المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O'Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, Loss-of-function, Cohesin, CdLS3, LoF

وصف الملف: application/pdf

العلاقة: Human Genetics and Genomics Advances; Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024;5(2):100273. doi:10.1016/j.xhgg.2024.100273; https://hdl.handle.net/1805/41518Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100273Test
https://hdl.handle.net/1805/41518Test

المؤلفون: Zhang, Hanmeng, Daheron, Laurence, Cerna-Chavez, Rodrigo, Place, Emily M., Huckfeldt, Rachel M., Pierce, Eric A., Garita-Hernandez, Marcela

المصدر: Stem Cell Research ; volume 74, page 103280 ; ISSN 1873-5061

مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.scr.2023.103280Test
https://api.elsevier.com/content/article/PII:S1873506123002660?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506123002660?httpAccept=text/plainTest

المؤلفون: da Palma, Mariana, Igelman, Austin, Ku, Cristy, Burr, Amanda, You, Jia, Place, Emily, Wang, Nan-Kai, Oh, Jin, Branham, Kari, Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael, Lam, Byron, Ronquillo, Cecinio, Bernstein, Paul, Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle, Kelly, John, Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert, Zein, Wadih, Koenekoop, Robert, Birch, David, Yang, Paul, Fahim, Abigail, Pennesi, Mark

المصدر: Investigative Ophthalmology and Visual Science. 62(7)

مصطلحات موضوعية: Adult, Alagille Syndrome, Diagnosis, Differential, Eye Diseases, Hereditary, Female, Fluorescein Angiography, Genetic Testing, Humans, Jagged-1 Protein, Male, Medical Records, Mutation, Optic Disk, Optical Imaging, Retina, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/43p780wzTest

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O'Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome (CdLS), Cohesin, Loss-of-function

وصف الملف: application/pdf

العلاقة: Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Preprint. medRxiv. 2023;2023.09.27.23294269. Published 2023 Sep 28. doi:10.1101/2023.09.27.23294269; https://hdl.handle.net/1805/39578Test

الإتاحة: https://doi.org/10.1101/2023.09.27.23294269Test
https://hdl.handle.net/1805/39578Test

المؤلفون: Shah, Nidhi, Gold, Nina, Adelson, Sophia, Williams, Shardae, Bick, Sarah, Gold, Jessica, Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy, Walker, Melissa, Holtz, Alexander, Sankaran, Vijay, Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid, Thiagarajah, Jay, Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100444 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100444Test
https://api.elsevier.com/content/article/PII:S2949774423004442?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423004442?httpAccept=text/plainTest

المؤلفون: O'Connell, Kaitlin, Borchert, John, Comander, Jason, Huckfeldt, Rachel, Pierce, Eric, Place, Emily

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100287 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100287Test
https://api.elsevier.com/content/article/PII:S294977442300287X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442300287X?httpAccept=text/plainTest

المؤلفون: Hauser, Blake M., Luo, Yuyang, Nathan, Anusha, Al-Moujahed, Ahmad, Vavvas, Demetrios G., Comander, Jason, Pierce, Eric A., Place, Emily M., Bujakowska, Kinga M., Gaiha, Gaurav D., Rossin, Elizabeth J.

المصدر: NPJ Genomic Medicine; 5/27/2024, Vol. 9 Issue 1, p1-11, 11p

المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne

المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21

العلاقة: https://doi.org/10.1056/NEJMoa2314761Test; https://pubmed.ncbi.nlm.nih.gov/38838312Test

الإتاحة: https://doi.org/10.1056/NEJMoa2314761Test
https://pubmed.ncbi.nlm.nih.gov/38838312Test

المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O'Heir, Emily, Ganesh, Vijay S, Wojcik, Monica H, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L, Neil, Jennifer E, Shao, Diane D, Walsh, Christopher A, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H, Gleeson, Joseph G, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G, Madden, Jill A, Genetti, Casie A, Beggs, Alan H, Agrawal, Pankaj B, Bujakowska, Kinga M, Place, Emily, Pierce, Eric A, Donkervoort, Sandra, Bönnemann, Carsten G, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M, Töpf, Ana, Straub, Volker, Fleming, Mark D, Pollak, Martin R, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G, MacArthur, Daniel G, Rehm, Heidi L, Talkowski, Michael E, Brand, Harrison, O'Donnell-Luria, Anne

المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:111 ; Issue:5

مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification

العلاقة: https://doi.org/10.1016/j.ajhg.2024.03.008Test; https://pubmed.ncbi.nlm.nih.gov/38565148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.008Test
https://pubmed.ncbi.nlm.nih.gov/38565148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/

المؤلفون: Bleicher, Isaac D., Garg, Itika, Hoyek, Sandra, Place, Emily, Miller, John B., Patel, Nimesh A.

المصدر: RETINAL Cases & Brief Reports ; volume 18, issue 1, page 80-86 ; ISSN 1935-1089

الإتاحة: https://doi.org/10.1097/icb.0000000000001307Test