Alejandro Sifrim
Alejandro Sifrim
Laboratory of Multi-omic Integrative Bioinformatics - Center of Human Genetics - KU Leuven
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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, 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
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
eXtasy: variant prioritization by genomic data fusion.
A Sifrim, D Popovic, LC Tranchevent, A Ardeshirdavani, R Sakai, ...
Nature Methods 10 (November), 1083-1084, 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
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
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
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
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
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
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), 1-12, 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
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
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
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