Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders
Uusküla-Reimand, Liis, Hou, Huayun, Samavarchi-Tehrani, Payman, Rudan, Matteo Vietri, Liang, Minggao, Medina-Rivera, Alejandra, Mohammed, Hisham, Schmidt, Dominic, Schwalie, Petra, Young, Edwin J, Reimand, Jüri, Hadjur, Suzana, Gingras, Anne-Claude, Wilson, Michael D
Published in Genome Biology (31.08.2016)
Published in Genome Biology (31.08.2016)
Get full text
Journal Article
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Mervis, Carolyn B., Dida, Joana, Lam, Emily, Crawford-Zelli, Nicole A., Young, Edwin J., Henderson, Danielle R., Onay, Tuncer, Morris, Colleen A., Woodruff-Borden, Janet, Yeomans, John, Osborne, Lucy R.
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
Get full text
Journal Article
A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder
Tsiplova, Kate, Zur, Richard M, Marshall, Christian R, Stavropoulos, Dimitri J, Pereira, Sergio L, Merico, Daniele, Young, Edwin J, Sung, Wilson W L, Scherer, Stephen W, Ungar, Wendy J
Published in Genetics in medicine (01.11.2017)
Published in Genetics in medicine (01.11.2017)
Get full text
Journal Article
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings
Lenherr-Taube, Nina, Young, Edwin J, Furman, Michelle, Elia, Yesmino, Assor, Esther, Chitayat, David, Uster, Tami, Kirwin, Susan, Robbins, Katherine, Vinette, Kathleen M B, Daneman, Alan, Marshall, Christian R, Collins, Carol, Thummel, Kenneth, Sochett, Etienne, Levine, Michael A
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
Get full text
Journal Article
MACE: model based analysis of ChIP-exo
Wang, Liguo, Chen, Junsheng, Wang, Chen, Uusküla-Reimand, Liis, Chen, Kaifu, Medina-Rivera, Alejandra, Young, Edwin J, Zimmermann, Michael T, Yan, Huihuang, Sun, Zhifu, Zhang, Yuji, Wu, Stephen T, Huang, Haojie, Wilson, Michael D, Kocher, Jean-Pierre A, Li, Wei
Published in Nucleic acids research (10.11.2014)
Published in Nucleic acids research (10.11.2014)
Get full text
Journal Article
Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
Somerville, Martin J, Mervis, Carolyn B, Young, Edwin J, Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A, Morris, Colleen A, Scherer, Stephen W, Osborne, Lucy R
Published in The New England journal of medicine (20.10.2005)
Published in The New England journal of medicine (20.10.2005)
Get full text
Journal Article
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma
Mistry, Matthew, Zhukova, Nataliya, Merico, Daniele, Rakopoulos, Patricia, Krishnatry, Rahul, Shago, Mary, Stavropoulos, James, Alon, Noa, Pole, Jason D, Ray, Peter N, Navickiene, Vilma, Mangerel, Joshua, Remke, Marc, Buczkowicz, Pawel, Ramaswamy, Vijay, Guerreiro Stucklin, Ana, Li, Martin, Young, Edwin J, Zhang, Cindy, Castelo-Branco, Pedro, Bakry, Doua, Laughlin, Suzanne, Shlien, Adam, Chan, Jennifer, Ligon, Keith L, Rutka, James T, Dirks, Peter B, Taylor, Michael D, Greenberg, Mark, Malkin, David, Huang, Annie, Bouffet, Eric, Hawkins, Cynthia E, Tabori, Uri
Published in Journal of clinical oncology (20.03.2015)
Published in Journal of clinical oncology (20.03.2015)
Get full text
Journal Article
Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
Get full text
Journal Article
Mutations in NHLRC1 cause progressive myoclonus epilepsy
Minassian, Berge A, Scherer, Stephen W, Chan, Elayne M, Young, Edwin J, Ianzano, Leonarda, Munteanu, Iulia, Zhao, Xiaochu, Christopoulos, Constantine C, Avanzini, Giuliano, Elia, Maurizio, Ackerley, Cameron A, Jovic, Nebojsa J, Bohlega, Saeed, Andermann, Eva, Rouleau, Guy A, Delgado-Escueta, Antonio V
Published in Nature genetics (01.10.2003)
Published in Nature genetics (01.10.2003)
Get full text
Journal Article
A large data resource of genomic copy number variation across neurodevelopmental disorders
Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
Published in Npj genomic medicine (07.10.2019)
Published in Npj genomic medicine (07.10.2019)
Get full text
Journal Article
Impact of Prescription Patterns on Compliance With Follow-Up Visits at an Urban Teaching Primary Care Continuity Clinic
Sorita, Atsushi, Funakoshi, Tomohiro, Kashan, Glenn, Young, Edwin R., Park, Jayson
Published in Journal of primary care & community health (01.07.2014)
Published in Journal of primary care & community health (01.07.2014)
Get full text
Journal Article
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
Published in American journal of medical genetics. Part A (15.07.2008)
Published in American journal of medical genetics. Part A (15.07.2008)
Get full text
Journal Article
Expanded repeat in canine epilepsy
Lohi, H, Young, E.J, Fitzmaurice, S.N, Rusbridge, C, Chan, E.M, Vervoort, M, Turnbull, J, Zhao, X.C, Ianzano, L, Paterson, A.D
Published in Science (American Association for the Advancement of Science) (07.01.2005)
Published in Science (American Association for the Advancement of Science) (07.01.2005)
Get full text
Journal Article
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
Ianzano, Leonarda, Young, Edwin J., Zhao, Xiao C., Chan, Elayne M., Rodriguez, M. T., Torrado, Maria V., Scherer, Stephen W., Minassian, Berge A.
Published in Human mutation (01.02.2004)
Published in Human mutation (01.02.2004)
Get full text
Journal Article
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
Minassian, Berge A., Andrade, Danielle M., Ianzano, Leonarda, Young, Edwin J., Chan, Elayne, Ackerley, Cameron A., Scherer, Stephen W.
Published in Annals of neurology (01.02.2001)
Published in Annals of neurology (01.02.2001)
Get full text
Journal Article
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada J.S., Engchuan, Worrawat, Higginbotham, Edward J., Howe, Jennifer L., Loureiro, Livia O., Reuter, Miriam S., Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan V., Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey R., Wei, John, Sung, Wilson W.L., Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin J., Ding, Qiliang, Shum, Carole, D'Abate, Lia, Bradley, Clarrisa A., Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew L.Y., Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio L., Herbrick, Jo-Anne, Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael J., Zawati, Ma'n H., Lang, Michael, Strug, Lisa J., Marshall, Christian R., Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David G., Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel S., Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas W., Vorstman, Jacob A.S., Fakhro, Khalid A., Fernandez, Bridget A., Lewis, M.E. Suzanne, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan K.C., Anagnostou, Evdokia, Sondheimer, Neal, Glazer, David, Hartley, Dean M.
Published in Cell (10.11.2022)
Published in Cell (10.11.2022)
Get full text
Journal Article
2384-PUB: Implementation of Interdisciplinary Panel Management (PM) Teams in Urban Primary Care Settings to Improve Care for High-Risk Patients with T2DM
WITTMAN, DEBORAH, ABIA CASELY-HAYFORD, SOPHIA NAA, YOUNG, EDWIN, ALBU, JEANINE
Published in Diabetes (New York, N.Y.) (01.06.2019)
Published in Diabetes (New York, N.Y.) (01.06.2019)
Get full text
Journal Article
An Interrupted Time Series Analysis to Determine the Effect of an Electronic Health Record-Based Intervention on Appropriate Screening for Type 2 Diabetes in Urban Primary Care Clinics in New York City
Albu, Jeanine B, Sohler, Nancy, Li, Rui, Li, Xuan, Young, Edwin, Gregg, Edward W, Ross-Degnan, Dennis
Published in Diabetes care (01.08.2017)
Published in Diabetes care (01.08.2017)
Get full text
Journal Article