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Items: 14

1.

Direct to Consumer Fitness DNA Testing.

Spencer EG, Topol EJ.

Clin Chem. 2018 Oct 1. pii: clinchem.2018.287326. doi: 10.1373/clinchem.2018.287326. [Epub ahead of print] No abstract available.

PMID:
30274978
2.

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.

Molparia B, Schrader BN, Cohen E, Wagner JL, Gupta SR, Gould S, Hwynn N, Spencer EG, Torkamani A.

PeerJ. 2018 Jul 20;6:e5308. doi: 10.7717/peerj.5308. eCollection 2018.

3.

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.

Molparia B, Oliveira G, Wagner JL, Spencer EG, Torkamani A.

PLoS One. 2018 May 23;13(5):e0196826. doi: 10.1371/journal.pone.0196826. eCollection 2018.

4.

Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study.

Muse ED, Wineinger NE, Spencer EG, Peters M, Henderson R, Zhang Y, Barrett PM, Rivera SP, Wohlgemuth JG, Devlin JJ, Shiffman D, Topol EJ.

PLoS Med. 2018 Mar 13;15(3):e1002525. doi: 10.1371/journal.pmed.1002525. eCollection 2018 Mar.

5.

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A.

Genet Med. 2017 Oct;19(10):1179-1183. doi: 10.1038/gim.2017.20. Epub 2017 Apr 6.

6.

Molecular Autopsy for Sudden Unexpected Death.

Torkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, Topol EJ.

JAMA. 2016 Oct 11;316(14):1492-1494. doi: 10.1001/jama.2016.11445. No abstract available.

7.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG.

Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18.

8.

Novel STAMBP mutation and additional findings in an Arabic family.

Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG.

Am J Med Genet A. 2015 Apr;167A(4):805-9. doi: 10.1002/ajmg.a.36782. Epub 2015 Feb 18.

PMID:
25692795
9.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M.

Neuron. 2015 Jan 7;85(1):228. doi: 10.1016/j.neuron.2014.12.046. Epub 2015 Jan 7. No abstract available.

10.

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M.

Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Erratum in: Neuron. 2015 Jan 7;85(1):228. Neuron. 2015 Jan 7;85(1):228.

11.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

12.

Anomalous Ce-valence-state disparity between crystalline and amorphous transition-metal compounds.

Lu F, Croft M, Spencer EG.

Phys Rev B Condens Matter. 1986 Apr 15;33(8):5950-5952. No abstract available.

PMID:
9939136
13.

Analysis of human rotavirus mixed electropherotypes.

Spencer EG, Avendaño LF, García BI.

Infect Immun. 1983 Feb;39(2):569-74.

14.

Optical activity and electrooptic effect in bismuth germanium oxide (Bi(12)GeO(20)).

Lenzo PV, Spencer EG, Ballman AA.

Appl Opt. 1966 Oct 1;5(10):1688-9. doi: 10.1364/AO.5.001688. No abstract available.

PMID:
20057607

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