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1. • Speech

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   ATP1A3 est responsable de neuropathies auditives isolées et syndromiques (syndrome CAPOS)

   Achard, Sophie Jonard, Laurence Loundon, Nathalie Parodi, Marine Deggouj, Naïma[UCL] Sznajer, Yves[UCL] (2020) 10èmes Assises de Génétique Humaine et Médicale — Palais des Congrès, Tours, France
2. • Journal article

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   Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

   Lovric, Svjetlana Goncalves, Sara Gee, Heon Yung Oskouian, Babak Srinivas, Honnappa Choi, Won-Il Shril, Shirlee Ashraf, Shazia Tan, Weizhen Rao, Jia Airik, Merlin Schapiro, David Braun, Daniela A Sadowski, Carolin E Widmeier, Eugen Jobst-Schwan, Tilman Schmidt, Johanna Magdalena Girik, Vladimir Capitani, Guido Suh, Jung H Lachaussée, Noëlle Arrondel, Christelle Patat, Julie Gribouval, Olivier Furlano, Monica Boyer, Olivia Schmitt, Alain Vuiblet, Vincent Hashmi, Seema Wilcken, Rainer Bernier, Francois P Innes, A Micheil Parboosingh, Jillian S Lamont, Ryan E Midgley, Julian P Wright, Nicola Majewski, Jacek Zenker, Martin Schaefer, Franz Kuss, Navina Greil, Johann Giese, Thomas Schwarz, Klaus Catheline, Vilain Schanze, Denny Franke, Ingolf Sznajer, Yves[UCL] Truant, Anne-Sophie[UCL] Adams, Brigitte Désir, Julie Biemann, Ronald Pei, York Ars, Elisabet Lloberas, Nuria Madrid, Alvaro Dharnidharka, Vikas R Connolly, Anne M Willing, Marcia C Cooper, Megan A Lifton, Richard P Simons, Matias Riezman, Howard Antignac, Corinne Saba, Julie D Hildebrandt, Friedhelm (2017) Journal of Clinical Investigation — Vol. 127, no.3, p. 912-928 (2017)
3. • Journal article

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   Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

   Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak Goyens, Philippe (2012) JIMD reports — Vol. 4, p. 103-108 (2012)
4. • Journal article

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   'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

   Kollmann, Paul Peeters, André[UCL] Vanakker, Olivier Sznajer, Yves[UCL] (2016) Journal of Neurology : official journal of the European Neurological Society — Vol. 263, no.11, p. 2327-2329 (2016)
5. • Journal article

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   Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

   Sen, Partha Yang, Yaping Navarro, Colby Silva, Iris Szafranski, Przemyslaw Kolodziejska, Katarzyna E Dharmadhikari, Avinash V Mostafa, Hasnaa Kozakewich, Harry Kearney, Debra Cahill, John B Whitt, Merrissa Bilic, Masha Margraf, Linda Charles, Adrian Goldblatt, Jack Gibson, Kathleen Lantz, Patrick E Garvin, A Julian Petty, John Kiblawi, Zeina Zuppan, Craig McConkie-Rosell, Allyn McDonald, Marie T Peterson-Carmichael, Stacey L Gaede, Jane T Shivanna, Binoy Schady, Deborah Friedlich, Philippe S Hays, Stephen R Palafoll, Irene Valenzuela Siebers-Renelt, Ulrike Bohring, Axel Finn, Laura S Siebert, Joseph R Galambos, Csaba Nguyen, Lananh Riley, Melissa Chassaing, Nicolas Vigouroux, Adeline Rocha, Gustavo Fernandes, Susana Brumbaugh, Jane Roberts, Kari Ho-Ming, Luk Lo, Ivan F M Lam, Stephen Gerychova, Romana Jezova, Marta Valaskova, Iveta Fellmann, Florence Afshar, Katayoun Giannoni, Eric Muhlethaler, Vincent Liang, Jinlong Beckmann, Jacques S Lioy, Janet Deshmukh, Hitesh Srinivasan, Lakshmi Swarr, Daniel T Sloman, Melissa Shaw-Smith, Charles van Loon, Rosa Laura Hagman, Cecilia Sznajer, Yves[UCL] Barréa, Catherine[UCL] Galant, Christine[UCL] Detaille, Thierry[UCL] Wambach, Jennifer A Cole, F Sessions Hamvas, Aaron Prince, Lawrence S Diderich, Karin E M Brooks, Alice S Verdijk, Robert M Ravindranathan, Hari Sugo, Ella Mowat, David Baker, Michael L Langston, Claire Welty, Stephen Stankiewicz, Pawel (2013) Human Mutation — Vol. 34, no. 6, p. 801-811 (2013)
6. • Journal article

