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1. • Journal article

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   Unexplained neonatal respiratory distress due to congenital surfactant deficiency.

   Somaschini, Marco Nogee, Lawrence M Sassi, Isabella Danhaive, Olivier[UCL] Presi, Silvia Boldrini, Renata Montrasio, Cristina Ferrari, Maurizio Wert, Susan E Carrera, Paola (2007) The Journal of pediatrics — Vol. 150, no.6, p. 649-653, 653.e1 (2007)
2. • Journal article

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   A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

   Hildebrand, Joanne M Kauppi, Maria Majewski, Ian J Liu, Zikou Cox, Allison J Miyake, Sanae Petrie, Emma J Silk, Michael A Li, Zhixiu Tanzer, Maria C Brumatti, Gabriela Young, Samuel N Hall, Cathrine Garnish, Sarah E Corbin, Jason Stutz, Michael D Di Rago, Ladina Gangatirkar, Pradnya Josefsson, Emma C Rigbye, Kristin Anderton, Holly Rickard, James A Tripaydonis, Anne Sheridan, Julie Scerri, Thomas S Jackson, Victoria E Czabotar, Peter E Zhang, Jian-Guo Varghese, Leila[UCL] Allison, Cody C Pellegrini, Marc Tannahill, Gillian M Hatchell, Esme C Willson, Tracy A Stockwell, Dina de Graaf, Carolyn A Collinge, Janelle Hilton, Adrienne Silke, Natasha Spall, Sukhdeep K Chau, Diep Athanasopoulos, Vicki Metcalf, Donald Laxer, Ronald M Bassuk, Alexander G Darbro, Benjamin W Fiatarone Singh, Maria A Vlahovich, Nicole Hughes, David Kozlovskaia, Maria Ascher, David B Warnatz, Klaus Venhoff, Nils Thiel, Jens Biben, Christine Blum, Stefan Reveille, John Hildebrand, Michael S Vinuesa, Carola G McCombe, Pamela Brown, Matthew A Kile, Benjamin T McLean, Catriona Bahlo, Melanie Masters, Seth L Nakano, Hiroyasu Ferguson, Polly J Murphy, James M Alexander, Warren S Silke, John (2020) Nature communications — Vol. 11, no.1, p. 3150 [1-16] (2020)
3. • Journal article

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   The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

   Maystadt, Isabelle[UCL] Rezsohazy, René[UCL] Barkats, Martine Duque, Sandra Vannuffel, Pascal Remacle, Sophie[UCL] Lambert, Barbara[UCL] Najimi, Mustapha[UCL] Sokal, Etienne[UCL] Munnich, Arnold Viollet, Louis Dumoulin, Christine[UCL] (2007) American Journal of Human Genetics — Vol. 81, no. 1, p. 67-76 (2007)
4. • Journal article

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   Thrombopoietin receptor down-modulation by JAK2 V617F: restoration of receptor levels by inhibitors of pathologic JAK2 signaling and of proteasomes.

   Pecquet, Christian[UCL] Diaconu, Carmen C Staerk, Judith Girardot, Michael Marty, Caroline Royer, Yohan Defour, Jean-Philippe[UCL] Dusa, Alexandra Besancenot, Rodolphe Giraudier, Stephane Villeval, Jean-Luc Knoops, Laurent Courtoy, Pierre J.[UCL] Vainchenker, William Constantinescu, Stefan N.[UCL] (2012) Blood — Vol. 119, no. 20, p. 4625-4635 (2012)
5. • Journal article

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   Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

   Klopocki, Eva Hennig, Bianca P. Dathe, Katarina Koll, Randi de Ravel, Thomy Baten, Emiel Blom, Eveline Gillerot, Yves[UCL] Weigel, Johannes F. W. Krueger, Gabriele Hiort, Olaf Seemann, Petra Mundlos, Stefan (2010) American Journal of Human Genetics — Vol. 86, no. 3, p. 434-9 (2010)
6. • Journal article

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   Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

