Publications

*indicates publications with two or more network members

 

2025 | 2024 |2023 | 2022 | 

 

2025

*Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N Chaudhry, Sylvia N Michki, Jocelynda Salvador, M. Luisa Iruela-Arispe, Jarod A Zepp, Saikat Mukhopadhyay, Ondine Cleaver. 2025. Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development. Dev Dyn. PMID: 40055935. 

2024

Salim Abdelilah-Seyfried, Roxana Ola. Shear stress and pathophysiological PI3K involvement in vascular malformations. J Clin Invest. 2024 May 15;134(10):e172843. doi: 10.1172/JCI172843. PMID: 38747293; PMCID: PMC11093608.

Chaker Aloui, Lisa Neumann, Françoise Bergametti, Eric Sartori, Marc Herbreteau, Arnaud Maillard, Thibault Coste, Hélène Morel, Dominique Hervé, Hugues Chabriat, Serge Timsit, Irina Viakhireva, Yves Denoyer, Rémi Allibert, Florence Demurger, Cedric Gollion, Patrick Vermersch, Florence Marchelli, Corinne Blugeon, Sophie Lemoine, Claire Tourtier-Bellosta, Alexis Brouazin, Anne-Louise Leutenegger, Eva Pipiras, Elisabeth Tournier-Lasserve. An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease. JAMA Netw Open. 2024 Apr 1;7(4):e247034. doi: 10.1001/jamanetworkopen.2024.7034. PMID: 38630472; PMCID: PMC11024774.

Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M. Repetto, Kathelijn Keymolen, Laurence M. Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves, Katie Riches, Vaughan Keeley, Sahar Mansour, Kristiana Gordon, Silvia Martin-Almedina, Sara Dobbins, Pia Ostergaard, Isabelle Quere, Pascal Brouillard, Miikka Vikkula. Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Hum Mol Genet.  2024 Jul 6;33(14):1250-1261. doi: 10.1093/hmg/ddae060. PMID: 38676400; PMCID: PMC11227619.

Pascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, Marko Hyytiäinen, Sandrine Mestre, Lucas Potier, Laurence M. Boon, Nicole Revencu, Arin Greene, Andrey Anisimov, Miia H. Salo, Reetta Hinttala, Lauri Eklund, Isabelle Quéré, Kari Alitalo, Miikka Vikkula. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema. J Clin Invest. 2024 May 30;134(14):e173586. doi: 10.1172/JCI173586. PMID: 38820174; PMCID: PMC11245153.

*Martina De Bortoli, Angela Queisser, Van Cuong Pham, Anne Dompmartin, Raphael Helaers, Simon Boutry, Cathy Claus, An-Katried De Roo, Frank Hammer, Pascal Brouillard, Salim Abdelilah-Seyfried, Laurence M. Boon, Miikka Vikkula. Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). Journal of Investigative Dermatology. J Invest Dermatol. 2024 Feb 29:S0022-202X(24)00164-7. Epub ahead of print. PMID: 38431221.

Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. Am J Med Genet A. 2024 Feb 6:e63551. Epub ahead of print. PMID: 38321651.

Stephanie Frenz-Weissner, …, Kirill Salewskij, Gustav Jonsson, …, Josef M. Penninger, …, Christoph Klein. Generation of complex bone marrow organoids from human induced pluripotent stem cells. Nat Methods. 2024 Feb 19. Epub ahead of print. PMID: 38374263.

Francesca Lazzaroni, …, Nastasja Grdseloff, Claudia J. Rödel, …, Salim Abdelilah-Seyfried, …, Roberto Latini. Circulating biomarkers in familial cerebral cavernous malformation. EBioMedicine. 2024 Jan;99:104914. Epub 2023 Dec 18. PMID: 38113759. PMCID: PMC10767159.

*Milagros Romay, …, Ana Mompeón, …, Jocelynda Salvador, …, Elisabeth Tournier‑Lasserve, …, M. Luisa Iruela-Arispe. Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice. JCI. 2024 Jan;134(2):e166134. PMID: 38015629. PMCID: PMC10786701.

