Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

- Lim, Belle W. X., Li, Na, Devereux, Lisa, Scott, Rodney J., Sloan, Erica K., James, Paul A., Campbell, Ian G., Mahale, Sakshi, McInerny, Simone, Zethoven, Magnus, Rowley, Simone M., Huynh, Joanne, Wang, Theresa, Lee, Jue Er Amanda, Friedman, Mia

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

- Sy, Mary R., Chauhan, Jaynee, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Veronique, Vieville, Gaelle, Donaldson, Alan, Prescott, Katrina, Beneteau, C, Ghoumid, J, Van den Bogaert, K, Boogaerts, A, Boudry, E, Vanlerberghe, C, Petit, F, Bernardini, L, Torres, B, Mattina, T, Imam, Aliza, Carli, D, Mandrile, G, Pinelli, M, Brunetti-Pierri, N, Neas, K, Beddow, R, Torring, PM, Faletra, F, Spedicati, B, Gasparini, P, Kraus, Alison, Mussa, A, Ferrero, GB, Lampe, A, Lam, W, Bi, W, Bacino, CA, Kuwahara, A, Bush, JO, Zhao, X, Luna, PN, Beleza, Ana, Shaw, CA, Rosenfeld, JA, Scott, DA, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu