TrioVis: a visualization approach for filtering genomic variants of parent–child trios

Por Sakai, Ryo, Sifrim, Alejandro, Vande Moere, Andrew, Aerts, Jan
Publicado em 2013

Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case

Por Popovic, Dusan, Sifrim, Alejandro, Davis, Jesse, Moreau, Yves, De Moor, Bart
Publicado no BMC Bioinformatics (2015)

Medusa: A tool for exploring and clustering biological networks

Por Pavlopoulos, Georgios A, Hooper, Sean D, Sifrim, Alejandro, Schneider, Reinhard, Aerts, Jan
Publicado em 2011

Recent advances in congenital heart disease genomics

Por Wilsdon, Anna, Sifrim, Alejandro, Hitz, Marc-Phillip, Hurles, Matthew, Brook, J. David
Publicado no F1000Res (2017)

Beegle: from literature mining to disease-gene discovery

Por ElShal, Sarah, Tranchevent, Léon-Charles, Sifrim, Alejandro, Ardeshirdavani, Amin, Davis, Jesse, Moreau, Yves
Publicado no Nucleic Acids Res (2016)

Unraveling genomic variation from next generation sequencing data

Por Pavlopoulos, Georgios A, Oulas, Anastasis, Iacucci, Ernesto, Sifrim, Alejandro, Moreau, Yves, Schneider, Reinhard, Aerts, Jan, Iliopoulos, Ioannis
Publicado em 2013

Meander: visually exploring the structural variome using space-filling curves

Por Pavlopoulos, Georgios A., Kumar, Parveen, Sifrim, Alejandro, Sakai, Ryo, Lin, Meng Lay, Voet, Thierry, Moreau, Yves, Aerts, Jan
Publicado em 2013

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Por Sifrim, Alejandro, Van Houdt, Jeroen KJ, Tranchevent, Leon-Charles, Nowakowska, Beata, Sakai, Ryo, Pavlopoulos, Georgios A, Devriendt, Koen, Vermeesch, Joris R, Moreau, Yves, Aerts, Jan
Publicado em 2012

Early lineage segregation of multipotent embryonic mammary gland progenitors

Por Wuidart, Aline, Sifrim, Alejandro, Fioramonti, Marco, Matsumura, Shigeru, Brisebarre, Audrey, Brown, Daniel, Centonze, Alessia, Dannau, Anne, Dubois, Christine, Van Keymeulen, Alexandra, Voet, Thierry, Blanpain, Cédric
Publicado no Nat Cell Biol (2018)

Detection of structural mosaicism from targeted and whole-genome sequencing data

Por King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E., Vasudevan, Pradeep C., Hurles, Matthew E.
Publicado no Genome Res (2017)

Defining the Design Principles of Skin Epidermis Postnatal Growth

Por Dekoninck, Sophie, Hannezo, Edouard, Sifrim, Alejandro, Miroshnikova, Yekaterina A., Aragona, Mariaceleste, Malfait, Milan, Gargouri, Souhir, de Neunheuser, Charlotte, Dubois, Christine, Voet, Thierry, Wickström, Sara A., Simons, Benjamin D., Blanpain, Cédric
Publicado no Cell (2020)

De novo mutations in regulatory elements in neurodevelopmental disorders

Por Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V, FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Publicado no Nature (2018)

Mechanisms of stretch-mediated skin expansion at single-cell resolution

Por Aragona, Mariaceleste, Sifrim, Alejandro, Malfait, Milan, Song, Yura, Van Herck, Jens, Dekoninck, Sophie, Gargouri, Souhir, Lapouge, Gaèlle, Swedlund, Benjamin, Dubois, Christine, Baatsen, Pieter, Vints, Katlijn, Han, Seungmin, Tissir, Fadel, Voet, Thierry, Simons, Benjamin D., Blanpain, Cédric
Publicado no Nature (2020)

Heterotypic cell–cell communication regulates glandular stem cell multipotency

Por Centonze, Alessia, Lin, Shuheng, Tika, Elisavet, Sifrim, Alejandro, Fioramonti, Marco, Malfait, Milan, Song, Yura, Wuidart, Aline, Herck, Jens Van, Dannau, Anne, Bouvencourt, Gaelle, Dubois, Christine, Dedoncker, Nina, Sahay, Amar, de Maertelaer, Viviane, Siebel, Christian W., Van Keymeulen, Alexandra, Voet, Thierry, Blanpain, Cèdric
Publicado no Nature (2020)

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Por Izarzugaza, Jose M. G., Ellesøe, Sabrina G., Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D., Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J. David, Hitz, Marc-Phillip, Larsen, Lars A., Brunak, Søren
Publicado no Genome Med (2020)

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

Por Wright, Caroline F., McRae, Jeremy F., Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W., Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J., Barrett, Jeffrey C., Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Publicado no Genet Med (2018)

Contribution of retrotransposition to developmental disorders

Por Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado no Nat Commun (2019)

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Por Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Publicado no Am J Hum Genet (2015)

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Por Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Publicado no Genet Med (2017)

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Por Wright, Caroline F, Fitzgerald, Tomas W, Jones, Wendy D, Clayton, Stephen, McRae, Jeremy F, van Kogelenberg, Margriet, King, Daniel A, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Bevan, A Paul, Bragin, Eugene, Chatzimichali, Eleni A, Gribble, Susan, Jones, Philip, Krishnappa, Netravathi, Mason, Laura E, Miller, Ray, Morley, Katherine I, Parthiban, Vijaya, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Swaminathan, G Jawahar, Tivey, Adrian R, Middleton, Anna, Parker, Michael, Carter, Nigel P, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Publicado no Lancet (2015)