المؤلفون: Madison, Anita, Applegate, Carolyn, Stinnett, Victoria, Cross, Chantal, Vaught, Kamaria Cayton, Murry, Jaclyn

المصدر: Genetics in Medicine Open ; volume 2, page 101558 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101558
https://api.elsevier.com/content/article/PII:S2949774424007040?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424007040?httpAccept=text/plain

المؤلفون: Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Björnsson, Hans Tómas, Fahrner, Jill A.

المساهمون: Faculty of Medicine, Other departments

مصطلحات موضوعية: Lífefna- og sameindalíffræði, Genetics, Genetics (clinical)

وصف الملف: 1-18

Relation: Human Genetics; (); http://www.scopus.com/inward/record.url?scp=85150646041&partnerID=8YFLogxK; Harris , J R , Gao , C W , Britton , J F , Applegate , C D , Björnsson , H T & Fahrner , J A 2023 , ' Five years of experience in the Epigenetics and Chromatin Clinic : what have we learned and where do we go from here? ' , Human Genetics , pp. 1-18 . https://doi.org/10.1007/s00439-023-02537-1; 113532877; 64ef661c-3f4b-4067-a1ac-247e6c3a9fc5; 85150646041; unpaywall: 10.1007/s00439-023-02537-1; https://hdl.handle.net/20.500.11815/4136

الاتاحة: https://hdl.handle.net/20.500.11815/4136
https://doi.org/10.1007/s00439-023-02537-1

المؤلفون: Genetica, Genetica Klinische Genetica, Child Health, Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, 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.

URL: https://doi.org/10.3390/genes15081033
http://hdl.handle.net/1874/455860
https://dspace.library.uu.nl/handle/1874/455860
http://www.scopus.com/inward/record.url?scp=85202591411&partnerID=8YFLogxK
2073-4425
Genes
15
8
1033

المؤلفون: 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

المساهمون: National Heart, Lung, and Blood Institute, Boehringer Ingelheim, Bristol-Myers Squibb, Pulmonary Fibrosis Foundation, AstraZeneca

المصدر: CHEST ; volume 162, issue 2, page 394-405 ; ISSN 0012-3692

الاتاحة: http://dx.doi.org/10.1016/j.chest.2022.03.023
https://api.elsevier.com/content/article/PII:S0012369222005438?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0012369222005438?httpAccept=text/plain

المؤلفون: Mollenkopf, Nicole, Davidson, Patricia, Ph.D., M.Ed., R.N., Bodurtha, Joann, Francis, Lucine, Applegate, Carolyn, Luperchio, Teresa

مصطلحات موضوعية: University of Maryland, Baltimore. School of Nursing, Nursing Education Research, Education, Nursing, Genomic Medicine

Relation: http://hdl.handle.net/10713/21529

الاتاحة: http://hdl.handle.net/10713/21529

المؤلفون: Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, 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.

المصدر: Genes; Aug2024, Vol. 15 Issue 8, p1033, 13p

مصطلحات موضوعية: MISSENSE mutation, FACIAL abnormalities, INTELLECTUAL development, SLEEP disorders, INTELLECTUAL disabilities

المؤلفون: 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

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2018 Mar 01. 115(10), E2358-E2365.

URL الوصول: https://www.jstor.org/stable/26507900

المؤلفون: Applegate, Carolyn L.

Thesis Advisors: Hocevar,Susan Page, Thomas, Kenneth W., Information Systems Management

الاتاحة: http://hdl.handle.net/10945/28261

المؤلفون: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E. H., Volker-Touw, Catharina M. L., van Gassen, Koen L. I., van Binsbergen, Ellen, Pfundt, Rolph, Gardeitchik, Thatjana, de Vries, Bert B. A., Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Iqbal, Muhammad

المصدر: 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 , van Gassen , K L I , van Binsbergen , E ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/0cec700f-320f-489c-b994-f6f3010f048b
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048b
https://doi.org/10.1038/s41436-021-01114-z
https://pure.rug.nl/ws/files/177557532/s41436_021_01114_z.pdf

المؤلفون: Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Bjornsson, Hans T., Fahrner, Jill A.

المصدر: Human Genetics; Apr2024, Vol. 143 Issue 4, p607-624, 18p

مصطلحات موضوعية: EPIGENETICS, CHROMATIN, MEDICAL care, GENETIC disorders, DEVELOPMENTAL delay, FRAGILE X syndrome, P16 gene, EPIGENOMICS

المؤلفون: 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.

المصدر: 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 , Attaripour Isfahani , S , Baleine , J , Balint , B , Bassetti , J A , Baple , E L , Bhatia , K ....

