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1. • Journal article

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   ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

   Peca, Donatella Cutrera, Renato Masotti, Andrea Boldrini, Renata Danhaive, Olivier[UCL] (2015) Biochemical Society transactions — Vol. 43, no.5, p. 913-919 (2015)
2. • Journal article

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   Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.

   Persu, Alexandre[UCL] Dobrowolski, Piotr[UCL] Gornik, Heather L Olin, Jeffrey W Adlam, David Azizi, Michel Boutouyrie, Pierre Bruno, Rosa Maria Boulanger, Marion Demoulin, Jean-Baptiste[UCL] Ganesh, Santhi K J Guzik, Tomasz Januszewicz, Magdalena Kovacic, Jason C Kruk, Mariusz de Leeuw, Peter Loeys, Bart L Pappaccogli, Marco[UCL] Perik, Melanie H A M Touzé, Emmanuel Van der Niepen, Patricia Van Twist, Daan J L Warchoł-Celińska, Ewa Prejbisz, Aleksander[UCL] Januszewicz, Andrzej[UCL] (2022) Cardiovascular research — Vol. 118, no. 1, p. 65-83 (2022)
3. • Journal article

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   Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

   Serra, Eva Gonçalves Schwerd, Tobias Moutsianas, Loukas Cavounidis, Athena Fachal, Laura Pandey, Sumeet Kammermeier, Jochen Croft, Nicholas M Posovszky, Carsten Rodrigues, Astor Russell, Richard K Barakat, Farah Auth, Marcus K H Heuschkel, Robert Zilbauer, Matthias Fyderek, Krzysztof Braegger, Christian Travis, Simon P Satsangi, Jack Parkes, Miles Thapar, Nikhil Ferry, Helen Matte, Julie C Gilmour, Kimberly C Wedrychowicz, Andrzej Sullivan, Peter Moore, Carmel Sambrook, Jennifer Ouwehand, Willem Roberts, David Danesh, John Baeumler, Toni A Fulga, Tudor A Karaminejadranjbar, Mohammad Ahmed, Ahmed Wilson, Rachel Barrett, Jeffrey C Elkadri, Abdul Griffiths, Anne M COLORS in IBD group investigators Oxford IBD cohort study investigators INTERVAL Study Swiss IBD cohort investigators UK IBD Genetics Consortium NIDDK IBD Genetics Consortium Snapper, Scott B Shah, Neil Muise, Aleixo M Wilson, David C Uhlig, Holm H Anderson, Carl A Marot, Astrid[UCL] (2020) Nature communications — Vol. 11, no. 1, p. 995 (2020)
4. • Journal article

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   Functional reduction and associated cellular rearrangement in SHRSP rat basilar arteries are affected by salt load and calcium antagonist treatment.

   Arribas, S M Costa, R Salomone, S. Morel, Nicole[UCL] Godfraind, Theophile[UCL] McGrath, J C (1999) Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism — Vol. 19, no. 5, p. 517-27 (1999)
5. • Journal article

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   Functional classification of ATM variants in ataxia-telangiectasia patients.

   Fiévet, Alice Bellanger, Dorine Rieunier, Guillaume Dubois d'Enghien, Catherine Sophie, Julia Calvas, Patrick Carriere, Jean-Paul Anheim, Mathieu Castrioto, Anna Flabeau, Olivier Degos, Bertrand Ewenczyk, Claire Mahlaoui, Nizar Touzot, Fabien Suarez, Felipe Hully, Marie Roubertie, Agathe Aladjidi, Nathalie Tison, François Poirel, Hélène[UCL] Dahan, Karine[UCL] Doummar, Diane Nougues, Marie-Christine Ioos, Christine Rougeot, Christelle Masurel, Alice Bourjault, Caroline Ginglinger, Emmanuelle Prieur, Fabienne Siri, Aurélie Bordigoni, Pierre Nguyen, Karine Philippe, Noel Bellesme, Céline Demeocq, François Altuzarra, Cecilia Mathieu-Dramard, Michèle Couderc, Fanny Dörk, Thilo Auger, Nathalie Parfait, Béatrice Abidallah, Khadija Moncoutier, Virginie Collet, Agnès Stoppa-Lyonnet, Dominique Stern, Marc-Henri (2019) Human mutation — Vol. 40, no.10, p. 1713-1730 (2019)
6. • Journal article

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   Evaluation of ERAP1 gene single nucleotide polymorphisms in immunomodulation of pro-inflammatory and anti-inflammatory cytokines profile in ankylosing spondylitis.

