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Alejandro Sifrim
Alejandro Sifrim
Laboratory of Multi-omic Integrative Bioinformatics - Center of Human Genetics - KU Leuven
Verified email at kuleuven.be
Title
Cited by
Cited by
Year
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
12472018
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9012017
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
8212015
Large-scale discovery of novel genetic causes of developmental disorders
T Deciphering Developmental Disorders Study
Nature 519 (7542), 223-228, 2015
7482015
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
4072016
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
3192018
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
2762012
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
2712023
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
2622018
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
2072018
eXtasy: variant prioritization by genomic data fusion.
A Sifrim, D Popovic, LC Tranchevent, A Ardeshirdavani, R Sakai, ...
Nature Methods 10 (November), 1083-1084, 2013
1852013
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
1662015
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
1462018
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
1362020
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
1282017
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
962020
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
842013
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
832015
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
742020
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
672019
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