| 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 | 1318 | 2018 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 962 | 2017 |
| 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 | 855 | 2015 |
| Large-scale discovery of novel genetic causes of developmental disorders T Deciphering Developmental Disorders Study Nature 519 (7542), 223-228, 2015 | 783 | 2015 |
| Methods and applications for single-cell and spatial multi-omics K Vandereyken, A Sifrim, B Thienpont, T Voet Nature Reviews Genetics 24 (8), 494-515, 2023 | 427 | 2023 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 422 | 2016 |
| 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 | 330 | 2018 |
| 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 | 277 | 2012 |
| 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 | 271 | 2018 |
| 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 | 220 | 2018 |
| eXtasy: variant prioritization by genomic data fusion. A Sifrim, D Popovic, LC Tranchevent, A Ardeshirdavani, R Sakai, ... Nature Methods 10 (November), 1083-1084, 2013 | 188 | 2013 |
| 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), 1363-1369, 2015 | 171 | 2015 |
| Mechanisms of stretch-mediated skin expansion at single-cell resolution M Aragona, A Sifrim, M Malfait, Y Song, J Van Herck, S Dekoninck, ... Nature 584 (7820), 268-273, 2020 | 153 | 2020 |
| 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 | 149 | 2018 |
| 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 | 135 | 2017 |
| Heterotypic cell–cell communication regulates glandular stem cell multipotency A Centonze, S Lin, E Tika, A Sifrim, M Fioramonti, M Malfait, Y Song, ... Nature 584 (7822), 608-613, 2020 | 102 | 2020 |
| Unraveling genomic variation from next generation sequencing data GA Pavlopoulos, A Oulas, E Iacucci, A Sifrim, Y Moreau, R Schneider, ... BioData mining 6, 1-25, 2013 | 86 | 2013 |
| 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 | 85 | 2015 |
| Defining the design principles of skin epidermis postnatal growth S Dekoninck, E Hannezo, A Sifrim, YA Miroshnikova, M Aragona, ... Cell 181 (3), 604-620. e22, 2020 | 84 | 2020 |
| 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 | 74 | 2019 |
Cedric BlanpainDirector of the Laboratory of Stem Cells and CancerVerified email at ulb.be