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   Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

   Callier, P Aral, B Hanna, N Lambert, S Dindy, H Ragon, C Payet, M Collod-Beroud, G Carmignac, V Delrue, M A Goizet, C Philip, N Busa, T Dulac, Y Missotte, I Sznajer, Yves[UCL] Toutain, A Francannet, C Megarbane, A Julia, S Edouard, T Sarda, P Amiel, J Lyonnet, S Cormier-Daire, V Gilbert, B Jacquette, A Heron, D Collignon, P Lacombe, D Morice-Picard, F Jouk, P S Cusin, V Willems, M Sarrazin, E Amarof, K Coubes, C Addor, M C Journel, H Colin, E Khau Van Kien, P Baumann, C Leheup, B Martin-Coignard, D Doco-Fenzy, M Goldenberg, A Plessis, G Thevenon, J Pasquier, L Odent, S Vabres, P Huet, F Marle, N Mosca-Boidron, A L Mugneret, F Gauthier, S Binquet, C Thauvin-Robinet, C Jondeau, G Boileau, C Faivre, L (2013) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 84, no.6, p. 507-521 (2013)
7. • Journal article

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   Autosomal insertional translocation mimicking an X-linked mode of inheritance.

   Thierry, Gaelle Pichon, Olivier Briand, Annaig Poulain, Damien Sznajer, Yves[UCL] David, Albert Le Caignec, Cédric (2013) European Journal of Medical Genetics — Vol. 56, no.1, p. 46-49 (2013)
8. • Journal article

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   Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

   Navarro Moreno, Constanza[UCL] Delestienne, Amaury[UCL] Marbaix, Etienne[UCL] Aydin, Selda[UCL] Hörtnagel, Konstanze Lechner, Sarah Sznajer, Yves[UCL] Beauloye, Véronique[UCL] Maiter, Dominique[UCL] Lysy, Philippe[UCL] (2018) Hormone research in paediatrics — Vol. 89, no. 6, p. 423-433 (2018)
9. • Journal article

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   Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

   De Greef, Jessica C. Wang, Jun Balog, Judit Den Dunnen, Johan T. Frants, Rune R. Straasheijm, Kirsten R. Aytekin, Caner Van Der Burg, Mirjam Duprez, Laurence Ferster, Alina Gennery, Andrew R. Gimelli, Giorgio Reisli, Ismail Schuetz, Catharina Schulz, Ansgar Smeets, Dominique F.C.M. Sznajer, Yves[UCL] Wijmenga, Cisca Van Eggermond, Marja C. Van Ostaijen-Ten Dam, Monique M. Lankester, Arjan C. Van Tol, Maarten J.D. Van Den Elsen, Peter J. Weemaes, Corry M. Van Der Maarel, Silvre M. (2011) American Journal of Human Genetics — Vol. 88, no. 6, p. 796-804 (2011)
10. • Journal article