Mariaelena Valentino, Matteo Malinverno, Claudio Maderna, Van-Cuong Pham, Claudia Rödel, Federica Zanardi, Maximiliano Arce, Lorenzo Drufuca, Grazisa Rossetti, Peetra Magnusson, Maria Grazia Lampugnani, Elisabetta Dejana, Salim Abdelilah-Seyfried, Massimiliano Pagani. BMI1 inhibition improves lesion burden in cerebral cavernous malformations. Circulation. 2024. In press.

 

2023

*Yalda Afshar, Feiyang Ma, Austin Quach, Anhyo Jeong, Hannah L. Sunshine, Vanessa Freitas, Yasaman Jami-Alahmadi, Raphael Helaers, Xinmin Li, Matteo Pellegrini, James A. Wohlschlegel, Casey E. Romanoski, Miikka Vikkula, M. Luisa Iruela-Arispe. Transcriptional drifts associated with environmental changes in endothelial cells. Elife. 2023 Mar;12:e81370. doi: 10.7554/eLife.81370. PMID: 36971339. PMCID: PMC10168696.

Murat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, Guido Giacalone, Raphaël Helaers, Salma Adham, Hélène Kovacsik, Sophie Guillemard, Erick Mercier, Laurence Boon, Nicole Revencu, Pascal Brouillard, Isabelle Quere, Vikkula Miikka. Ureteropelvic junction obstruction with primary lymphedema associated with celsr1 variants. J Med Genet. 2023 May;jmg-2023-109171. doi: 10.1136/jmg-2023-109171. Epub ahead of print. PMID: 37225411.

Haley R Barlow, Neha Ahuja, Tyler Bierschenk, Yadanar Htike, Luke Fassetta, D Berfin Azizoglu, Juan Flores, Nan Gao, Sean De la O, Julie B Sneddon, Denise K Marciano, Ondine Cleaver. Rab11 is essential to pancreas morphogenesis, lumen formation and endocrine mass. Dev Biol. 2023 Jul;499:59-74. doi: 10.1016/j.ydbio.2023.05.002. Epub 2023 May 10. PMID: 37172642.

Riley A Cooney, Maxwell L Saal, Kara P Geraci, Caitlin Maynard, Ondine Cleaver, Oanh N Hoang, Todd T Moore, Rosa F Hwang, Jeffrey D. Axelrod, Eszter K. Vladar. A WNT4- and DKK3-driven canonical to noncanonical Wnt signaling switch controls multiciliogenesis. J Cell Sci. 2023 Aug 15;136(16):jcs260807. doi: 10.1242/jcs.260807. Epub 2023 Aug 29. PMID: 37505110; PMCID: PMC10482387.

Shane J. F. Cronin, Lance S. Davidow, Anthony C. Arvanites, Lee L. Rubin, Josef M. Penninger, Clifford J. Woolf. Implementation of a Drug Screening Platform to TargetGch1 Expression in Injured Mouse Dorsal Root Ganglion Neurons. Bio Protoc. 2023 May 5;13(9):e4666. doi: 10.21769/BioProtoc.4666. PMID: 37188109; PMCID: PMC10176205.

Jan Gehlen,...., Dinara Sharipova, …, Salim Abdelilah-Seyfried, …, Johannes Schumacher. Elucidation of the genetic causes of bicuspid aortic valve disease. Cardiovasc Res. 2023 May 2;119(3):857-866. PMID: 35727948. PMCID: PMC10153415.

*Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné R Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried. Impaired retinoic acid signaling in cerebral cavernous malformations. Scientific Reports. 2023;13(1):5572. doi: 10.1038/s41598-023-31905-0.

Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve. Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. PMID: 36941667; PMCID: PMC10026487.

