Carolyn Applegate

2025

Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution

Madison, A., Applegate, C., Stinnett, V., Miranda, D. M., Cross, C., Vaught, K. C., Zou, Y. S. & Murry, J. B., Dec 2025, In: Scientific reports. 15, 1, 12836.

Research output: Contribution to journal › Article › peer-review

2024

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

Borroto, M. C., Michaud, C., Hudon, C., Agrawal, P. B., Agre, K., Applegate, C. D., Beggs, A. H., Bjornsson, H. T., Callewaert, B., Chen, M. J., Curry, C., Devinsky, O., Dudding-Byth, T., Fagan, K., Finnila, C. R., Gavrilova, R., Genetti, C. A., Hiatt, S. M., Hildebrandt, F. & Wojcik, M. H. & 18 others, Kleefstra, T., Kolvenbach, C. M., Korf, B. R., Kruszka, P., Li, H., Litwin, J., Marcadier, J., Platzer, K., Blackburn, P. R., Reijnders, M. R. F., Reutter, H., Schanze, I., Shieh, J. T., Stevens, C. A., Valivullah, Z., van den Boogaard, M. J., Klee, E. W. & Campeau, P. M., Aug 2024, In: Genes. 15, 8, 1033.

Research output: Contribution to journal › Article › peer-review

Open Access

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

Harris, J. R., Gao, C. W., Britton, J. F., Applegate, C. D., Bjornsson, H. T. & Fahrner, J. A., Apr 2024, In: Human genetics. 143, 4, p. 607-624 18 p.

Research output: Contribution to journal › Article › peer-review

2022

Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout

Applegate, C. D., Schiettecatte, F., Hamosh, A. & Amberger, J. S., Sep 2022, In: Current Protocols. 2, 9, e530.

Research output: Contribution to journal › Article › peer-review

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group

Pulmonary Fibrosis Foundation Genetic Testing Work Group, Aug 2022, In: CHEST. 162, 2, p. 394-405 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., Tiller, G. E., Lesca, G., Gripp, K. W., Asadollahi, R., Hamosh, A., Applegate, C. D., Turnpenny, P. D., Simon, M. E. H., Volker-Touw, C. M. L. & Gassen, K. L. I. V. & 61 others, Binsbergen, E. V., Pfundt, R., Gardeitchik, T., Vries, B. B. A. D., Immken, L. D. L., Buchanan, C., Willing, M., Toler, T. L., Fassi, E., Baker, L., Vansenne, F., Wang, X., Ambrus, J. L., Fannemel, M., Posey, J. E., Agolini, E., Novelli, A., Rauch, A., Boonsawat, P., Fagerberg, C. R., Larsen, M. J., Kibaek, M., Labalme, A., Poisson, A., Payne, K. K., Walsh, L. E., Aldinger, K. A., Balciuniene, J., Skraban, C., Gray, C., Murrell, J., Bupp, C. P., Pascolini, G., Grammatico, P., Broly, M., Küry, S., Nizon, M., Rasool, I. G., Zahoor, M. Y., Kraus, C., Reis, A., Iqbal, M., Uguen, K., Audebert-Bellanger, S., Ferec, C., Redon, S., Baker, J., Wu, Y., Zampino, G., Syrbe, S., Brosse, I., Jamra, R. A., Dobyns, W. B., Cohen, L. L., Blomhoff, A., Mignot, C., Keren, B., Courtin, T., Agrawal, P. B., Beggs, A. H. & Yu, T. W., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1028-1040 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Schnappauf, O., Zhou, Q., Moura, N. S., Ombrello, A. K., Michael, D. G., Deuitch, N., Barron, K., Stone, D. L., Hoffmann, P., Hershfield, M., Applegate, C., Bjornsson, H. T., Beck, D. B., Witmer, P. D., Sobreira, N., Wohler, E., Chiorini, J. A., Center, T. A. G., Dalgard, C. L. & Center, N. I. S. & 2 others, Kastner, D. L. & Aksentijevich, I., Aug 1 2020, In: Journal of Clinical Immunology. 40, 6, p. 917-926 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