   Dierick, Ines Baets, Jonathan Irobi, Joy Jacobs, An De Vriendt, Els Deconinck, Tine Merlini, Luciano Van den Bergh, Peter[UCL] Rasic, Vedrana Milic Robberecht, Wim Fischer, Dirk Morales, Raul Juntas Mitrovic, Zoran Seeman, Pavel Mazanec, Radim Kochanski, Andrzej Jordanova, Albena Auer-Grumbach, Michaela Helderman-van den Enden, A. T. J. M. Wokke, John H. J. Nelis, Eva De Jonghe, Peter Timmerman, Vincent (2008) Brain : a journal of neurology — Vol. 131, no. Pt 5, p. 1217-1227 (2008)
7. • Journal article

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   Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

   Windpassinger, C Van den Bergh, Peter[UCL] Auer-Grumbach, M Irobi, J Patel, H Petek, E Horl, G Malli, R Reed, JA Dierick, I Verpoorten, N Warner, TT Proukakis, C Dumoulin, Christine[UCL] Van Maldergem, L. Merlini, L De Jonghe, P. Timmerman, V Crosby, AH Wagner, K. (2004) Nature Genetics — Vol. 36, no. 3, p. 271-6 (2004)
8. • Journal article

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   Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion

   Møller, A M Ek, J Durviaux, S M[UCL] Urhammer, SA Clausen, J O Eiberg, H Hansen, T Rousseau, Guy[UCL] Lemaigre, Frédéric[UCL] Pedersen, O (1999) Diabetologia : clinical and experimental diabetes and metabolism — Vol. 42, no. 8, p. 1011-1016 (1999)
9. • Journal article

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   Characterisation of novel defective thiopurine S-methyltransferase allelic variants.

   Garat, A Allorge, Delphine Cauffiez, C Renault, N Lo-Guidice, J M Chevalier, D. Houdret, N Chavatte, P Loriot, M A Gala, Jean-Luc[UCL] Broly, F (2008) Biochemical pharmacology — Vol. 76, no. 3, p. 404-15 (2008)
10. • Journal article

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    Endoplasmic reticulum export, subcellular distribution, and fibril formation by Pmel17 require an intact N-terminal domain junction

    Leonhardt, Ralf M. Vigneron, Nathalie[UCL] Rahner, Christoph Van den Eynde, Benoît[UCL] Cresswell, Peter (2010) Journal of Biological Chemistry — Vol. 285, no. 21, p. 16166-16183 (2010)
11. • Journal article

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    Ligand-independent Homomeric and Heteromeric Complexes between Interleukin-2 or-9 Receptor Subunits and the gamma Chain

    Malka, Yaniv Knoops, Laurent[UCL] Hornakova, Tekla[UCL] Royer, Yohan[UCL] Renauld, Jean-Christophe[UCL] Constantinescu, Stefan N.[UCL] Henis, Yoav I. (2008) Journal of Biological Chemistry — Vol. 283, no. 48, p. 33569-77 (2008)
12. • Journal article

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    Blau syndrome associated with a CARD15/NOD2 mutation.

    Snyers, Bernadette[UCL] Dahan, Karin[UCL] (2006) American journal of ophthalmology — Vol. 142, no. 6, p. 1089-92 (2006)
13. • Journal article

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    Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

    Baguette, Christel Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] Louis, Jacques Dahan, Karin[UCL] Vincent, Marie-Françoise[UCL] Cornu, Guy[UCL] (2002) Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology — Vol. 24, no. 1, p. 69-71 (2002)
14. • Journal article

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    Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Bosmans, Arnaud[UCL] Lambert, Catherine[UCL] Vermylen, Christiane[UCL] Hermans, Cédric[UCL] (2012) Haemophilia : the official journal of the World Federation of Hemophilia — Vol. 18, no. 3, p. e331-e339 (2012)
15. • Journal article

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    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
16. • Journal article

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    Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

    Irrthum, Alexandre[UCL] Devriendt, Koenraad Chitayat, David Matthijs, Gert Glade, Conrad Steijlen, Peter M Fryns, Jean-Pierre Van Steensel, Maurice A M Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 72, no. 6, p. 1470-1478 (2003)
17. • Journal article

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    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

    Betsalel, Ofir T Pop, Ana Rosenberg, Efraim H Fernandez-Ojeda, Matilde Jakobs, Cornelis Salomons, Gajja S (2012) Molecular genetics and metabolism — Vol. 105, no.4, p. 596-601 (2012)
18. • Journal article