Chitkale Hiremath, Lei Gao, Kenya Geshow, Quinten Patterson, Haley Barlow, Ondine Cleaver, Denise K Marciano. Rap1 regulates lumen continuity via Afadin in renal epithelia. Dev Biol. 2023 Sep;501:20-27. doi: 10.1016/j.ydbio.2023.05.003. Epub 2023 Jun 3. PMID: 37276970; PMCID: PMC10460627.

Nagesha Guthalu Kondegowda, Joanna Filipowska, Jeong-Su Do, Nancy Leon-Rivera, Rosemary Li, Rollie Hampton, Selassie Ogyaadu, Camilla Levister, Josef M. Penninger, Helena Reijonen, Carol J. Levy, Rupangi C. Vasavada. RANKL/RANK is required for cytokine-induced beta cell death; osteoprotegerin, a RANKL inhibitor, reverses rodent type 1 diabetes. Sci Adv. 2023 Nov 3;9(44):eadf5238. doi: 10.1126/sciadv.adf5238. Epub 2023 Nov 1. PMID: 37910614; PMCID: PMC10619938.

Mauro Lecca, …, Thibault Coste, …, Elisabeth Tournier-Lasserve, …, Edoardo Errichiello. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. PMID: 36996813; PMCID: PMC10119151

Peter M. Luo, Xiaowu Gu, Christopher Chaney, Thomas Carroll, Ondine Ondine. Stromal netrin-1 coordinates renal arteriogenesis and mural cell differentiation. Development. 2023 Oct 12:dev.201884. doi: 10.1242/dev.201884. Epub ahead of print. PMID: 37823339.

Barizah Malik, Iva Vokic, Thomas Mohr, Marle Poppelaars, Martin Holcmann, Philipp Novoszel, Gerald Timelthaler, Timelthaler Lendl, Dana Krauss, Ulrich Elling, Michael Mildner, Josef M. Penninger, Peter Petzelbauer, Maria Sibilia, Agnes Csiszar. FAM3C/ILEI protein is elevated in psoriatic lesions and triggers psoriasiform hyperproliferation in mice. EMBO Mol Med. 2023 Jul 10;15(7):e16758. doi: 10.15252/emmm.202216758. Epub 2023 May 25. PMID: 37226685; PMCID: PMC10331587.

Vanessa Monteil, …, Gustav Jonsson, …, Josef M. Penninger, Ali Mirazimi. Identification of CCZ1 as an essential lysosomal trafficking regulator in Marburg and Ebola virus infections. Nat Commun. 2023 Oct 25;14(1):6785. doi: 10.1038/s41467-023-42526-6. PMID: 37880247; PMCID: PMC10600203.

Masahiro Onji, Josef M. Penninger. RANKL and RANK in Cancer Therapy. Physiology (Bethesda). 2023 May 1;38(3):0. doi: 10.1152/physiol.00020.2022. Epub 2022 Dec 6. PMID: 36473204.

Yu Onodera, …, Josef M Penninger, …, Haibo Zhang. Inhalation of ACE2 as a therapeutic target on sex-bias differences in SARS-CoV-2 infection and variant of concern. iScience. 2023 Jul 25;26(8):107470. doi: 10.1016/j.isci.2023.107470. PMID: 37609639; PMCID: PMC10440513.

Alessio Paolini, Dinara Sharipova, Tim Lange, Seyfried Abdelilah-Seyfried. Wnt9 directs zebrafish heart tube assembly via a combination of canonical and non-canonical pathway signaling. Development. 2023 Sep 15;150(18):dev201707. doi: 10.1242/dev.201707. Epub 2023 Sep 25. Erratum in: Development. 2023 Nov 1;150(21): PMID: 37680191; PMCID: PMC10560569.

Amélie Pinard, …, Elisabeth Tournier-Lasserve, …, Dianna M. Milewicz. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Erratum in: Brain. 2023 Aug 18. PMID: 37253099; PMCID: PMC10473557.

