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1. • Journal article

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   Recalibrating vascular malformations and mechanotransduction by pharmacological intervention.

   Abdelilah-Seyfried, Salim Iruela-Arispe, M Luisa Penninger, Josef M Tournier-Lasserve, Elisabeth Vikkula, Miikka[UCL] Cleaver, Ondine (2022) The Journal of clinical investigation — Vol. 132, no.8 (2022)
2. • Journal article

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   Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.

   Toll, Agustí Parera, Elisabet Giménez-Arnau, Ana M Pou, Alejandro Lloreta, Josep Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Pujol, Ramon M (2009) Dermatology (Basel, Switzerland) — Vol. 218, no. 4, p. 307-13 (2009)
3. • Journal article

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   Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies.

   Göhring, Ina Tagariello, Andreas Endele, Sabine Stolt, Claus C Ghassibé, Michella[UCL] Fisher, Malcolm Thiel, Christian T. Trautmann, Udo Vikkula, Miikka[UCL] Winterpacht, Andreas FitzPatrick, David R. Rauch, Anita (2009) Journal of medical genetics — Vol. 47, no. 2, p. 91-8 (2010)
4. • Journal article

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   DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

   Lorenz-Depiereux, Bettina Bastepe, Murat Benet-Pagès, Anna Amyere, Mustapha[UCL] Wagenstaller, Janine Müller-Barth, Ursula Badenhoop, Klaus Kaiser, Stephanie M. Rittmaster, Roger S. Shlossberg, Alan H. Olivares, José L. Loris, César Ramos, Feliciano J. Glorieux, Francis Vikkula, Miikka[UCL] Jüppner, Harald Strom, Tim M. (2006) Nature Genetics — Vol. 38, no. 11, p. 1248-1250 (2006)
5. • Journal article

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   Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.

   Jinnin, Masatoshi Medici, Damian Park, Lucy Limaye, Nisha[UCL] Liu, Yanqiu Boscolo, Elisa Bischoff, Joyce Vikkula, Miikka[UCL] Boye, Eileen Olsen, Bjorn R (2008) Nature medicine — Vol. 14, no. 11, p. 1236-46 (2008)
6. • Journal article

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   Les malformations veineuses: aspects cliniques et diagnostic différentiel.

   Casanova, D Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2006) Annales de Chirurgie Plastique Esthetique — Vol. 51, no. 4-5, p. 373-387 (2006)
7. • Journal article

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   Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.

   Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Vikkula, Miikka[UCL] (2004) Archives of dermatology — Vol. 140, no. 8, p. 971-6 (2004)
8. • Journal article

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   Vascular pathologies. Angiogenomics: towards a genetic nosology and understanding of vascular anomalies

   Vikkula, Miikka[UCL] (2007) European Journal of Human Genetics — Vol. 15, no. 8, p. 821-822 (2007)
9. • Journal article

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   PTHR1 mutations associated with Ollier disease result in receptor loss of function

   Couvineau, Alain Wouters, Vinciane[UCL] Bertrand, Guylène Rouyer, Christiane Gérard, Bénédicte Boon, Laurence M.[UCL] Grandchamp, Bernard Vikkula, Miikka[UCL] Silve, Caroline (2008) Human Molecular Genetics — Vol. 17, no. 18, p. 2766-75 (2008)
10. • Journal article

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    Association of localized intravascular coagulopathy with venous malformations

    Dompmartin, Anne[UCL] Acher, Aurélie Thibon, Pascal Tourbach, Sébastien[UCL] Hermans, Cédric[UCL] Deneys, Véronique[UCL] Pocock, Ben[UCL] Lequerrec, Agnès Labbé, Daniel Barrellier, Marie-Thérèse Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] (2008) Archives of Dermatology — Vol. 144, no. 7, p. 873-877 (2008)
11. • Journal article

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    Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

    Rousseau, Emmanuel[UCL] Palm, Thomas[UCL] Scaravilli, Francesco Ruchoux, Marie-Magdeleine Figarella-Branger, Dominique Salmon, Isabelle Ellison, David Lacroix, Catherine Chapon, Françoise Mikol, Jacqueline Vikkula, Miikka[UCL] Godfraind, Catherine[UCL] (2007) Molecular Cancer — Vol. 6, p. 47 [1-10] (2007)
12. • Journal article

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    Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

    Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Pierrot, Nathalie[UCL] Collard, François[UCL] Amyere, Mustapha[UCL] Noël, Gaëtane[UCL] Desmedt, Jonathan[UCL] Nassogne, Marie-Cécile[UCL] Vikkula, Miikka[UCL] Octave, Jean-Noël[UCL] Vincent, Marie-Françoise[UCL] Courtoy, Pierre J.[UCL] Boltshauser, Eugen Van Schaftingen, Emile[UCL] (2010) Biochemical Journal — Vol. 425, no. 1, p. 127-136 (2010)
13. • Journal article

