Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

ανά Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Τόπος έκδοσης Mol Genet Genomic Med (2019)

Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Resul...

ανά Berrios, Courtney, James, Cynthia A., Raraigh, Karen, Bollinger, Juli, Murray, Brittney, Tichnell, Crystal, Applegate, Carolyn D., Bergner, Amanda L.
Τόπος έκδοσης J Genet Couns (2017)

A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1

ανά Fahrner, Jill A., Frazier, Aisha, Bachir, Suha, Walsh, Michael F., Applegate, Carolyn D., Thompson, Reid, Halushka, Marc K., Murphy, Anne M., Gunay-Aygun, Meral
Τόπος έκδοσης Am J Med Genet A (2012)

Short telomere syndromes cause a primary T cell immunodeficiency

ανά Wagner, Christa L., Hanumanthu, Vidya Sagar, Talbot, C. Conover, Abraham, Roshini S., Hamm, David, Gable, Dustin L., Kanakry, Christopher G., Applegate, Carolyn D., Siliciano, Janet, Jackson, J. Brooks, Desiderio, Stephen, Alder, Jonathan K., Luznik, Leo, Armanios, Mary
Τόπος έκδοσης J Clin Invest (2018)

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

ανά Fichtman, Boris, Harel, Tamar, Biran, Nitzan, Zagairy, Fadia, Applegate, Carolyn D., Salzberg, Yuval, Gilboa, Tal, Salah, Somaya, Shaag, Avraham, Simanovsky, Natalia, Ayoubieh, Houriya, Sobreira, Nara, Punzi, Giuseppe, Pierri, Ciro Leonardo, Hamosh, Ada, Elpeleg, Orly, Harel, Amnon, Edvardson, Simon
Τόπος έκδοσης Am J Hum Genet (2019)

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

ανά Stanley, Susan E., Gable, Dustin L., Wagner, Christa L., Carlile, Thomas M., Hanumanthu, Vidya Sagar, Podlevsky, Joshua D., Khalil, Sara E., DeZern, Amy E., Rojas-Duran, Maria F., Applegate, Carolyn D., Alder, Jonathan K., Parry, Erin M., Gilbert, Wendy V., Armanios, Mary
Τόπος έκδοσης Sci Transl Med (2016)

Diagnostic utility of telomere length testing in a hospital-based setting

ανά Alder, Jonathan K., Hanumanthu, Vidya Sagar, Strong, Margaret A., DeZern, Amy E., Stanley, Susan E., Takemoto, Clifford M., Danilova, Ludmilla, Applegate, Carolyn D., Bolton, Stephen G., Mohr, David W., Brodsky, Robert A., Casella, James F., Greider, Carol W., Jackson, J. Brooks, Armanios, Mary
Τόπος έκδοσης Proc Natl Acad Sci U S A (2018)

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

ανά Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas
Τόπος έκδοσης J Med Genet (2017)

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

ανά Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Akdemir, Zeynep Hande Coban, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.
Τόπος έκδοσης Genet Med (2016)

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

ανά Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d’Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A
Τόπος έκδοσης Brain (2020)