|Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data|
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
|Identification of the tumour transition states occurring during EMT|
I Pastushenko, A Brisebarre, A Sifrim, M Fioramonti, T Revenco, ...
Nature 556 (7702), 463-468, 2018
|Prevalence and architecture of de novo mutations in developmental disorders|
DDD Study, JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, ...
Nature 542 (7642), 433-438, 2017
|Large-scale discovery of novel genetic causes of developmental disorders|
T Deciphering Developmental Disorders Study
Nature 519 (7542), 223-228, 2015
|Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome|
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
|Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing|
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SH Al Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
|eXtasy: variant prioritization by genomic data fusion.|
A Sifrim, D Popovic, LC Tranchevent, A Ardeshirdavani, R Sakai, ...
Nature Methods 10 (November), 1083-1084, 2013
|Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders|
CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ...
Genetics in Medicine 20 (10), 1216-1223, 2018
|De novo mutations in regulatory elements in neurodevelopmental disorders|
PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ...
Nature 555 (7698), 611-616, 2018
|Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families|
N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ...
Nature genetics 47 (11), 1363, 2015
|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
|Unraveling genomic variation from next generation sequencing data|
GA Pavlopoulos, A Oulas, E Iacucci, A Sifrim, Y Moreau, R Schneider, ...
BioData mining 6 (1), 13, 2013
|Early lineage segregation of multipotent embryonic mammary gland progenitors|
A Wuidart, A Sifrim, M Fioramonti, S Matsumura, A Brisebarre, D Brown, ...
Nature cell biology 20 (6), 666-676, 2018
|Medusa: A tool for exploring and clustering biological networks|
GA Pavlopoulos, SD Hooper, A Sifrim, R Schneider, J Aerts
BMC research notes 4 (1), 384, 2011
|Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type|
M Isrie, M Breuss, G Tian, AH Hansen, F Cristofoli, J Morandell, ...
The American Journal of Human Genetics 97 (6), 790-800, 2015
|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
|Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease|
A Sifrim, JKJ Van Houdt, LC Tranchevent, B Nowakowska, R Sakai, ...
Genome medicine 4 (9), 73, 2012
|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
|Clinical and molecular consequences of disease-associated de novo mutations in SATB2|
H Bengani, M Handley, M Alvi, R Ibitoye, M Lees, SA Lynch, W Lam, ...
Genetics in Medicine 19 (8), 900-908, 2017
|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