مصطلحات موضوعية: KMT2B, deep brain stimulation (DBS), dystonia, genetics, neurodevelopment, SYSTEM, DYT1 DYSTONIA, GAIT, VARIANTS, FOLLOW-UP, GENERALIZED DYSTONIA, DATABASE, MUTATIONS, INSIGHTS, Humans, Child, Preschool, Endocrine System Diseases/complications, Male, Histone-Lysine N-Methyltransferase/genetics, Mutation, Missense, Dystonic Disorders/genetics, Laryngeal Diseases/etiology, Young Adult, Computer Simulation, Deep Brain Stimulation, Adult, Female, Fetal Growth Retardation/genetics

الاتاحة: https://pure.au.dk/portal/en/publications/9ecb64d1-d9c5-4e2e-9334-4f052717eb35
https://doi.org/10.1093/brain/awaa304
http://www.scopus.com/inward/record.url?scp=85097570939&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719027/pdf/awaa304.pdf

المؤلفون: Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K, Michael, Drew G, Deuitch, Natalie, Barron, Karyl, Stone, Deborah L, Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T, Beck, David B, Witmer, P Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A, Center, The American Genome, Dalgard, Clifton L, Center, Nih Intramural Sequencing, Kastner, Daniel L, Aksentijevich, Ivona

المساهمون: 1Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. oskar.schnappauf@nih.gov. 2Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. 3Department of Laboratory Medicine, Center for Genetic Medicine Research, Children's National, Washington, DC, USA. 4National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. 5Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, USA. 6McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 7Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 8Landspitali University Hospital, Reykjavik, Iceland. 9Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA. 10Collaborative Health Initiative Research Program, Henry Jackson Foundation, Bethesda, MD, USA. 11Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

المصدر: Journal of clinical immunology ; 40 ; 6 ; 917 ; 926 ; United States ; Netherlands

مصطلحات موضوعية: Exome sequencing, deficiency of adenosine deaminase 2, genome sequencing, loss-of-function variants

Relation: https://link.springer.com/article/10.1007/s10875-020-00817-3; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416912/; Schnappauf O, Zhou Q, Moura NS, et al. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. J Clin Immunol. 2020;40(6):917-926. doi:10.1007/s10875-020-00817-3; http://hdl.handle.net/2336/621503; Journal of clinical immunology

الاتاحة: http://hdl.handle.net/2336/621503
https://doi.org/10.1007/s10875-020-00817-3

المؤلفون: Luperchio, Teresa Romeo, Applegate, Carolyn D, Bodamer, Olaf, Bjornsson, Hans Tomas

المساهمون: 1 McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 2 Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 3 Broad Institute of MIT and Harvard University, Cambridge, MA, USA. 4 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 6 Landspitali University Hospital, Reykjavik, Iceland.

المصدر: Molecular genetics & genomic medicine ; e1072 ; United Kingdom ; United States

مصطلحات موضوعية: Heilkenni, Kabuki syndrome

Relation: Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Molecular Genetics & Genomic Medicine.doi:10.1002/mgg3.1072.; http://hdl.handle.net/2336/621257; Molecular genetics & genomic medicine

الاتاحة: http://hdl.handle.net/2336/621257
https://doi.org/10.1002/mgg3.1072

المؤلفون: 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

المساهمون: Israel Science Foundation, Baylor-Hopkins Center for Mendelian Genomics

المصدر: The American Journal of Human Genetics ; volume 105, issue 1, page 48-64 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.05.003
https://api.elsevier.com/content/article/PII:S0002929719301892?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719301892?httpAccept=text/plain

المؤلفون: 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

مصطلحات موضوعية: New disease loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/55/8/561; http://dx.doi.org/10.1136/jmedgenet-2017-104759

الاتاحة: http://jmg.bmj.com/cgi/content/short/55/8/561
https://doi.org/10.1136/jmedgenet-2017-104759

المؤلفون: Fiallos, Katie, Applegate, Carolyn, Mathews, Debra JH, Bollinger, Juli, Bergner, Amanda L, James, Cynthia A

المصدر: European Journal of Human Genetics ; volume 25, issue 5, page 530-537 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2017.21
http://www.nature.com/articles/ejhg201721.pdf
http://www.nature.com/articles/ejhg201721

المؤلفون: 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.

المصدر: Genetics in Medicine ; volume 19, issue 4, page 412-420 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2016.131
http://www.nature.com/articles/gim2016131.pdf
http://www.nature.com/articles/gim2016131
https://api.elsevier.com/content/article/PII:S1098360021024357?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021024357?httpAccept=text/plain

المؤلفون: Applegate, Carolyn D., Schiettecatte, François, Hamosh, Ada, Amberger, Joanna S.

المصدر: Current Protocols ; volume 2, issue 9 ; ISSN 2691-1299 2691-1299

الاتاحة: http://dx.doi.org/10.1002/cpz1.530
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.530
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cpz1.530
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.530

المؤلفون: Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Gassen, Koen L I van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B A de, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H, Yu, Timothy W

المساهمون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/442929

الاتاحة: https://dspace.library.uu.nl/handle/1874/442929

المؤلفون: Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A

المساهمون: Wellcome Trust

المصدر: Developmental Medicine & Child Neurology ; volume 56, issue 11, page 1124-1128 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.12450
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fdmcn.12450
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.12450