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Collagen signaling and matrix stiffness regulate multipotency in glandular epithelial stem cells in mice Jiang, Chen; Centonze, Alessia; Song, Yura; Chrisnandy, Antonius; Tika, Elisavet; Rezakhani, Saba; Zahedi, Zahra; Bouvencourt, Gaelle; Dubois, Christine; Van Keymeulen, Alexandra; Lutolf, Matthias; Sifrim, Alejandro; Blanpain, Cedric Share Save
Secreted Apoe rewires melanoma cell state vulnerability to ferroptosis More, Sanket; Bonnereau, Julie; Wouters, David; Spotbeen, Xander; Karras, Panagiotis; Rizzollo, Francesca; Killian, Theo; Venken, Tom; Naulaerts, Stefan; Vervoort, Ellen; Ganne, Maarten; Nittner, David; Verhoeven, Jelle; Bechter, Oliver; Bosisio, Francesca; Lambrechts, Diether; Sifrim, Alejandro; Stockwell, Brent R.; Swinnen, Johannes V.; Marine, Jean Christophe; Agostinis, Patrizia Share Save
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen Share Save
Adipose tissue macrophage dysfunction is associated with a breach of vascular integrity in NASH Boesch, Markus; Lindhorst, Andreas; Feio-Azevedo, Rita; Brescia, Paola; Silvestri, Alessandra; Lannoo, Matthias; Deleus, Ellen; Jaekers, Joris; Topal, Halit; Topal, Baki; Ostyn, Tessa; Wallays, Marie; Smets, Lena; Van Melkebeke, Lukas; Hartlova, Anetta; Roskams, Tania; Bedossa, Pierre; Verbeek, Jef; Govaere, Olivier; Francque, Sven; Sifrim, Alejandro; Voet, Thierry; Rescigno, Maria; Gericke, Martin; Korf, Hannelie; van der Merwe, Schalk Share Save
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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders Gardner, Eugene J.; Sifrim, Alejandro; Lindsay, Sarah J.; Prigmore, Elena; Rajan, Diana; Danecek, Petr; Gallone, Giuseppe; Eberhardt, Ruth Y.; Martin, Hilary C.; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen, V; Hurles, Matthew E. Share Save
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021) Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M. G.; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wunnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S.; Benson, D. Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers E. F.; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D.; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R.; Milewicz, Dianna M.; Lemaire, Scott; Coselli, Joseph S.; Mitchell, Michael E.; Tomita-Mitchell, Aoy; Prakash, Siddharth K.; Stamm, Karl; Stewart, Alexandre F. R.; Silversides, Candice K.; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A.; Vater, Inga; Postma, Alex V.; Caliebe, Almuth; Brook, J. David; Andelfinger, Gregor; Hurles, Matthew E.; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip Share Save
The contribution of X-linked coding variation to severe developmental disorders Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V.; Hurles, Matthew E. Share Save
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease Izarzugaza, Jose M. G.; Ellesoe, 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, Soren Share Save
Interstitial Cell Remodeling Promotes Aberrant Adipogenesis in Dystrophic Muscles Camps, Jordi; Breuls, Natacha; Sifrim, Alejandro; Giarratana, Nefele; Corvelyn, Marlies; Danti, Laura; Grosemans, Hanne; Vanuytven, Sebastiaan; Thiry, Irina; Belicchi, Marzia; Meregalli, Mirella; Platko, Khrystyna; MacDonald, Melissa E.; Austin, Richard C.; Gijsbers, Rik; Cossu, Giulio; Torrente, Yvan; Voet, Thierry; Sampaolesi, Maurilio Share Save
Contribution of retrotransposition to developmental disorders 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. Share Save
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders 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. Share Save
Early lineage segregation of multipotent embryonic mammary gland progenitors (vol 20, pg 666, 2018) Wuidart, Aline; Sifrim, Alejandro; Fioramonti, Marco; Matsumura, Shigeru; Brisebarre, Audrey; Brown, Daniel; Centonze, Alessia; Dannau, Anne; Dubois, Christine; Van Keymeulen, Alexandra; Voet, Thierry; Blanpain, Cedric Share Save
Early lineage segregation of multipotent embryonic mammary gland progenitors Wuidart, Aline; Sifrim, Alejandro; Fioramonti, Marco; Matsumura, Shigeru; Brisebarre, Audrey; Brown, Daniel; Centonze, Alessia; Dannau, Anne; Dubois, Christine; Van Keymeulen, Alexandra; Voet, Thierry; Blanpain, Cedric Share Save
Detection of structural mosaicism from targeted and whole-genome sequencing data 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. Share Save
Clinical and molecular consequences of disease-associated de novo mutations in SATB2 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; Nellaker, Christoffer; FitzPatrick, David R. Share Save
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Al Turki, Saeed H.; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W.; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M. M.; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J.; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P.; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H.; Park, Soo-Mi; Parker, Michael J.; Pickardt, Thomas; Pollard, Martin O.; Robert, Leema; Roberts, David J.; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E. F.; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mandi; Klaassen, Sabine; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Devriendt, Koenraad; FitzPatrick, David R.; Brook, J. David; Hurles, Matthew E. Share Save
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