   Babaie, Farhad Mohammadi, Hamed Hemmatzadeh, Maryam Ebrazeh, Mehrdad Torkamandi, Shahram Yousefi, Mehdi Hajaliloo, Mehrzad Rezaiemanesh, Alireza Salimi, Sorayya Salimi, Reza[UCL] Safarzadeh, Elham Baradaran, Behzad Babaloo, Zohreh (2020) Immunology letters — Vol. 217, p. 31-38 (2020)
7. • Journal article

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   Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

   Weckhuysen, Sarah Holmgren, Philip Hendrickx, Rik Jansen, Anna C Hasaerts, Daniele Dielman, Charlotte de Bellescize, Julitta Boutry-Kryza, Nadia Lesca, Gaetan Von Spiczak, Sarah Helbig, Ingo Gill, Deepak Yendle, Simone Møller, Rikke S Klitten, Laura Korff, Christian Godfraind, Catherine[UCL] Van Rijckevorsel , Kenou[UCL] De Jonghe, Peter Hjalgrim, Helle Scheffer, Ingrid E Suls, Arvid (2013) Epilepsia — Vol. 54, no.5, p. e74-e80 (2013)
8. • Journal article

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   A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.

   De Ridder, Raphaël Vandeweyer, Geert Boudin, Eveline Hendrickx, Gretl Huybrechts, Yentl Cremers, Tycho Canter Devogelaer, Jean-Pierre[UCL] Mortier, Geert Fransen, Erik Van Hul, Wim (2021) Calcified tissue international — Vol. 109, no. 6, p. 656-665 (2021)
9. • Journal article

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   Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations

   Okada, Yukinori Sim, Xueling Go, Min Jin Wu, Jer-Yuarn Gu, Dongfeng Takeuchi, Fumihiko Takahashi, Atsushi Maeda, Shiro Tsunoda, Tatsuhiko Chen, Peng Devuyst, Olivier[UCL] Lim, Su-Chi Wong, Tien-Yin Liu, Jianjun Young, Terri L Aung, Tin Seielstad, Mark Teo, Yik-Ying Kim, Young Jin Lee, Jong-Young Han, Bok-Ghee Kang, Daehee Chen, Chien-Hsiun Tsai, Fuu-Jen Chang, Li-Ching Fann, S-J Cathy Mei, Hao Rao, Dabeeru C Hixson, James E Chen, Shufeng Katsuya, Tomohiro Isono, Masato Ogihara, Toshio Chambers, John C Zhang, Weihua Kooner, Jaspal S Albrecht, Eva Yamamoto, Kazuhiko Kubo, Michiaki Nakamura, Yusuke Kamatani, Naoyuki Kato, Norihiro He, Jiang Chen, Yuan-Tsong Cho, Yoon Shin Tai, E-Shyong Tanaka, Toshihiro (2012) Nature Genetics — Vol. 44, no. 8, p. 904-909 (2012)
10. • Journal article

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    The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.

    Chung, Pui Yan Jenny Beyens, Greet Boonen, Steven Papapoulos, Socrates Geusens, Piet Karperien, Marcel Vanhoenacker, Filip Verbruggen, Leon Fransen, Erik Van Offel, Jan Goemaere, Stefan Zmierczak, Hans-Georg Westhovens, René Devogelaer, Jean-Pierre[UCL] Van Hul, Wim (2010) Human Genetics — Vol. 128, no. 6, p. 615-26 (2010)
11. • Journal article

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    Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

    Strautnieks, Sandra S Byrne, Jane A Pawlikowska, Ludmila Cebecauerová, Dita Rayner, Anne Dutton, Laura Meier, Yvonne Antoniou, Anthony Stieger, Bruno Arnell, Henrik Ozçay, Figen Al-Hussaini, Hussa F Bassas, Atif F Verkade, Henkjan J Fischler, Björn Németh, Antal Kotalová, Radana Shneider, Benjamin L Cielecka-Kuszyk, Joanna McClean, Patricia Whitington, Peter F Sokal, Etienne[UCL] Jirsa, Milan Wali, Sami H Jankowska, Irena Pawłowska, Joanna Mieli-Vergani, Giorgina Knisely, A S Bull, Laura N Thompson, Richard J (2008) Gastroenterology — Vol. 134, no. 4, p. 1203-14 (2008)
12. • Journal article

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    Maternal malnutrition programs the endocrine pancreas in progeny.