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    Mass spectrometry studies of demetallation of haemin by recombinant horse L chain apoferritin and its mutant (E 53,56,57,60 Q).

    de Val, Natalia Herschbach, Haiko Potier, Noëlle Dorsselaer, Alain Van Crichton, Robert[UCL] (2006) FEBS letters — Vol. 580, no. 26, p. 6275-80 (2006)
19. • Journal article

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    Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

    Pansuriya, Twinkal C van Eijk, Ronald d'Adamo, Pio van Ruler, Maayke A J H Kuijjer, Marieke L Oosting, Jan Cleton-Jansen, Anne-Marie van Oosterwijk, Jolieke G Verbeke, Sofie L J Meijer, Daniëlle van Wezel, Tom Nord, Karolin H Sangiorgi, Luca Toker, Berkin Liegl-Atzwanger, Bernadette San-Julian, Mikel Sciot, Raf Limaye, Nisha[UCL] Kindblom, Lars-Gunnar Daugaard, Soeren Godfraind, Catherine[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] Kurek, Kyle C Szuhai, Karoly French, Pim J Bovée, Judith V M G (2011) Nature Genetics — Vol. 43, no. 12, p. 1256-61 (2011)
20. • Journal article

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    Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.

    Tang, Tzu-Chun Kienlen-Campard, Pascal[UCL] Hu, Yi Perrin, Florian Opsomer, Rémi[UCL] Octave, Jean-Noël[UCL] Constantinescu, Stefan N.[UCL] Smith, Steven O (2019) The Journal of biological chemistry — Vol. 294, no. 15, p. 5854-5866 (2019)
21. • Journal article

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    miR-28 is a thrombopoietin receptor targeting microRNA detected in a fraction of myeloproliferative neoplasm patient platelets

    Girardot, Michaël[UCL] Pecquet, Christian[UCL] Boukour, Siham Knoops, Laurent[UCL] Ferrant, Augustin[UCL] Vainchenker, William Giraudier, Stephane Constantinescu, Stefan N.[UCL] (2010) Blood — Vol. 116, no. 3, p. 437-45 (2010)
22. • Journal article

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    Autosomal dominant von Willebrand disease type 2M.

    Hermans, Cédric[UCL] Batlle, Javier (2009) Acta haematologica — Vol. 121, no. 2-3, p. 139-44 (2009)
23. • Journal article

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    Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

    Cuesta-Muñoz, Antonio L Huopio, Hanna Otonkoski, Timo Gomez-Zumaquero, Juan M Näntö-Salonen, Kirsti Rahier, Jacques[UCL] López-Enriquez, Soledad García-Gimeno, Maria A Sanz, Pascual Soriguer, Federico C Laakso, Markku (2004) Diabetes — Vol. 53, no. 8, p. 2164-8 (2004)
24. • Journal article

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    Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

    De Leeneer, Kim Van Bockstal, Mieke[UCL] De Brouwer, Sara Swietek, Natalia Schietecatte, Peter Sabbaghian, Nelly Van den Ende, Jenneke Willocx, Sandra Storm, Katrien Blaumeiser, Bettina Van Asperen, Christi J Wijnen, Juul T Leunen, Karin Legius, Eric Michils, Geneviève Matthijs, Geert Blok, Marinus J Gómez-García, Encarna De Paepe, An Tischkowitz, Marc Poppe, Bruce Claes, Kathleen (2012) Breast cancer research and treatment — Vol. 133, no. 1, p. 393-398 (2012)
25. • Journal article

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    Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms.

    Mambet, Cristina[UCL] Babosova, Olga Defour, Jean-Philippe[UCL] Leroy, Emilie[UCL] Necula, Laura Stanca, Oana Tatic, Aurelia Berbec, Nicoleta Coriu, Daniel Belickova, Monika Kralova, Barbora Lanikova, Lucie Vesela, Jitka Pecquet, Christian[UCL] Saussoy, Pascale[UCL] Havelange, Violaine[UCL] Diaconu, Carmen C Divoky, Vladimir Constantinescu, Stefan N.[UCL] (2018) Blood — Vol. 132, no. 25, p. 2695-2699 (2018)

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