المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tc3h13f

المؤلفون: Larson, Catherine Cody, O'Donnell, Louise, Soileau, Bridgette, Van Riper, Marcia, Stark, Debra, Hale, Daniel E., Cody, Jannine D.

المصدر: School of Medicine Publications and Presentations

مصطلحات موضوعية: chromosome 18, sibling relationships, special needs siblings, Medicine and Health Sciences

Relation: https://scholarworks.utrgv.edu/som_pub/1397; https://onlinelibrary.wiley.com/share/PUI4BHRYX8JJUUAGSVZG?target=10.1002/jgc4.1823

الاتاحة: https://scholarworks.utrgv.edu/som_pub/1397
https://doi.org/10.1002/jgc4.1823
https://onlinelibrary.wiley.com/share/PUI4BHRYX8JJUUAGSVZG?target=10.1002/jgc4.1823

المؤلفون: Carey, John, Cody, Jannine, Mehl, Justin, Gelfond, Jonathan

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100167 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100167
https://api.elsevier.com/content/article/PII:S294977442300167X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442300167X?httpAccept=text/plain

المؤلفون: Larson, Catherine Cody, O'Donnell, Louise, Soileau, Bridgette, Van Riper, Marcia, Stark, Debra, Hale, Daniel E., Cody, Jannine D.

المصدر: Journal of Genetic Counseling; Oct2024, Vol. 33 Issue 5, p1070-1081, 12p

المؤلفون: Cody, Jannine D.

المصدر: Human Ring Chromosomes ; page 261-270 ; ISBN 9783031475290 9783031475306

الاتاحة: http://dx.doi.org/10.1007/978-3-031-47530-6_22
https://link.springer.com/content/pdf/10.1007/978-3-031-47530-6_22

المؤلفون: Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: The American Journal of Human Genetics ; volume 109, issue 8, page 1353-1365 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.07.003
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/plain

المؤلفون: Cody, Jannine D.

المصدر: Genetics in Medicine ; volume 22, issue 1, page 234-235 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0619-6
http://www.nature.com/articles/s41436-019-0619-6.pdf
http://www.nature.com/articles/s41436-019-0619-6
https://api.elsevier.com/content/article/PII:S1098360021011126?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021011126?httpAccept=text/plain

المؤلفون: Mehl, Justin M., Gelfond, Jonathan, Carey, John C., Cody, Jannine D.

المصدر: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p279-287, 9p

المؤلفون: Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid D., Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert, Thibert, Ronald L., Benoist, Ingrid, Clayton-Smith, Jill, De Winter, Channa F., Deckers, Stijn, Gandhi, Anusha, Huisman, Sylvia, Kempink, Dagmar, Kruisinga, Frea, Lamacchia, Vittoria, Marangi, Giuseppe, Menke, Leonie, Mulder, Paul, Nordgren, Ann, Renieri, Alessandra, Routledge, Sue, Saunders, Carol J., Stembalska, Agnieszka, Van Balkom, Hans, Whalen, Sandra, Hennekam, Raoul C.

المصدر: Zollino , M , Zweier , C , Van Balkom , I D , Sweetser , D A , Alaimo , J , Bijlsma , E K , Cody , J , Elsea , S H , Giurgea , I , Macchiaiolo , M , Smigiel , R , Thibert , R L , Benoist , I , Clayton-Smith , J , De Winter , C F , Deckers , S , Gandhi , A , Huisman , S , Kempink , D , Kruisinga , F , Lamacchia , V , Marangi , G , Menke , L ....

مصطلحات موضوعية: autonomic dysfunction, diagnostic criteria, guidelines, molecular diagnostic pathway, Pitt-Hopkins syndrome, syndromic behavior, TCF4, CENTRAL SLEEP-APNEA, HELIX TRANSCRIPTION FACTOR, MENTAL-RETARDATION, INTELLECTUAL DISABILITY, TCF4 GENE, PEDIATRIC GASTROENTEROLOGY, EUROPEAN-SOCIETY, CLINICAL SCORE, FACTOR E2-2, DELETION

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/801a67be-672e-4a2d-bb88-8cd5bdf886d2
https://research.rug.nl/en/publications/801a67be-672e-4a2d-bb88-8cd5bdf886d2
https://doi.org/10.1111/cge.13506
https://pure.rug.nl/ws/files/92807682/Zollino_et_al_2019_Clinical_Genetics.pdf

المؤلفون: Gould, Georgianna G., Brady, Abigail, Edwards, Marshall T, Garbarino, Valentina R, Sanchez, Alicia, Cody, Jannine D.

