| 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 | 507 | 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 | 480 | 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, 2017 | 389 | 2017 |
| Large-scale discovery of novel genetic causes of developmental disorders T Deciphering Developmental Disorders Study Nature 519 (7542), 223-228, 2015 | 374 | 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 | 201 | 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 | 188 | 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 | 150 | 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 | 139 | 2013 |
| 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 | 128 | 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), 1363-1369, 2015 | 104 | 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 | 84 | 2018 |
| 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 | 80 | 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), 1-25, 2013 | 69 | 2013 |
| Medusa: A tool for exploring and clustering biological networks GA Pavlopoulos, SD Hooper, A Sifrim, R Schneider, J Aerts BMC research notes 4 (1), 1-6, 2011 | 53 | 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 | 51 | 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 | 44 | 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), 1-12, 2012 | 35 | 2012 |
| 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 | 31 | 2017 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature communications 9 (1), 1-12, 2018 | 27 | 2018 |
| 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 | 27 | 2017 |
Yves MoreauUniversity of LeuvenVerified email at esat.kuleuven.be
