Diagnostic utility of telomere length testing in a hospital-based setting
Alder, Jonathan K., Hanumanthu, Vidya Sagar, Strong, Margaret A., DeZern, Amy E., Stanley, Susan E., Takemoto, Clifford M., Danilova, Ludmila, Applegate, Carolyn D., Bolton, Stephen G., Mohr, David W., Brodsky, Robert A., Casella, James F., Greider, Carol W., Jackson, J. Brooks, Armanios, Mary
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2018)
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Journal Article
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Bjornsson, Hans T., Fahrner, Jill A.
Published in Human genetics (01.04.2024)
Published in Human genetics (01.04.2024)
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Journal Article
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema
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
Published in Science translational medicine (10.08.2016)
Published in Science translational medicine (10.08.2016)
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Journal Article
Short telomere syndromes cause a primary T cell immunodeficiency
Wagner, Christa L, Hanumanthu, Vidya Sagar, Talbot, Jr, 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
Published in The Journal of clinical investigation (01.12.2018)
Published in The Journal of clinical investigation (01.12.2018)
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Journal Article
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
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
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
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, Sacoto, Maria J Guillen, Bowman, Gregory D, Bjornsson, Hans T
Published in Journal of medical genetics (01.08.2018)
Published in Journal of medical genetics (01.08.2018)
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Journal Article
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Coban Akdemir, Zeynep Hande, 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.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Journal Article
CRB1-Related Maculopathy With Cystoid Macular Edema
Wolfson, Yulia, Applegate, Carolyn D, Strauss, Rupert W, Han, Ian C, Scholl, Hendrik P
Published in JAMA ophthalmology (01.11.2015)
Published in JAMA ophthalmology (01.11.2015)
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Journal Article
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results
Berrios, Courtney, James, Cynthia A., Raraigh, Karen, Bollinger, Juli, Murray, Brittney, Tichnell, Crystal, Applegate, Carolyn D., Bergner, Amanda L.
Published in Journal of genetic counseling (01.02.2018)
Published in Journal of genetic counseling (01.02.2018)
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Journal Article
P653: Mosaic X-ring chromosomes (45,X/46,X,r(X)) in Turner syndrome (TS): A case series highlighting 42 years of experience in a single-institution
Madison, Anita, Applegate, Carolyn, Stinnett, Victoria, Cross, Chantal, Vaught, Kamaria Cayton, Murry, Jaclyn
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloe, Agrawal, Pankaj B, Agre, Katherine, Applegate, Carolyn D, Beggs, Alan H, Bjornsson, Hans T, Callewaert, Bert, Chen, Mei-Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R, Gavrilova, Ralitza, Genetti, Casie A, Hiatt, Susan M, Hildebrandt, Friedhelm, Wojcik, Monica H, Kleefstra, Tjitske, Kolvenbach, Caroline M, Korf, Bruce R, Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R, Reijnders, Margot R. F, Reutter, Heiko, Schanze, Ina, Shieh, Joseph T, Stevens, Cathy A, Valivullah, Zaheer, van den Boogaard, Marie-José, Klee, Eric W, Campeau, Philippe M
Published in Genes (01.08.2024)
Published in Genes (01.08.2024)
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Journal Article
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Applegate, Carolyn, Batista, Denise A. S., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie
Published in Case reports in genetics (01.01.2015)
Published in Case reports in genetics (01.01.2015)
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Journal Article
The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group
Newton, Chad A, Oldham, Justin M, Applegate, Carolyn, Carmichael, Nikkola, Powell, Karen, Dilling, Dan, Schmidt, Shelley L, Scholand, Mary Beth, Armanios, Mary, Garcia, Christine Kim, Kropski, Jonathan A, Talbert, Janet
Published in Chest (01.08.2022)
Published in Chest (01.08.2022)
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Journal Article
The Role of Genetic Testing in Pulmonary Fibrosis
Newton, Chad A., Oldham, Justin M., Applegate, Carolyn, Carmichael, Nikkola, Powell, Karen, Dilling, Dan, Schmidt, Shelley L., Scholand, Mary Beth, Armanios, Mary, Garcia, Christine Kim, Kropski, Jonathan A., Talbert, Janet
Published in Chest (01.08.2022)
Published in Chest (01.08.2022)
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Journal Article
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease
Fiallos, Katie, Applegate, Carolyn, Mathews, Debra Jh, Bollinger, Juli, Bergner, Amanda L, James, Cynthia A
Published in European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
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Journal Article
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
Duis, Jessica, Dean, Shannon, Applegate, Carolyn, Harper, Amy, Xiao, Rui, He, Weimin, Dollar, James D., Sun, Lisa R., Waberski, Marta Biderman, Crawford, Thomas O., Hamosh, Ada, Stafstrom, Carl E.
Published in Annals of neurology (01.10.2016)
Published in Annals of neurology (01.10.2016)
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Journal Article
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
Okur, Volkan, Cho, Megan T., Henderson, Lindsay, Retterer, Kyle, Schneider, Michael, Sattler, Shannon, Niyazov, Dmitriy, Azage, Meron, Smith, Sharon, Picker, Jonathan, Lincoln, Sharyn, Tarnopolsky, Mark, Brady, Lauren, Bjornsson, Hans T., Applegate, Carolyn, Dameron, Amy, Willaert, Rebecca, Baskin, Berivan, Juusola, Jane, Chung, Wendy K.
Published in Human genetics (01.07.2016)
Published in Human genetics (01.07.2016)
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Journal Article