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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 387, doi. 10.1007/s00439-021-02365-1
By:
- Abbasi, Wafaa;
- French, Courtney E.;
- Rockowitz, Shira;
- Kenna, Margaret A.;
- Eliot Shearer, A.
Publication type:
Article
Regulation of the glucocorticoid receptor via a BET-dependent enhancer drives antiandrogen resistance in prostate cancer.
Published in:
eLife, 2017, p. 1, doi. 10.7554/eLife.27861
By:
- Shah, Neel;
- Ping Wang;
- Wongvipat, John;
- Karthaus, Wouter R.;
- Abida, Wassim;
- Armenia, Joshua;
- Rockowitz, Shira;
- Drier, Yotam;
- Bernstein, Bradley E.;
- Long, Henry W.;
- Freedman, Matthew L.;
- Arora, Vivek K.;
- Deyou Zheng;
- Sawyers, Charles L.
Publication type:
Article
Identification of in vivoDNA-binding mechanisms of Pax6 and reconstruction of Pax6-dependent gene regulatory networks during forebrain and lens development.
Published in:
Nucleic Acids Research, 2015, v. 43, n. 14, p. 6827, doi. 10.1093/nar/gkv589
By:
- Jian Sun;
- Rockowitz, Shira;
- Qing Xie;
- Ashery-Padan, Ruth;
- Deyou Zheng;
- Cvekl, Ales
Publication type:
Article
Significant expansion of the REST/NRSF cistrome in human versus mouse embryonic stem cells: potential implications for neural development.
Published in:
Nucleic Acids Research, 2015, v. 43, n. 12, p. 5730, doi. 10.1093/nar/gkv514
By:
- Rockowitz, Shira;
- Deyou Zheng
Publication type:
Article
ETS factors reprogram the androgen receptor cistrome and prime prostate tumorigenesis in response to PTEN loss.
Published in:
Nature Medicine, 2013, v. 19, n. 8, p. 1023, doi. 10.1038/nm.3216
By:
- Chen, Yu;
- Chi, Ping;
- Rockowitz, Shira;
- Iaquinta, Phillip J;
- Shamu, Tambudzai;
- Shukla, Shipra;
- Gao, Dong;
- Sirota, Inna;
- Carver, Brett S;
- Wongvipat, John;
- Scher, Howard I;
- Zheng, Deyou;
- Sawyers, Charles L
Publication type:
Article
Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Published in:
American Journal of Hematology, 2022, v. 97, n. 1, p. 18, doi. 10.1002/ajh.26382
By:
- Renella, Raffaele;
- Gagne, Katelyn;
- Beauchamp, Ellen;
- Fogel, Jonathan;
- Perlov, Aleksej;
- Sola, Mireia;
- Schlaeger, Thorsten;
- Hofmann, Inga;
- Shimamura, Akiko;
- Ebert, Benjamin L.;
- Schmitz‐Abe, Klaus;
- Markianos, Kyriacos;
- Murphy, Kristi;
- Sun, Liang;
- Rockowitz, Shira;
- Sliz, Piotr;
- Campagna, Dean R.;
- Springer, Timothy A.;
- Bahl, Christopher;
- Agarwal, Suneet
Publication type:
Article
Toward representative genomic research: the children's rare disease cohorts experience.
