Works by Cohen, Ninette

Results: 14

Myeloid/lymphoid neoplasm with a novel cryptic RBPMS::FGFR1 rearrangement presenting as de novo acute leukemias.

Published in:

Leukemia & Lymphoma, 2023, v. 64, n. 14, p. 2338, doi. 10.1080/10428194.2023.2262640

By:

Tianyu Yang;
Mahmood, Nayyara;
Goldberg, Bradley;
Cevallos, Johnny;
Peihong Hsu;
Kolitz, Jonathan;
Cohen, Ninette;
Xinmin Zhang

Publication type:

Article

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

Published in:

Nature, 2010, v. 465, n. 7299, p. 808, doi. 10.1038/nature09005

By:

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

Publication type:

Article

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

Published in:

Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19844920

By:

Keselman, Dennis;
Singh, Ram;
Cohen, Ninette;
Fefer, Zipora

Publication type:

Article

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

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 587, doi. 10.1002/humu.22781

By:

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.

Publication type:

Article

Detection of unidentified chromosome abnormalities in human neuroblastoma by spectral karyotyping (SKY).

Published in:

Genes, Chromosomes & Cancer, 2001, v. 31, n. 3, p. 201, doi. 10.1002/gcc.1136

By:

Cohen, Ninette;
Betts, David R.;
Trakhtenbrot, Luba;
Niggli, Felix K.;
Amariglio, Ninette;
Brok-Simoni, Frida;
Rechavi, Gideon;
Meitar, Dafna

Publication type:

Article

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

Published in:

Nature Communications, 2015, v. 6, n. 4, p. 6955, doi. 10.1038/ncomms7955

By:

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.

Publication type:

Article

Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.

Published in:

2023

By:

Lanceta, Joel;
Tripodi, Joseph;
Karp, Lynne;
Shaham, Meira;
Mahmood, Nayyara;
Najfeld, Vesna;
Edelman, Morris;
Cohen, Ninette

Publication type:

Case Study

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

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3383, doi. 10.1093/hmg/ddq250

By:

Scott, Stuart A.;
Cohen, Ninette;
Brandt, Tracy;
Warburton, Peter E.;
Edelmann, Lisa

Publication type:

Article

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

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101316

By:

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.

Publication type:

Article

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

Published in:

BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0497-4

By:

Khan, Wahab A.;
Cohen, Ninette;
Scott, Stuart A.;
Pereira, Elaine M.

Publication type:

Article

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

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0042-3

By:

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.

Publication type:

Article

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1436, doi. 10.1002/ajmg.a.38154

By:

Karger, Lisa;
Khan, Wahab A.;
Calabio, Rafaela;
Singh, Ram;
Xiang, Bixia;
Babu, Arvind;
Cohen, Ninette;
Yang, Amy C.;
Scott, Stuart A.

Publication type:

Article

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1170, doi. 10.1002/ajmg.a.35267

By:

Brandt, Tracy;
Desai, Khyati;
Grodberg, David;
Mehta, Lakshmi;
Cohen, Ninette;
Tryfon, Ana;
Kolevzon, Alexander;
Soorya, Latha;
Buxbaum, Joseph D.;
Edelmann, Lisa

Publication type:

Article

Characterization of karyotypic events and evolution in neuroblastoma.

Published in:

Pediatric Blood & Cancer, 2005, v. 44, n. 2, p. 147, doi. 10.1002/pbc.20179

By:

Betts, David R.;
Cohen, Ninette;
Leibundgut, Kurt E.;
Kühne, Thomas;
Caflisch, Ueli;
Greiner, Jeanette;
Traktenbrot, Luba;
Niggli, Felix K.

Publication type:

Article