    Reusens, Brigitte[UCL] Theys, Nicolas[UCL] Dumortier, Olivier Goosse, Kevin Remacle, Claude[UCL] (2011) American Journal of Clinical Nutrition : a journal reporting the practical application of our world-wide knowledge of nutrition — Vol. 94, no. 6 Suppl, p. 1824S-1829S (2011)
13. • Journal article

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    Gènes de susceptibilité HLA et rétinopathie diabétique chez la population algérienne

    Raache, R Hennachi, R Amroune, H Heniche, A Belanteur, K Benyahia, A Ouandjeli, K S Barar, A Houhou, D Mimouni, S Gervais, Thibaut[UCL] Latinne, Dominique[UCL] Boudiba, A Attal, N Abbadi, M C (2013) Journal français d'ophtalmologie — Vol. 36, no.3, p. 247-254 (2013)
14. • Journal article

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    The c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.

    Moghadasi, Setareh Meeks, Huong D Vreeswijk, Maaike Pg Janssen, Linda Am Borg, Åke Ehrencrona, Hans Paulsson-Karlsson, Ylva Wappenschmidt, Barbara Engel, Christoph Gehrig, Andrea Arnold, Norbert Hansen, Thomas Van Overeem Thomassen, Mads Jensen, Uffe Birk Kruse, Torben A Ejlertsen, Bent Gerdes, Anne-Marie Pedersen, Inge Søkilde Caputo, Sandrine M Couch, Fergus Hallberg, Emily J van den Ouweland, Ans Mw Collée, Margriet J Teugels, Erik Adank, Muriel A van der Luijt, Rob B Mensenkamp, Arjen R Oosterwijk, Jan C Blok, Marinus J Janin, Nicolas[UCL] Claes, Kathleen Bm Tucker, Kathy Viassolo, Valeria Toland, Amanda Ewart Eccles, Diana E Devilee, Peter Van Asperen, Christie J Spurdle, Amanda B Goldgar, David E García, Encarna Gómez (2018) Journal of medical genetics — Vol. 55, no.1, p. 15-20 (2018)
15. • Journal article

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    Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

    Radstake, Timothy R D J Gorlova, Olga Rueda, Blanca Martin, Jose-Ezequiel Alizadeh, Behrooz Z Palomino-Morales, Rogelio Coenen, Marieke J Vonk, Madelon C Houssiau, Frédéric[UCL] (2010) Nature Genetics — Vol. 42, no. 5, p. 426-429 (2010)
16. • Journal article

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    A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection.

    Andreakos, Evangelos Abel, Laurent Vinh, Donald C Kaja, Elżbieta Drolet, Beth A Zhang, Qian O'Farrelly, Cliona Novelli, Giuseppe Rodríguez-Gallego, Carlos Haerynck, Filomeen Prando, Carolina Pujol, Aurora COVID Human Genetic Effort Su, Helen C Casanova, Jean-Laurent Spaan, András N Constantinescu, Stefan N.[UCL] (2022) Nature immunology — Vol. 23, no.2, p. 159-164 (2022)
17. • Journal article

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    Acquired antithrombin type IIb deficiency after liver transplantation: a case report

    Hougardy, Lionel[UCL] Stéphenne, Xavier[UCL] Reding, Raymond[UCL] Sokal, Etienne[UCL] Smets, Françoise[UCL] Lambert, Catherine[UCL] Hermans, Cédric[UCL] (2012) American Journal of Transplantation — Vol. 12, no. 5, p. 1329-1332 (2012)
18. • Journal article

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    Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)

    Solaas, Karianne Legry, Vanessa[UCL] Retterstol, Kjetil Berg, Paul R Holven, Kirsten B Ferrières, Jean Amouyel, Philippe Lien, Sigbjorn Romeo, Javier Valtueña, Jara Widhalm, Kurt Ruiz, Jonatan R Dallongeville, Jean Tonstad, Serena Rootwelt, Helge Halvorsen, Bente Nenseter, Marit S Birkeland, Kare I Thorsby, Per M Meirhaeghe, Aline Nebb, Hilde I (2010) BMC Medical Genetics — Vol. 11, p. 144 (2010)
19. • Journal article

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    Single-nucleotide polymorphism of CD36 locus and obesity in European adolescents

    Bokor, Szilvia Legry, Vanessa[UCL] Meirhaeghe, Aline Ruiz, Jonatan R Mauro, Beatrice Widhalm, Kurt Manios, Yannis Amouyel, Philippe Moreno, Luis A Molnàr, Dènes Dallongeville, Jean the HELENA Study group (2010) Obesity : a research journal — Vol. 18, no.7, p. 1398-1403 (2010)
20. • Journal article

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    Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

    Bollée, Guillaume Dahan, Karin[UCL] Flamant, Martin Morinière, Vincent Pawtowski, Audrey Heidet, Laurence Lacombe, Didier Devuyst, Olivier[UCL] Pirson, Yves[UCL] Antignac, Corinne Knebelmann, Bertrand (2011) Clinical Journal of the American Society of Nephrology — Vol. 6, no. 10, p. 2429-38 (2011)
21. • Journal article

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    70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer.