Published in:
Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231181406
By:
- Frazier, Zoë J.;
- Brown, Eurnestine;
- Rockowitz, Shira;
- Lee, Ted;
- Zhang, Bo;
- Sveden, Abigail;
- Chamberlin, Nancy L.;
- Dies, Kira A.;
- Poduri, Annapurna;
- Sliz, Piotr;
- Chopra, Maya
Publication type:
Article
Characterization of Human Pseudogene-Derived Non-Coding RNAs for Functional Potential.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093972
By:
- Guo, Xingyi;
- Lin, Mingyan;
- Rockowitz, Shira;
- Lachman, Herbert M.;
- Zheng, Deyou
Publication type:
Article
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
By:
- Rockowitz, Shira;
- LeCompte, Nicholas;
- Carmack, Mary;
- Quitadamo, Andrew;
- Wang, Lily;
- Park, Meredith;
- Knight, Devon;
- Sexton, Emma;
- Smith, Lacey;
- Sheidley, Beth;
- Field, Michael;
- Holm, Ingrid A.;
- Brownstein, Catherine A.;
- Agrawal, Pankaj B.;
- Kornetsky, Susan;
- Poduri, Annapurna;
- Snapper, Scott B.;
- Beggs, Alan H.;
- Yu, Timothy W.;
- Williams, David A.
Publication type:
Article
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Published in:
Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200013
By:
- Estrella, Elicia;
- Rockowitz, Shira;
- Thorne, Marielle;
- Smith, Pressley;
- Petit, Jeanette;
- Zehnder, Veronica;
- Yu, Richard N.;
- Bauer, Stuart;
- Berde, Charles;
- Agrawal, Pankaj B.;
- Beggs, Alan H.;
- Gharavi, Ali G.;
- Kunkel, Louis;
- Brownstein, Catherine A.
Publication type:
Article
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Published in:
JAMA Network Open, 2023, v. 6, n. 7, p. e2324380, doi. 10.1001/jamanetworkopen.2023.24380
By:
- Koh, Hyun Yong;
- Smith, Lacey;
- Wiltrout, Kimberly N.;
- Podury, Archana;
- Chourasia, Nitish;
- D'Gama, Alissa M.;
- Park, Meredith;
- Knight, Devon;
- Sexton, Emma L.;
- Koh, Julia J.;
- Oby, Brandon;
- Pinsky, Rebecca;
- Shao, Diane D.;
- French, Courtney E.;
- Shao, Wanqing;
- Rockowitz, Shira;
- Sliz, Piotr;
- Zhang, Bo;
- Mahida, Sonal;
- Moufawad El Achkar, Christelle
Publication type:
Article
Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers.
Published in:
Epigenetics & Chromatin, 2016, v. 8, p. 1, doi. 10.1186/s13072-016-0087-z
By:
- Jian Sun;
- Yilin Zhao;
- McGreal, Rebecca;
- Cohen-Tayar, Yamit;
- Rockowitz, Shira;
- Wilczek, Carola;
- Ashery-Padan, Ruth;
- Shechter, David;
- Deyou Zheng;
- Cvekl, Ales
Publication type:
Article
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 2, p. 249, doi. 10.1111/epi.16427
By:
- Rochtus, Anne;
- Olson, Heather E.;
- Smith, Lacey;
- Keith, Louisa G.;
- El Achkar, Christelle;
- Taylor, Alan;
- Mahida, Sonal;
- Park, Meredith;
- Kelly, McKenna;
- Shain, Catherine;
- Rockowitz, Shira;
- Rosen Sheidley, Beth;
- Poduri, Annapurna
Publication type:
Article
Comparison of REST Cistromes across Human Cell Types Reveals Common and Context-Specific Functions.
Published in:
PLoS Computational Biology, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pcbi.1003671
By:
- Rockowitz, Shira;
- Lien, Wen-Hui;
- Pedrosa, Erika;
- Wei, Gang;
- Lin, Mingyan;
- Zhao, Keji;
- Lachman, Herbert M.;
- Fuchs, Elaine;
- Zheng, Deyou
Publication type:
Article
Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh.
