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Journal Article
Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba 
ORCID: 0000-0001-5371-6756, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas ORCID: 0000-0002-0119-5896, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe ORCID: 0000-0001-9713-7107 and Bhoj, Elizabeth
(2020).
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur. J. Hum. Genet., 28 (10).
S. 1422 - 1432.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C.
(2018).
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
J. Med. Genet., 55 (12).
S. 837 - 846.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Tartaglia, Marco, Pessia, Mauro ORCID: 0000-0002-2857-6795, Tucker, Stephen J., D'Adamo, Maria Cristina ORCID: 0000-0002-6758-6064 and Brusco, Alfredo
(2021).
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int. J. Mol. Sci., 22 (11).
BASEL:
MDPI.
ISSN 1422-0067
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Trajkova, Slavica ORCID: 0000-0002-0178-5327, Grosso, Enrico, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Radio, Francesca Clementina ORCID: 0000-0003-1993-8018, Pippucci, Tommaso ORCID: 0000-0001-7737-7963, Dimartino, Paola, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Petlichkovski, Aleksandar ORCID: 0000-0002-1956-4063, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto ORCID: 0000-0002-6873-9827 and Brusco, Alfredo
(2021).
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am. J. Med. Genet. A, 185 (6).
S. 1712 - 1721.
HOBOKEN:
WILEY.
ISSN 1552-4833