Emmanuel Seront, Jean Marc Biard, An Van Damme, Nicole Revencu, Benoit Lengelé, Sandra Schmitz, Caroline de Toeuf, Philippe Clapuyt, Fancis Veyckemans, Caroline Prégardien, Miikka Vikkula, Pierre Bernard, Laurence M. Boon. A case report of sirolimus use in early fetal management of lymphatic malformation. Nat Cardiovasc Res. 2023 Jun; 2, 595–599. doi: 10.1038/s44161-023-00280-4.

Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Thomas Funck-Brentano, Marie-Antoinette Sevestre, Anne Dompmartin, Isabelle Quere, Pascal Brouillard, Nicole Revencu, Martina De Bortoli, Frank Hammer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. PMID: 37937645.

Busa Turgu, Amal El-Naggar, Melanie Kogler, Luigi Tortola, Han-Feng Zhang, Mariam Hassan, Michael M. Lizardo, Sonia Hy Kung, Wan Lam, Josef M. Penninger, Poul H. Sorensen. The HACE1 E3 ligase mediates RAC1-dependent control of mTOR signaling complexes. EMBO Rep. 2023 Oct 17:e56815. doi: 10.15252/embr.202356815. Epub ahead of print. PMID: 37846480.

Viviana L. Vedder, Tobias Reinberger, Syed M.I. Haider, Luis Eichelmann, Nadine Odenthal, Salim Abdelilah-Seyfried, Zouhair Aherrahrou, Maximilian Breuer, Jeanette Erdmann. pyHeart4Fish: Chamber-specific heart phenotype quantification of zebrafish in high-content screens. Front Cell Dev Biol. 2023 Apr 11;11:1143852. doi: 10.3389/fcell.2023.1143852. PMID: 37113769; PMCID: PMC10126419.

Ilio Vitale, …, Josef M. Penninger, …, Lorenzo Galluzzi. Apoptotic cell death in disease-Current understanding of the NCCD 2023. Cell Death Differ. 2023 May;30(5):1097-1154. doi: 10.1038/s41418-023-01153-w. Epub 2023 Apr 26. PMID: 37100955; PMCID: PMC10130819.

Kaiming Wang, Mobin Khoramjoo, Karthik Srinivasan, Paul M.K. Gordon, Rupasri Mandal, Dana Jackson, Wendy Sligl, Maria B. Grant, Josef M. Penninger, Christoph H. Borchers, David S. Wishart, Vinay Prasad, Gavin Y. Oudit. Sequential multi-omics analysis identifies clinical phenotypes and predictive biomarkers for long COVID. Cell Rep Med. 2023 Oct 18:101254. doi: 10.1016/j.xcrm.2023.101254. Epub ahead of print. PMID: 37890487.

 

2022

*Abdelilah-Seyfried Salim, Iruela-Arispe Maria Luisa, Penninger Josef M., Tournier-Lasserve Elizebeth, Vikkula Miikka, Cleaver Ondine. Recalibrating vascular malformations and mechanotransduction by pharmacological intervention. J Clin Invest. 2022 Apr 15;132(8):e160227. doi: 10.1172/JCI160227. PMID: 35426368; PMCID: PMC9012280.

2023

Nguyen HL, Boon LM, Vikkula Miikka. Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model. Hum Mol Genet. 2023 Jan 6;32(2):276-289. doi: 10.1093/hmg/ddac169. PMID:35972810.

2022

*Ahuja N, Hiltabidle MS, Rajasekhar H, Voss S, Lu SZ, Barlow HR, Cowdin Mitzy A, Daniel E, Vaddaraju V, Anandakumar T, Black E, Cleaver Ondine, Maynard C. Endothelial Cyp26b1 restrains murine heart valve growth during development. Dev Biol. 2022 Jun;486:81-95. doi: 10.1016/j.ydbio.2022.03.003. Epub 2022 Mar 29. PMID: 35364055.

Boon LM, Dekeuleneer V, Coulie J, Marot L, Bataille AC, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula Miikka. Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations. Nat Cardiovasc Res. 2022 Jun 10;1(617):562–567. doi: 10.1038/s44161-022-00080-2.