المصدر: The FASEB Journal ; volume 33, issue S1 ; ISSN 0892-6638 1530-6860

الاتاحة: http://dx.doi.org/10.1096/fasebj.2019.33.1_supplement.501.12

المؤلفون: Mehl, Justin M., Gelfond, Jonathan, Carey, John C., Cody, Jannine D.

المساهمون: Chromosome 18 Registry & Research Society

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 2, page 279-287 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63436
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63436

المؤلفون: Balog, Judit, Goossens, Remko, Lemmers, Richard J L F, Straasheijm, Kirsten R, van der Vliet, Patrick J, Heuvel, Anita van den, Cambieri, Chiara, Capet, Nicolas, Feasson, Léonard, Manel, Veronique, Contet, Julian, Kriek, Marjolein, Donlin-Smith, Colleen M, Ruivenkamp, Claudia A L, Heard, Patricia, Tapscott, Stephen J, Cody, Jannine D, Tawil, Rabi, Sacconi, Sabrina, van der Maarel, Silvère M

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/55/7/469; http://dx.doi.org/10.1136/jmedgenet-2017-105153

الاتاحة: http://jmg.bmj.com/cgi/content/short/55/7/469
https://doi.org/10.1136/jmedgenet-2017-105153

المؤلفون: Cody, Jannine D., Hasi‐Zogaj, Minire, Heard, Patricia, Hill, Annice, Rupert, David, Sebold, Courtney, Soileau, Bridgette, Hale, Daniel E.

المساهمون: Chromosome 18 Registry & Research Society

المصدر: Molecular Genetics & Genomic Medicine ; volume 6, issue 3, page 416-421 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.385
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.385
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.385

المؤلفون: Hennig, Krista M., Fass, Daniel M., Zhao, Wen-Ning, Sheridan, Steven D., Fu, Ting, Erdin, Serkan, Stortchevoi, Alexei, Lucente, Diane, Cody, Jannine D., Sweetser, David, Gusella, James F., Talkowski, Michael E., Haggarty, Stephen J.

المصدر: Complex Psychiatry ; volume 3, issue 1, page 53-71 ; ISSN 2673-3005 2673-298X

الاتاحة: http://dx.doi.org/10.1159/000475666
https://www.karger.com/Article/Pdf/475666

المؤلفون: Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine

المساهمون: Sullivan, Beth A.

المصدر: PLoS Genetics ; volume 10, issue 1, page e1004139 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1004139
http://dx.plos.org/10.1371/journal.pgen.1004139

المؤلفون: Gelfond, Jonathan A, Ibrahim, Joseph G, Gupta, Mayetri, Chen, Ming-Hui, Cody, Jannine D

Relation: http://www.biomedcentral.com/1471-2105/14/258

الاتاحة: http://www.biomedcentral.com/1471-2105/14/258

المؤلفون: Tragus, Robin, Cody, Jannine D.

المصدر: Clinical and Translational Science ; volume 6, issue 3, page 244-247 ; ISSN 1752-8054 1752-8062

الاتاحة: http://dx.doi.org/10.1111/cts.12037
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcts.12037
https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1111/cts.12037

المؤلفون: Hermetz Karen E, Surti Urvashi, Cody Jannine D, Rudd M Katharine

المصدر: Molecular Cytogenetics, Vol 5, Iss 1, p 6 (2012)

مصطلحات موضوعية: HERV-H, HERV, NAHR, translocation, t(4, 18), recurrent translocation, 4q35.1, 18q22.3, 18q, Genetics, QH426-470

Relation: http://www.molecularcytogenetics.org/content/5/1/6; https://doaj.org/toc/1755-8166; https://doaj.org/article/022306f59b0049ac87ead9cdf7e5e76c

الاتاحة: https://doi.org/10.1186/1755-8166-5-6
https://doaj.org/article/022306f59b0049ac87ead9cdf7e5e76c

المؤلفون: Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/ddr293v2; http://dx.doi.org/10.1093/hmg/ddr293

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/ddr293v2
https://doi.org/10.1093/hmg/ddr293

المؤلفون: Cody, Jannine

المصدر: Genetics in Medicine ; volume 11, issue 9, page 682-683 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/gim.0b013e3181b6682c
https://api.elsevier.com/content/article/PII:S1098360021039575?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021039575?httpAccept=text/plain