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

Cif, L., Demailly, D., Lin, J. P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., Meyer, E., Vasques, X., Rankin, J., Allain, M. W., Applegate, C. D., Isfahani, S. A., Baleine, J. & Balint, B. & 91 others, Bassetti, J. A., Baple, E. L., Bhatia, K. P., Blanchet, C., Burglen, L., Cambonie, G., Seng, E. C., Bastaraud, S. C., Cyprien, F., Coubes, C., d’Hardemare, V., Doja, A., Dorison, N., Doummar, D., Dy-Hollins, M. E., Farrelly, E., Fitzpatrick, D. R., Fearon, C., Fieg, E. L., Fogel, B. L., Forman, E. B., Fox, R. G., Gahl, W. A., Galosi, S., Gonzalez, V., Graves, T. D., Gregory, A., Hallett, M., Hasegawa, H., Hayflick, S. J., Hamosh, A., Hully, M., Jansen, S., Jeong, S. Y., Krier, J. B., Krystal, S., Kumar, K. R., Laurencin, C., Lee, H., Lesca, G., François, L. L., Lynch, T., Mahant, N., Martinez-Agosto, J. A., Milesi, C., Mills, K. A., Mondain, M., Morales-Briceno, H., Ostergaard, J. R., Pal, S., Pallais, J. C., Pavillard, F., Perrigault, P. F., Petersen, A. K., Polo, G., Poulen, G., Rinne, T., Roujeau, T., Rogers, C., Roubertie, A., Sahagian, M., Schaefer, E., Selim, L., Selway, R., Sharma, N., Signer, R., Soldatos, A. G., Stevenson, D. A., Stewart, F., Tchan, M., Verma, I. C., de Vries, B. B. A., Wilson, J. L., Wong, D. A., Zaitoun, R., Zhen, D., Znaczko, A., Dale, R. C., de Gusmão, C. M., Friedman, J., Fung, V. S. C., King, M. D., Mohammad, S. S., Rohena, L., Waugh, J. L., Toro, C., Raymond, F. L., Topf, M., Coubes, P., Gorman, K. M. & Kurian, M. A., 2020, In: Brain. 143, 11, p. 3242-3261 20 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

2019

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

Fichtman, B., Harel, T., Biran, N., Zagairy, F., Applegate, C. D., Salzberg, Y., Gilboa, T., Salah, S., Shaag, A., Simanovsky, N., Ayoubieh, H., Sobreira, N., Punzi, G., Pierri, C. L., Hamosh, A., Elpeleg, O., Harel, A. & Edvardson, S., Jul 3 2019, In: American journal of human genetics. 105, 1, p. 48-64 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

2018

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

Alder, J. K., Hanumanthu, V. S., Strong, M. A., DeZern, A. E., Stanley, S. E., Takemoto, C. M., Danilova, L., Applegate, C. D., Bolton, S. G., Mohr, D. W., Brodsky, R. A., Casella, J. F., Greider, C. W., Brooks Jackson, J. & Armanios, M., Mar 6 2018, In: Proceedings of the National Academy of Sciences of the United States of America. 115, 10, p. E2358-E2365

Research output: Contribution to journal › Article › peer-review

Open Access

64 Scopus citations

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, C., James, C. A., Raraigh, K., Bollinger, J., Murray, B., Tichnell, C., Applegate, C. D. & Bergner, A. L., Feb 1 2018, In: Journal of Genetic Counseling. 27, 1, p. 263-273 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

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

Pilarowski, G. O., Vernon, H. J., Applegate, C. D., Boukas, L., Cho, M. T., Gurnett, C. A., Benke, P. J., Beaver, E., Heeley, J. M., Medne, L., Krantz, I. D., Azage, M., Niyazov, D., Henderson, L. B., Wentzensen, I. M., Baskin, B., Sacoto, M. J. G., Bowman, G. D. & Bjornsson, H. T., Aug 1 2018, In: Journal of medical genetics. 55, 8, p. 561-566 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

Short telomere syndromes cause a primary T cell immunodeficiency

Wagner, C. L., Hanumanthu, V. S., Conover Talbot, C., Abraham, R. S., Hamm, D., Gable, D. L., Kanakry, C. G., Applegate, C. D., Siliciano, J., Brooks Jackson, J., Desiderio, S., Alder, J. K., Luznik, L. & Armanios, M., Dec 3 2018, In: Journal of Clinical Investigation. 128, 12, p. 5222-5234 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