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    Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    Verloes, Alain Di Donato, Nataliya Masliah-Planchon, Julien Jongmans, Marjolijn Abdul-Raman, Omar A Albrecht, Beate Allanson, Judith Brunner, Han Bertola, Debora Chassaing, Nicolas David, Albert Devriendt, Koen Eftekhari, Pirayeh Drouin-Garraud, Valérie Faravelli, Francesca Faivre, Laurence Giuliano, Fabienne Guion Almeida, Leina Juncos, Jorge Kempers, Marlies Eker, Hatice Koçak Lacombe, Didier Lin, Angela Mancini, Grazia Melis, Daniela Lourenço, Charles Marques Siu, Victoria Mok Morin, Gilles Nezarati, Marjan Nowaczyk, Malgorzata J M Ramer, Jeanette C Osimani, Sara Philip, Nicole Pierpont, Mary Ella Procaccio, Vincent Roseli, Zeichi-Seide Rossi, Massimiliano Rusu, Cristina Sznajer, Yves[UCL] Templin, Ludivine Uliana, Vera Klaus, Mirjam Van Bon, Bregje Van Ravenswaaij, Conny Wainer, Bruce Fry, Andrew E Rump, Andreas Hoischen, Alexander Drunat, Séverine Rivière, Jean-Baptiste Dobyns, William B Pilz, Daniela T (2015) European Journal of Human Genetics — Vol. 23, no.3, p. 292-301 (2014)
11. • Journal article

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    The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

    Jia, Yaojuan Louw, Jacoba J Breckpot, Jeroen Callewaert, Bert Barréa, Catherine[UCL] Sznajer, Yves[UCL] Gewillig, Marc Souche, Erika Dehaspe, Luc Vermeesch, Joris Robert Lambrechts, Diether Devriendt, Koenraad Corveleyn, Anniek (2015) American Journal of Medical Genetics. Part A — Vol. 167, no. 8, p. 1822-1829 (2015)
12. • Journal article

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    Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" gene partial deletion.

    Deneufbourg, Charlotte[UCL] Duquenne, Armelle[UCL] Biard, Jean-Marc[UCL] Sznajer, Yves[UCL] (2021) Clinical case reports — Vol. 9, no.9, p. e04718 (2021)
13. • Speech

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    Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency

    Paquay, Stéphanie[UCL] Sluysmans, Thierry[UCL] Loeckx, Isabelle Sznajer, Yves[UCL] Vachiery, Jean-Luc Seneca, Sara Nassogne, Marie-Cécile[UCL] (2017) Belgian Society of Pediatric Neurology — Bruges
14. • Journal article

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    Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

    Costantini, Alice Alm, Jessica J Tonelli, Francesca Valta, Helena Huber, Céline Tran, Anh N Daponte, Valentina Kirova, Nadi Kwon, Yong-Uk Bae, Jung Yun Chung, Woo Yeong Tan, Shengjiang Sznajer, Yves[UCL] Nishimura, Gen Näreoja, Tuomas Warren, Alan J Cormier-Daire, Valérie Kim, Ok-Hwa Forlino, Antonella Cho, Tae-Joon Mäkitie, Outi (2021) Journal of bone and mineral research — Vol. 36, no. 2, p. 283-297 (2021)
15. • Journal article

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    Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

    Abdelfattah, Fatima Kariminejad, Ariana Kahlert, Anne-Karin Morrison, Patrick J Gumus, Evren Mathews, Katherine D Darbro, Benjamin W Amor, David J Walsh, Maie Sznajer, Yves[UCL] Weiß, Luisa Weidensee, Sabine Chitayat, David Shannon, Patrick Bermejo-Sánchez, Eva Riaño-Galán, Isolina Hayes, Ian Poke, Gemma Rooryck, Caroline Pennamen, Perrine Khung-Savatovsky, Suonavy Toutain, Annick Vuillaume, Marie-Laure Ghaderi-Sohi, Siavash Kariminejad, Mohamad H Weinert, Sönke Sticht, Heinrich Zenker, Martin Schanze, Denny (2020) Human mutation — Vol. 41, no.9, p. 1615-1628 (2020)
16. • Speech

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    PP03.10 – 2967: Niemann-Pick C disease: Diagnostic challenge

    Gobert, Cyrielle[UCL] Sznajer, Yves[UCL] Clapuyt, Philippe[UCL] Latour , P.[UCL] Nassogne, Marie-Cécile[UCL] (2015) 11th European Paediatric Neurology Society Congress 2015 — (Austria) Vienna
17. • Journal article

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    Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

    Paquay, Stéphanie[UCL] Wiame, Elsa[UCL] Deggouj, Naima[UCL] Boschi, Antonella[UCL] De Siati, Romolo Daniele[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] (2018) International Journal of Pediatric Otorhinolaryngology — Vol. 104, p. 191-194 (2018)
18. • Journal article

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    Neurobehavioural vulnerability and autistic traits in RASopathies.

