De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

Por Keselman, Dennis, Singh, Ram, Cohen, Ninette, Fefer, Zipora
Publicado no Child Neurol Open (2019)

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Por Khan, Wahab A., Cohen, Ninette, Scott, Stuart A., Pereira, Elaine M.
Publicado no BMC Med Genomics (2019)

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome

Por Scott, Stuart A., Cohen, Ninette, Brandt, Tracy, Warburton, Peter E., Edelmann, Lisa
Publicado em 2010

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

Por Reiner, Jennifer, Karger, Lisa, Cohen, Ninette, Mehta, Lakshmi, Edelmann, Lisa, Scott, Stuart A.
Publicado no J Mol Diagn (2017)

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

Por Brandt, Tracy, Blanchard, Leah, Desai, Khyati, Nimkarn, Saroj, Cohen, Ninette, Edelmann, Lisa, Mehta, Lakshmi
Publicado em 2013

Maternal Uniparental Disomy of Chromosome 15 and Concomitant STRC and CATSPER2 Deletion-Mediated Deafness-Infertility Syndrome

Por Karger, Lisa, Khan, Wahab A., Calabio, Rafaela, Singh, Ram, Xiang, Bixia, Babu, Arvind, Cohen, Ninette, Yang, Amy, Scott, Stuart A.
Publicado no Am J Med Genet A (2017)

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

Por Josowitz, Rebecca, Mulero-Navarro, Sonia, Rodriguez, Nelson A., Falce, Christine, Cohen, Ninette, Ullian, Erik M., Weiss, Lauren A., Rauen, Katherine A., Sobie, Eric A., Gelb, Bruce D.
Publicado no Stem Cell Reports (2016)

Identification and Purification of Human Induced Pluripotent Stem Cell-Derived Atrial-Like Cardiomyocytes Based on Sarcolipin Expression

Por Josowitz, Rebecca, Lu, Jia, Falce, Christine, D’Souza, Sunita L., Wu, Meng, Cohen, Ninette, Dubois, Nicole C., Zhao, Yong, Sobie, Eric A., Fishman, Glenn I., Gelb, Bruce D.
Publicado em 2014

Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Por Webb, Bryn D., Wheeler, Patricia G., Hagen, Jacob J., Cohen, Ninette, Linderman, Michael D., Diaz, George A., Naidich, Thomas P., Rodenburg, Richard J., Houten, Sander M., Schadt, Eric E.
Publicado no Hum Mutat (2015)

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Por Reiner, Jennifer, Pisani, Laura, Qiao, Wanqiong, Singh, Ram, Yang, Yao, Shi, Lisong, Khan, Wahab A., Sebra, Robert, Cohen, Ninette, Babu, Arvind, Edelmann, Lisa, Jabs, Ethylin Wang, Scott, Stuart A.
Publicado no NPJ Genom Med (2018)

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a nov...

Por Cai, Guiqing, Edelmann, Lisa, Goldsmith, Juliet E, Cohen, Ninette, Nakamine, Alisa, Reichert, Jennifer G, Hoffman, Ellen J, Zurawiecki, Danielle M, Silverman, Jeremy M, Hollander, Eric, Soorya, Latha, Anagnostou, Evdokia, Betancur, Catalina, Buxbaum, Joseph D
Publicado em 2008

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Por Edelmann, Lisa, Prosnitz, Aaron, Pardo, Sherly, Bhatt, Jahnavi, Cohen, Ninette, Lauriat, Tara, Ouchanov, Leonid, González, Patricia J, Manghi, Elina R, Bondy, Pamela, Esquivel, Marcela, Monge, Silvia, Delgado, Marietha F, Splendore, Alessandra, Francke, Uta, Burton, Barbara K, McInnes, L Alison
Publicado em 2007

Functional and Transcriptomic Insights into Pathogenesis of R9C Phospholamban Mutation using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Por Ceholski, Delaine K., Turnbull, Irene C., Kong, Chi-Wing, Koplev, Simon, Mayourian, Joshua, Gorski, Przemek A., Stillitano, Francesca, Skodras, Angelos A., Nonnenmacher, Mathieu, Cohen, Ninette, Björkegren, Johan LM, Stroik, Daniel R., Cornea, Razvan L., Thomas, David D., Li, Ronald A., Costa, Kevin D., Hajjar, Roger J.
Publicado no J Mol Cell Cardiol (2018)

Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome

Por Carvajal-Vergara, Xonia, Sevilla, Ana, D’Souza, Sunita L., Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D., Adler, Eric D., Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J., Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D., Tartaglia, Marco, Gelb, Bruce, Lemischka, Ihor R.
Publicado em 2010

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

Por Karakikes, Ioannis, Stillitano, Francesca, Nonnenmacher, Mathieu, Tzimas, Christos, Sanoudou, Despina, Termglinchan, Vittavat, Kong, Chi-Wing, Rushing, Stephanie, Hansen, Jens, Ceholski, Delaine, Kolokathis, Fotis, Kremastinos, Dimitrios, Katoulis, Alexandros, Ren, Lihuan, Cohen, Ninette, Gho, Johannes M.I.H., Tsiapras, Dimitrios, Vink, Aryan, Wu, Joseph C., Asselbergs, Folkert W., Li, Ronald A., Hulot, Jean-Sebastien, Kranias, Evangelia G., Hajjar, Roger J.
Publicado no Nat Commun (2015)

Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11-associated juvenile myelomonocytic leukemia

Por Mulero-Navarro, Sonia, Sevilla, Ana, Roman, Angel C., Lee, Dung-Fang, D’Souza, Sunita L., Pardo, Sherly, Riess, Ilan, Su, Jie, Cohen, Ninette, Schaniel, Christoph, Rodriguez, Nelson A., Baccarini, Alessia, Brown, Brian D., Cavé, Hélène, Caye, Aurélie, Strullu, Marion, Yalcin, Safak, Park, Christopher Y., Dhandapany, Perundurai S., Yongchao, Ge, Edelmann, Lisa, Bahieg, Sawsan, Raynal, Patrick, Flex, Elisabetta, Tartaglia, Marco, Moore, Kateri A., Lemischka, Ihor R., Gelb, Bruce D.
Publicado no Cell Rep (2015)