*Byrne AB, Brouillard Pascal, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers Raphael, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula Miikka, Scott HS, Harvey NL. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. PMID: 35235341.

Calvanese V, Capellera-Garcia S, Ma F, Fares I, Liebscher S, Ng ES, Ekstrand S, Aguadé-Gorgorió J, Vavilina A, Lefaudeux D, Nadel B, Li JY, Wang Y, Lee LK, Ardehali R, Iruela-Arispe Maria Luisa, Pellegrini M, Stanley EG, Elefanty AG, Schenke-Layland K, Mikkola HKA. Mapping human haematopoietic stem cells from haemogenic endothelium to birth. Nature. 2022 Apr;604(7906):534-540. doi: 10.1038/s41586-022-04571-x. Epub 2022 Apr 13. PMID: 35418685; PMCID: PMC9645817.

*Cikes D, Atanes P, Cronin SJF, Hagelkrüys Astrid, Huang GC, Persaud SJ, Penninger Josef M. Neuropeptide Neuromedin B does not alter body weight and glucose homeostasis nor does it act as an insulin-releasing peptide. Sci Rep. 2022 Jun 7;12(1):9383. doi: 10.1038/s41598-022-13060-0. PMID: 35672347; PMCID: PMC9174263.

*Cordisco MR, El-Feghaly J, Prezzano JC, Lanöel A, Torres N, Persico S, Requejo F, Sierre S, Fiandrino MJ, Luna L, Maccario MF, Brouillard Pascal, Vikkula Miikka. Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis. Journal of Vascular Anomalies. 2022 Dec;3(4):p e053. doi: 10.1097/JOVA.0000000000000053.

Coulie J, Boon L, Vikkula Miikka. Molecular pathways and possible therapies for head and neck vascular anomalies. J Oral Pathol Med. 2022 Nov;51(10):878-887. doi: 10.1111/jop.13318. Epub 2022 Jul 4. PMID: 35610188.

Curio S, Edwards SC, Suzuki T, McGovern J, Triulzi C, Yoshida N, Jonsson Gustav, Glauner T, Rami D, Wiesheu R, Kilbey A, Violet Purcell R, Coffelt SB, Guerra N. NKG2D signaling regulates IL-17A-producing γδT cells in mice to promote cancer progression. Discov Immunol. 2022 May 10;1(1):kyac002. doi: 10.1093/discim/kyac002. PMID: 36277678; PMCID: PMC9580227.

Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula Miikka. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. PMID: 35487416.

Dompmartin A, van der Vleuten CJM, Dekeuleneer V, Duprez T, Revencu N, Désir J, Te Loo DMWM, Flucke U, Eijkelenboom A, Schultze Kool L, Vikkula Miikka, Boon L. GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features. Eur J Neurol. 2022 Oct;29(10):3061-3070. doi: 10.1111/ene.15452. Epub 2022 Jul 13. PMID: 35715928.

*Fell CW, Hagelkruys Astrid, Cicvaric A, Horrer M, Liu L, Li JSS, Stadlmann J, Polyansky AA, Mereiter S, Tejada MA, Kokotović T, Achuta VS, Scaramuzza A, Twyman KA, Morrow MM, Juusola J, Yan H, Wang Jun, Burmeister M, Choudhury B, Andersen TL, Wirnsberger G, Holmskov U, Perrimon N, Žagrović B, Monje FJ, Moeller JB, Penninger Josef M, Nagy V. FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder. EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2. PMID: 35916241; PMCID: PMC9449597.

Garelnabi M, Cowdin Mitzy, Fang Y, Shrestha B, Ushio-Fukai M, Aikawa E, Graham G, Molema G, Yanagisawa H, Aikawa M. Embracing Diversity, Equity, and Inclusion in the Scientific Community-Viewpoints of the Diversity, Equity, and Inclusion Committee of the North American Vascular Biology Organization. Front Cardiovasc Med. 2022 Apr 13;9:863256. doi: 10.3389/fcvm.2022.863256. PMID: 35463765; PMCID: PMC9021758.

*Gawish R, Starkl P, Pimenov L, Hladik A, Lakovits K, Oberndorfer F, Cronin SJ, Ohradanova-Repic A, Wirnsberger G, Agerer B, Endler L, Capraz T, Perthold JW, Cikes D, Koglgruber R, Hagelkruys Astrid, Montserrat N, Mirazimi A, Boon L, Stockinger H, Bergthaler A, Oostenbrink C, Penninger Josef M, Knapp S. ACE2 is the critical in vivo receptor for SARS-CoV-2 in a novel COVID-19 mouse model with TNF- and IFNγ-driven immunopathology. Elife. 2022 Jan 13;11:e74623. doi: 10.7554/eLife.74623. PMID: 35023830; PMCID: PMC8776253.

Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S; FEIRI investigators; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; MEGASTROKE; Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula Miikka, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M; ARCADIA Investigators; Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, Bouatia-Naji N. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun. 2021 Oct 15;12(1):6031. doi: 10.1038/s41467-021-26174-2. Erratum in: Nat Commun. 2022 Apr 20;13(1):2251. PMID: 34654805; PMCID: PMC8521585.

*Garreta E, Prado P, Stanifer ML, Monteil V, Marco A, Ullate-Agote A, Moya-Rull D, Vilas-Zornoza A, Tarantino C, Romero JP, Jonsson G, Oria R, Leopoldi Alexandra, Hagelkruys Astrid, Gallo M, González F, Domingo-Pedrol P, Gavaldà A, Del Pozo CH, Hasan Ali O, Ventura-Aguiar P, Campistol JM, Prosper F, Mirazimi A, Boulant S, Penninger Josef M, Montserrat N. A diabetic milieu increases ACE2 expression and cellular susceptibility to SARS-CoV-2 infections in human kidney organoids and patient cells. Cell Metab. 2022 Jun 7;34(6):857-873.e9. doi: 10.1016/j.cmet.2022.04.009. Epub 2022 May 12. PMID: 35561674; PMCID: PMC9097013.

Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula Miikka. The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations. Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9. PMID: 36223836.

*Hagelkruys Astrid, Horrer M, Taubenschmid-Stowers J, Kavirayani A, Novatchkova M, Orthofer M, Pai TP, Cikes D, Zhuk S, Balmaña M, Esk C, Koglgruber R, Moeseneder P, Lazovic J, Zopf LM, Cronin SJF, Elling U, Knoblich JA, Penninger Josef M. The HUSH complex controls brain architecture and protocadherin fidelity. Sci Adv. 2022 Nov 4;8(44):eabo7247. doi: 10.1126/sciadv.abo7247. Epub 2022 Nov 4. PMID: 36332029; PMCID: PMC9635835.

*Hernandez GE, Ma F, Martinez G, Firozabadi NB, Salvador Jocelynda, Juang LJ, Leung J, Zhao P, López DA, Ardehali R, Beaudin AE, Kastrup CJ, Pellegrini M, Flick MJ, Iruela-Arispe Maria Luisa. Aortic intimal resident macrophages are essential for maintenance of the non-thrombogenic intravascular state. Nat Cardiovasc Res. 2022 Jan;1(1):67-84. doi: 10.1038/s44161-021-00006-4. Epub 2022 Jan 12. PMID: 35599984; PMCID: PMC9121812.

*Humbert PO, Pryjda TZ, Pranjic B, Farrell A, Fujikura K, de Matos Simoes R, Karim R, Kozieradzki I, Cronin SJF, Neely GG, Meyer TF, Hagelkruys Astrid, Richardson HE, Penninger Josef M. Correction: TSPAN6 is a suppressor of Ras-driven cancer. Oncogene. 2022 Apr;41(14):2138. doi: 10.1038/s41388-022-02265-2. Erratum for: Oncogene. 2022 Apr;41(14):2095-2105. PMID: 35292775; PMCID: PMC8975738.

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