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Items: 1 to 20 of 47

1.

Protein-elongating mutations in MYH11 are implicated in a dominantly-inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB.

Hum Mutat. 2020 Jan 16. doi: 10.1002/humu.23986. [Epub ahead of print]

PMID:
31944481
2.

Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018.

Uprety P, Curtis D, Elkan M, Fink J, Rajagopalan R, Zhao C, Bittinger K, Mitchell S, Ulloa ER, Hopkins S, Graf EH.

Emerg Infect Dis. 2019 Sep;25(9):1676-1682. doi: 10.3201/eid2509.190468. Epub 2019 Sep 17.

3.

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.

Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.

4.

Genome maps across 26 human populations reveal population-specific patterns of structural variation.

Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY.

Nat Commun. 2019 Mar 4;10(1):1025. doi: 10.1038/s41467-019-08992-7.

5.

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).

Hepatology. 2019 Sep;70(3):899-910. doi: 10.1002/hep.30515. Epub 2019 Mar 21.

PMID:
30664273
6.

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

Amritkumar P, Jeffrey JM, Chandru J, Vanniya S P, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, Srikumari Srisailapathy CR.

BMC Med Genet. 2018 Jun 19;19(1):105. doi: 10.1186/s12881-018-0609-6.

7.

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.

Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15.

8.

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID.

Sci Rep. 2018 Jan 18;8(1):1056. doi: 10.1038/s41598-018-19173-9.

9.

Flexible robust binder-free carbon nanotube membranes for solid state and microcapacitor application.

Adu K, Ma D, Wang Y, Spencer M, Rajagopalan R, Wang CY, Randall C.

Nanotechnology. 2018 Jan 19;29(3):035605. doi: 10.1088/1361-6528/aa9d31.

PMID:
29176049
10.

Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.

Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S.

Ann Hum Genet. 2018 Mar;82(2):119-126. doi: 10.1111/ahg.12228. Epub 2017 Nov 17.

PMID:
29148562
11.

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP.

Am J Hematol. 2018 Jan;93(1):8-16. doi: 10.1002/ajh.24917. Epub 2017 Oct 20.

12.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC.

JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.

13.

High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.

Young E, Pastor S, Rajagopalan R, McCaffrey J, Sibert J, Mak ACY, Kwok PY, Riethman H, Xiao M.

Nucleic Acids Res. 2017 May 19;45(9):e73. doi: 10.1093/nar/gkx017.

14.

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB.

Am J Med Genet A. 2016 Mar;170(3):750-3. doi: 10.1002/ajmg.a.37512. Epub 2015 Dec 24.

PMID:
26697755
15.

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.

Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y.

16.

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB.

Hum Mutat. 2015 Jun;36(6):631-7. doi: 10.1002/humu.22786. Epub 2015 Apr 21.

17.

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M, Spinner NB.

Am J Med Genet A. 2015 Apr;167A(4):891-3. doi: 10.1002/ajmg.a.36946. Epub 2015 Mar 3. No abstract available.

PMID:
25737299
18.

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.

Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2.

19.

Solar powered wrist worn acquisition system for continuous photoplethysmogram monitoring.

Dieffenderfer JP, Beppler E, Novak T, Whitmire E, Jayakumar R, Randall C, Qu W, Rajagopalan R, Bozkurt A.

Conf Proc IEEE Eng Med Biol Soc. 2014;2014:3142-5. doi: 10.1109/EMBC.2014.6944289.

PMID:
25570657
20.

Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.

Pavithra A, Selvakumari M, Nityaa V, Sharanya N, Ramakrishnan R, Narasimhan M, Srisailapathy CR.

Ann Hum Genet. 2015 Jan;79(1):76-82. doi: 10.1111/ahg.12086. Epub 2014 Nov 13.

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