020
Somatic mutation landscapes at single-molecule resolution
F Abascal, LMR Harvey, E Mitchell, ARJ Lawson, SV Lensing, P Ellis, ...
Nature 593 (7859), 405-410, 2021
2962021
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo
YS Ju, I Martincorena, M Gerstung, M Petljak, LB Alexandrov, R Rahbari, ...
Nature 543 (7647), 714-718, 2017
2782017
A novel L1 retrotransposon marker for HeLa cell line identification
R Rahbari, T Sheahan, V Modes, P Collier, C Macfarlane, RM Badge
Biotechniques 46 (4), 277-284, 2009
2412009
The mutational landscape of human somatic and germline cells
L Moore, A Cagan, THH Coorens, MDC Neville, R Sanghvi, MA Sanders, ...
Nature 597 (7876), 381-386, 2021
2102021
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Inherent mosaicism and extensive mutation of human placentas
THH Coorens, TRW Oliver, R Sanghvi, U Sovio, E Cook, R Vento-Tormo, ...
Nature 592 (7852), 80-85, 2021
1482021
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1272017
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases
PS Robinson, THH Coorens, C Palles, E Mitchell, F Abascal, S Olafsson, ...
Nature genetics 53 (10), 1434-1442, 2021
1062021
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes
VM Narasimhan, R Rahbari, A Scally, A Wuster, D Mason, Y Xue, J Wright, ...
Nature communications 8 (1), 303, 2017
1022017
Extensive phylogenies of human development inferred from somatic mutations
THH Coorens, L Moore, PS Robinson, R Sanghvi, J Christopher, ...
Nature 597 (7876), 387-392, 2021
982021
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
962018
Convergent somatic mutations in metabolism genes in chronic liver disease
SWK Ng, FJ Rouhani, SF Brunner, N Brzozowska, SJ Aitken, M Yang, ...
Nature 598 (7881), 473-478, 2021
942021
Similarities and differences in patterns of germline mutation between mice and humans
SJ Lindsay, R Rahbari, J Kaplanis, T Keane, ME Hurles
Nature communications 10 (1), 4053, 2019
802019
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
662019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
582019
Detection of structural mosaicism from targeted and whole-genome sequencing data
DA King, A Sifrim, TW Fitzgerald, R Rahbari, E Hobson, T Homfray, ...
Genome research 27 (10), 1704-1714, 2017
522017
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ...
BioRxiv, 049056, 2016
512016
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