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

414 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: rajagopalan r. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Izumi K, et al. Among authors: rajagopalan r. Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2. Nat Genet. 2015. PMID: 25730767 Free PMC article.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. Li MH, et al. Among authors: rajagopalan r. Hum Genomics. 2015 Jul 19;9(1):15. doi: 10.1186/s40246-015-0038-y. Hum Genomics. 2015. PMID: 26187847 Free PMC article.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: rajagopalan r. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 Free PMC article.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN). Berauer JP, et al. Among authors: rajagopalan r. Hepatology. 2019 Sep;70(3):899-910. doi: 10.1002/hep.30515. Epub 2019 Mar 21. Hepatology. 2019. PMID: 30664273 Free PMC article.
414 results