Published in:
Birth Defects Research, 2024, v. 116, n. 3, p. 1, doi. 10.1002/bdr2.2331
By:
- Tindula, Gwen;
- Issac, Biju;
- Mukherjee, Sudipta Kumer;
- Ekramullah, Sheikh Muhammad;
- Arman, D. M.;
- Islam, Joynul;
- Suchanda, Hafiza Sultana;
- Sun, Liang;
- Rockowitz, Shira;
- Christiani, David C.;
- Warf, Benjamin C.;
- Mazumdar, Maitreyi
Publication type:
Article
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 193, doi. 10.1002/acn3.51506
By:
- Chopra, Maya;
- Gable, Dustin L.;
- Love‐Nichols, Jamie;
- Tsao, Alexa;
- Rockowitz, Shira;
- Sliz, Piotr;
- Barkoudah, Elizabeth;
- Bastianelli, Lucia;
- Coulter, David;
- Davidson, Emily;
- DeGusmao, Claudio;
- Fogelman, David;
- Huth, Kathleen;
- Marshall, Paige;
- Nimec, Donna;
- Sanders, Jessica Solomon;
- Shore, Benjamin J.;
- Snyder, Brian;
- Stone, Scellig S. D.;
- Ubeda, Ana
Publication type:
Article
A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia.
Published in:
Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29309
By:
- Oakley, Jamie Heather;
- Campagna, Dean R.;
- Sun, Liang;
- Rockowitz, Shira;
- Sliz, Piotr;
- Boudreaux, Jeanne;
- Woods, Gary;
- Fleming, Mark D.
Publication type:
Article
Pioneer factors govern super-enhancer dynamics in stem cell plasticity and lineage choice.
Published in:
Nature, 2015, v. 521, n. 7552, p. 366, doi. 10.1038/nature14289
By:
- Adam, Rene C.;
- Yang, Hanseul;
- Rockowitz, Shira;
- Larsen, Samantha B.;
- Nikolova, Maria;
- Oristian, Daniel S.;
- Polak, Lisa;
- Kadaja, Meelis;
- Asare, Amma;
- Zheng, Deyou;
- Fuchs, Elaine
Publication type:
Article
Long-Term Characteristics of Human-Derived Biliary Organoids under a Single Continuous Culture Condition.
Published in:
Cells (2073-4409), 2022, v. 11, n. 23, p. 3797, doi. 10.3390/cells11233797
By:
- Aktas, Ranan G.;
- Karski, Michael;
- Issac, Biju;
- Sun, Liang;
- Rockowitz, Shira;
- Sliz, Piotr;
- Vakili, Khashayar
Publication type:
Article
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
Published in:
Genes, 2023, v. 14, n. 4, p. 779, doi. 10.3390/genes14040779
By:
- Hojlo, Margaret A.;
- Ghebrelul, Merhawi;
- Genetti, Casie A.;
- Smith, Richard;
- Rockowitz, Shira;
- Deaso, Emma;
- Beggs, Alan H.;
- Agrawal, Pankaj B.;
- Glahn, David C.;
- Gonzalez-Heydrich, Joseph;
- Brownstein, Catherine A.
Publication type:
Article
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
Published in:
Journal of Crohn's & Colitis, 2022, v. 16, n. 9, p. 1380, doi. 10.1093/ecco-jcc/jjac045
By:
- Collen, Lauren V;
- Kim, David Y;
- Field, Michael;
- Okoroafor, Ibeawuchi;
- Saccocia, Gwen;
- Whitcomb, Sydney Driscoll;
- Green, Julia;
- Dong, Michelle Dao;
- Barends, Jared;
- Carey, Bridget;
- Weatherly, Madison E;
- centre, Regeneron Genetics;
- Rockowitz, Shira;
- Sliz, Piotr;
- Liu, Enju;
- Eran, Alal;
- Grushkin-Lerner, Leslie;
- Bousvaros, Athos;
- Muise, Aleixo M;
- Klein, Christoph
Publication type:
Article
Inflammation drives pathogenesis of early intestinal failure-associated liver disease.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54675-9
By:
- Fligor, Scott C.;
- Tsikis, Savas T.;
- Hirsch, Thomas I.;
- Jain, Ashish;
- Sun, Liang;
- Rockowitz, Shira;
- Gura, Kathleen M.;
- Puder, Mark
Publication type:
Article

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