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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
Theisen, Benjamin E., Rumyantseva, Anastasia, Cohen, Julie S., Alcaraz, Wendy A., Shinde, Deepali N., Tang, Sha, Srivastava, Siddarth, Pevsner, Jonathan, Trifunovic, Aleksandra and Fatemi, Ali (2017). Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Am. J. Med. Genet. A, 173 (9). S. 2505 - 2511. HOBOKEN: WILEY. ISSN 1552-4833