Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: hullings m. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: hullings m. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. Deardorff MA, et al. Among authors: hullings m. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316. Nature. 2012. PMID: 22885700 Free PMC article.
Oncogenic Genomic Alterations, Clinical Phenotypes, and Outcomes in Metastatic Castration-Sensitive Prostate Cancer.
Stopsack KH, Nandakumar S, Wibmer AG, Haywood S, Weg ES, Barnett ES, Kim CJ, Carbone EA, Vasselman SE, Nguyen B, Hullings MA, Scher HI, Morris MJ, Solit DB, Schultz N, Kantoff PW, Abida W. Stopsack KH, et al. Among authors: hullings ma. Clin Cancer Res. 2020 Jul 1;26(13):3230-3238. doi: 10.1158/1078-0432.CCR-20-0168. Epub 2020 Mar 27. Clin Cancer Res. 2020. PMID: 32220891 Free PMC article.
Morphology-Predicted Large-Scale Transition Number in Circulating Tumor Cells Identifies a Chromosomal Instability Biomarker Associated with Poor Outcome in Castration-Resistant Prostate Cancer.
Schonhoft JD, Zhao JL, Jendrisak A, Carbone EA, Barnett ES, Hullings MA, Gill A, Sutton R, Lee J, Dago AE, Landers M, Bakhoum SF, Wang Y, Gonen M, Dittamore R, Scher HI. Schonhoft JD, et al. Among authors: hullings ma. Cancer Res. 2020 Nov 15;80(22):4892-4903. doi: 10.1158/0008-5472.CAN-20-1216. Epub 2020 Aug 19. Cancer Res. 2020. PMID: 32816908 Free PMC article.
Minimum Technical Data Elements for Liquid Biopsy Data Submitted to Public Databases.
Febbo PG, Martin AM, Scher HI, Barrett JC, Beaver JA, Beresford PJ, Blumenthal GM, Bramlett K, Compton C, Dittamore R, Eberhard DA, Edelstein D, Godsey J, Gruen A, Hanlon SE, Hicks J, Hovelson D, Hullings M, Johann D, Johnson J, Kolatkar A, Kuhn P, Levine R, Martini JF, Miller DP, Moore C, Moy B, Pathak A, Philip R, Reese D, Royalty W, Ryder M, Sakul H, Salvatore LM, Schade A, Silvestro A, Simmons JK, Simons J, Singh Bhan S, Smalley MD, Somiari SB, Talasaz A, Tewari M, Tseng HR, Vinson J, Wells W, Welsh A, Grossman RL, Lee JSH, Leiman LC. Febbo PG, et al. Among authors: hullings m. Clin Pharmacol Ther. 2020 Apr;107(4):730-734. doi: 10.1002/cpt.1747. Epub 2020 Feb 4. Clin Pharmacol Ther. 2020. PMID: 32017048 Free PMC article. No abstract available.
Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade.
Abida W, Cheng ML, Armenia J, Middha S, Autio KA, Vargas HA, Rathkopf D, Morris MJ, Danila DC, Slovin SF, Carbone E, Barnett ES, Hullings M, Hechtman JF, Zehir A, Shia J, Jonsson P, Stadler ZK, Srinivasan P, Laudone VP, Reuter V, Wolchok JD, Socci ND, Taylor BS, Berger MF, Kantoff PW, Sawyers CL, Schultz N, Solit DB, Gopalan A, Scher HI. Abida W, et al. Among authors: hullings m. JAMA Oncol. 2019 Apr 1;5(4):471-478. doi: 10.1001/jamaoncol.2018.5801. JAMA Oncol. 2019. PMID: 30589920 Free PMC article.
12 results