    Cardoso, Fatima van't Veer, Laura J Bogaerts, Jan Slaets, Leen Viale, Giuseppe Delaloge, Suzette Pierga, Jean-Yves Brain, Etienne Causeret, Sylvain DeLorenzi, Mauro Glas, Annuska M Golfinopoulos, Vassilis Goulioti, Theodora Knox, Susan Matos, Erika Meulemans, Bart Neijenhuis, Peter A Nitz, Ulrike Passalacqua, Rodolfo Ravdin, Peter Rubio, Isabel T Saghatchian, Mahasti Smilde, Tineke J Sotiriou, Christos Stork, Lisette Straehle, Carolyn Thomas, Geraldine Thompson, Alastair M van der Hoeven, Jacobus M Vuylsteke, Peter[UCL] Bernards, René Tryfonidis, Konstantinos Rutgers, Emiel Piccart, Martine MINDACT Investigators (2016) New England Journal of Medicine — Vol. 375, no. 8, p. 717-729 (2016)
22. • Journal article

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    Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

    Delgado-Vega, Angélica M Dozmorov, Mikhail G Quirós, Manuel Bernal Wu, Ying-Yu Martínez-García, Belén Kozyrev, Sergey V Frostegård, Johan Truedsson, Lennart de Ramón, Enrique González-Escribano, María F Ortego-Centeno, Norberto Pons-Estel, Bernardo A D'Alfonso, Sandra Sebastiani, Gian Domenico Witte, Torsten Lauwerys, Bernard[UCL] Endreffy, Emoke Kovács, László Vasconcelos, Carlos da Silva, Berta Martins Wren, Jonathan D Martin, Javier Castillejo-López, Casimiro Alarcón-Riquelme, Marta E (2012) Annals of the Rheumatic Diseases — Vol. 71, no. 7, p. 1219-1226 (2012)
23. • Journal article

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    Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

    Cleynen, Isabelle Boucher, Gabrielle Jostins, Luke Schumm, L Philip Zeissig, Sebastian Ahmad, Tariq Andersen, Vibeke Andrews, Jane M Annese, Vito Brand, Stephan Brant, Steven R Cho, Judy H Daly, Mark J Dubinsky, Marla Duerr, Richard H Ferguson, Lynnette R Franke, Andre Gearry, Richard B Goyette, Philippe Hakonarson, Hakon Halfvarson, Jonas Hov, Johannes R Huang, Hailang Kennedy, Nicholas A Kupcinskas, Limas Lawrance, Ian C Lee, James C Satsangi, Jack Schreiber, Stephan Théâtre, Emilie van der Meulen-de Jong, Andrea E Weersma, Rinse K Wilson, David C International Inflammatory Bowel Disease Genetics Consortium Parkes, Miles Vermeire, Severine Rioux, John D Mansfield, John Silverberg, Mark S Radford-Smith, Graham McGovern, Dermot P B Barrett, Jeffrey C Lees, Charlie W Rahier, Jean-François[UCL] (2016) Lancet (London, England) — Vol. 387, no. 10014, p. 156-67 (2016)
24. • Journal article

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    Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study.

    McNulty, Paul Pilcher, Richard Ramesh, Raviram Necuiniate, Renata Hughes, Alis Farewell, Daniel Holmans, Peter Jones, Lesley REGISTRY Investigators of the European Huntington's Disease Network Constant, Eric[UCL] Gillardin, Anne-Françoise[UCL] Léonard, Marie-Claude[UCL] Dumoulin, Christine[UCL] van de Wyngaerde, Françoise[UCL] (2018) Journal of Huntington's Disease — Vol. 7, no.3, p. 209-222 (2018)
25. • Journal article

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    Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

    Beckers, Dominique Bellanné-Chantelot, Christine Maes, Marc[UCL] (2007) The Journal of pediatrics — Vol. 150, no. 3, p. 313-4 (2007)

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