Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants
- Creator: 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
- Resource Type: journal article
- Date: 2023
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
- Creator: 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
- Resource Type: journal article
- Date: 2022
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
- Creator: 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
- Resource Type: journal article
- Date: 2020
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
- Creator: Goldsmith, Heidi , Wells, Anna , Sá, Maria J. N. , Williams, Mark , Heussler, Helen , Buckman, Melissa , Pfundt, Rolph , de Vries, Bert B. A. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019