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    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Cordisco, Maria Rosa Burrows, Patricia E Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dubois, Josée Baselga, Eulalia Brancati, Francesco Carder, Robin Quintal, José Miguel Ceballos Dallapiccola, Bruno Fischer, Gayle Frieden, Ilona J Garzon, Maria Harper, John Johnson-Patel, Jennifer Labrèze, Christine Martorell, Loreto Paltiel, Harriet J Pohl, Annette Prendiville, Julie Quere, Isabelle Siegel, Dawn H Valente, Enza Maria Van Hagen, Annet Van Hest, Liselot Vaux, Keith K Vicente, Asuncion Weibel, Lisa Chitayat, David Vikkula, Miikka[UCL] (2008) Human Mutation — Vol. 29, no. 7, p. 959-965 (2008)
14. • Journal article

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    Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

    Gutierrez-Roelens, Ilse[UCL] Sluysmans, Thierry[UCL] Gewillig, Marc Devriendt, Koen Vikkula, Miikka[UCL] (2002) Human Mutation — Vol. 20, no. 1, p. 75-81 (2002)
15. • Journal article

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    Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2.

    Ghalamkarpour, Arash Debauche, Christian[UCL] Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) The Journal of pediatrics — Vol. 155, no. 1, p. 90-3 (2009)
16. • Journal article

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    Expression profiling of ependymomas unravels localization and tumor grade-specific tumorigenesis.

    Palm, Thomas Figarella-Branger, Dominique Chapon, Françoise Lacroix, Catherine Gray, Françoise Scaravilli, Francesco Ellison, David W Salmon, Isabelle Vikkula, Miikka[UCL] Godfraind, Catherine[UCL] (2009) Cancer — Vol. 115, no. 17, p. 3955-68 (2009)
17. • Journal article

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    Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.

    Brouillard, Pascal[UCL] Ghassibé, Michella[UCL] Penington, A Boon, Laurence M.[UCL] Dompmartin, Anne[UCL] Temple, I K Cordisco, M Adams, D. Piette, F Harper, J I Syed, S Boralevi, F Taïeb, A Danda, S Baselga, E Enjolras, O Mulliken, J B Vikkula, Miikka[UCL] (2005) Journal of medical genetics — Vol. 42, no. 2, p. e13 (2005)
18. • Journal article

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    Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.

    Persu, Alexandre[UCL] Amyere, Mustapha[UCL] Gutierrez-Roelens, Ilse[UCL] Rustin, Pierre Sempoux, Christine[UCL] Lecouvet, Frédéric[UCL] Van Beers, Bernard[UCL] Horsmans, Yves[UCL] De Plaen, Jean-François[UCL] Hamoir, Marc[UCL] Vikkula, Miikka[UCL] (2009) Journal of Hypertension — Vol. 27, no. 1, p. 76-82 (2009)
19. • Journal article

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    Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

    Brouillard, Pascal[UCL] Boon, Laurence M.[UCL] Mulliken, John B. Enjolras, Odile Ghassibé, Michella[UCL] Warman, Matthew L. Tan, O. T. Olsen, Bjorn R. Vikkula, Miikka[UCL] (2002) American Journal of Human Genetics — Vol. 70, no. 4, p. 866-874 (2002)
20. • Journal article

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    Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.

    Eerola, Iiro[UCL] Boon, Laurence M.[UCL] Watanabe, Shoji Grynberg, Henri Mulliken, John B Vikkula, Miikka[UCL] (2002) European Journal of Human Genetics — Vol. 10, no. 6, p. 375-380 (2002)
21. • Journal article

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    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

    Ferreira de Lima, Renata Hoper, Sarah Ghassibé, Michella[UCL] Cooper, Margaret Rorick, Nicholas Kondo, Shinji Katz, Lori Marazita, Mary Compton, John Bale, Sherri Hehr, Ute Dixon, Michael Daack-Hirsch, Sandra Boute, Odile Bayet, Bénédicte[UCL] Revencu, Nicole[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] Richieri-Costa, Antônio Moretti-Ferreira, Danilo Murray, Jeffrey Schutte, Brian (2009) Genetics in Medicine — Vol. 11, no. 4, p. 241-247 (2009)
22. • Journal article

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    From germline towards somatic mutations in the pathophysiology of vascular anomalies.

    Limaye, Nisha[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) Human molecular genetics — Vol. 18, no. R1, p. R65-74 (2009)
23. • Journal article

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    Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

    Ghalamkarpour, Arrask[UCL] Holnthoner, Wolfgang Saharinen, Pipsa Boon, Laurence M.[UCL] Mulliken, John B. Alitalo, Kari Vikkula, Miikka[UCL] (2009) Journal of Medical Genetics — Vol. 46, no. 6, p. 399-404 (2009)
24. • Journal article

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    From Blue Jeans to Blue Genes.

    Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) Journal of Craniofacial Surgery — Vol. 20 Suppl 1, p. 703-7066 (2009)
25. • Journal article

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    KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

    Eerola, I Plate, K H Spiegel, R Boon, Laurence M.[UCL] Mulliken, J B Vikkula, Miikka[UCL] (2000) Human molecular genetics — Vol. 9, no. 9, p. 1351-5 (2000)

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