30 Scopus citations

2017

Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease

Fiallos, K., Applegate, C., Mathews, D. J. H., Bollinger, J., Bergner, A. L. & James, C. A., May 1 2017, In: European Journal of Human Genetics. 25, 5, p. 530-537 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

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, M. R., Bekheirnia, N., Bainbridge, M. N., Gu, S., Akdemir, Z. H. C., Gambin, T., Janzen, N. K., Jhangiani, S. N., Muzny, D. M., Michael, M., Brewer, E. D., Elenberg, E., Kale, A. S., Riley, A. A., Swartz, S. J., Scott, D. A., Yang, Y., Srivaths, P. R., Wenderfer, S. E. & Bodurtha, J. & 16 others, Applegate, C. D., Velinov, M., Myers, A., Borovik, L., Craigen, W. J., Hanchard, N. A., Rosenfeld, J. A., Lewis, R. A., Gonzales, E. T., Gibbs, R. A., Belmont, J. W., Roth, D. R., Eng, C., Braun, M. C., Lupski, J. R. & Lamb, D. J., Apr 1 2017, In: Genetics in Medicine. 19, 4, p. 412-420 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

36 Scopus citations

2016

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky, M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J. & Chung, W. K., Jul 1 2016, In: Human genetics. 135, 7, p. 699-705 7 p.

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Duis, J., Dean, S., Applegate, C., Harper, A., Xiao, R., He, W., Dollar, J. D., Sun, L. R., Waberski, M. B., Crawford, T. O., Hamosh, A. & Stafstrom, C. E., Oct 1 2016, In: Annals of neurology. 80, 4, p. 633-637 5 p.

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

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

Stanley, S. E., Gable, D. L., Wagner, C. L., Carlile, T. M., Hanumanthu, V. S., Podlevsky, J. D., Khalil, S. E., De Zern, A. E., Rojas-Duran, M. F., Applegate, C. D., Alder, J. K., Parry, E. M., Gilbert, W. V. & Armanios, M., Aug 10 2016, In: Science translational medicine. 8, 351, 351ra107.

Research output: Contribution to journal › Article › peer-review

Open Access

94 Scopus citations

2015

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

Weiss, K., Applegate, C., Wang, T. & Batista, D., Nov 2015, In: American Journal of Medical Genetics, Part A. 167, 11, p. 2702-2706 5 p.

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

2014

High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: A case report

Wolf, D. S., Golden, W. C., Hoover-Fong, J., Applegate, C., Cohen, B. A., Germain-Lee, E. L., Goldberg, M. F., Crawford, T. O. & Gauda, E. B., Jan 2014, In: Journal of child neurology. 30, 1, p. 100-106 7 p.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Severe infantile epileptic encephalopathy due to mutations in PLCB1: Expansion of the genotypic and phenotypic disease spectrum

Ngoh, A., Mctague, A., Wentzensen, I. M., Meyer, E., Applegate, C., Kossoff, E. H., Batista, D. A., Wang, T. & Kurian, M. A., Nov 1 2014, In: Developmental medicine and child neurology. 56, 11, p. 1124-1128 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

The impact of chromosomal microarray on clinical management: A retrospective analysis

Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J. & Batista, D., Sep 11 2014, In: Genetics in Medicine. 16, 9, p. 657-664 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

46 Scopus citations

2013

A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities

Lemmon, M. E., Lavenstein, B., Applegate, C. D., Hamosh, A., Tekes, A. & Singer, H. S., Dec 2013, In: Movement Disorders. 28, 14, p. 1937-1938 2 p.

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Burnside, R. D., Pappas, J. G., Sacharow, S., Applegate, C., Hamosh, A., Gadi, I. K., Jaswaney, V., Keitges, E., Phillips, K. K., Potluri, V. R., Risheg, H., Smith, J. L., Tepperberg, J. H., Schwartz, S. & Papenhausen, P., Apr 2013, In: American Journal of Medical Genetics, Part A. 161, 4, p. 822-828 7 p.

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

2012

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

Fahrner, J. A., Frazier, A., Bachir, S., Walsh, M. F., Applegate, C. D., Thompson, R., Halushka, M., Murphy, A. M. & Gunay-Aygun, M., Jun 2012, In: American Journal of Medical Genetics, Part A. 158 A, 6, p. 1414-1421 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

Carolyn Applegate

Research output

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