    Sznajer, Yves[UCL] (2017) Developmental Medicine and Child Neurology — Vol. 59, no.5, p. 461 (2017)
19. • Speech

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    Compound heterozygous mutations in col7A1 gene in a girl with unusual phenotype of dystrophic epidermolysis bullosa

    Colmant, Caroline[UCL] Sznajer, Yves[UCL] Baeck, Marie[UCL] Kamsteeg, Paul A Spanoudi-Kitrimi, Ifigenia[UCL] Tennstedt, Dominique[UCL] Dekeuleneer, Valérie[UCL] (2016) —
20. • Journal article

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    Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

    Duquesne, Sophie[UCL] Nassogne, Marie-Cécile[UCL] Clapuyt, Philippe[UCL] Stouffs, Katrien Sznajer, Yves[UCL] (2020) European journal of medical genetics — Vol. 63, no.9, p. 103991 [1-4] (2020)
21. • Journal article

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    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

    Piard, J. Aral, B. Vabres, P. Holder-Espinasse, M. Mégarbané, A. Gauthier, S. Capra, V. Pierquin, G. Callier, P. Baumann, C. Pasquier, L. Baujat, G. Martorell, L. Rodriguez, A. Brady, A.F. Boralevi, F. González-Enseñat, M.A. Rio, M. Bodemer, C. Philip, N. Cordier, M.-P. Goldenberg, A. Demeer, B. Wright, M. Blair, E. Puzenat, E. Parent, P. Sznajer, Yves[UCL] Francannet, C. Didonato, N. Boute, O. Barlogis, V. Moldovan, O. Bessis, D. Coubes, C. Tardieu, M. Cormier-Daire, V. Sousa, A.B. Franques, J. Toutain, A. Tajir, M. Elalaoui, S.C. Geneviève, D. Thevenon, J. Courcet, J.-B. Rivière, J.-B. Collet, C. Gigot, N. Faivre, L. Thauvin-Robinet, C. (2015) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 87, no. 3, p. 244-251 (2015)
22. • Journal article

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    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

    Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves[UCL] Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride (2019) Genetics in medicine — Vol. 21, no.8, p. 1761-1771 (2019)
23. • Journal article

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    An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease

    de Montpellier d'Annevoie, Sybille[UCL] Sznajer, Yves[UCL] Amiel, Jeanne François, Geneviève[UCL] Nassogne, Marie-Cécile[UCL] Debauche, Christian[UCL] scheers, Isabelle[UCL] (2014) European journal of pediatrics — Vol. 173, no. 12, p. 1607-1609 (2014)
24. • Journal article

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    “Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies

    Beleza-Meireles, Ana[UCL] Steenhaut, Patricia[UCL] Hocq, Catheline[UCL] Clapuyt, Philippe[UCL] Bernard, Pierre[UCL] Debauche, Christian[UCL] Sznajer, Yves[UCL] (2017) European Journal of Medical Genetics — Vol. 60, no.2, p. 100-104 (2017)
25. • Journal article

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    Les inhibiteurs mTOR : nouvel outil thérapeutique dans la prise en charge de la Sclérose Tubéreuse de Bourneville. Expérience de l’équipe multidisciplinaire des Cliniques universitaires Saint-Luc

    Dekeuleneer, Valérie[UCL] Ho, Thien Anh[UCL] Van Rijckevorsel, Germaine[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] Godefroid, Nathalie[UCL] Derouaux, Anne-Sophie[UCL] Pirson, Yves[UCL] (2015) Louvain médical — Vol. 134, no.10, p. 537-546 (2015)

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