Research Output

Filter
Comment/debate
2019

Author Correction: The role of sex in the genomics of human complex traits (Nature Reviews Genetics, (2019), 20, 3, (173-190), 10.1038/s41576-018-0083-1)

Khramtsova, E. A., Davis, L. K. & Stranger, B. E., Jan 1 2019, (Accepted/In press) In : Nature Reviews Genetics.

Research output: Contribution to journalComment/debate

Erratum: Metformin Targets Mitochondrial Electron Transport to Reduce Air-Pollution-Induced Thrombosis (Cell Metabolism (2019) 29(2) (335–347.e5), (S1550413118305862) (10.1016/j.cmet.2018.09.019))

Soberanes, S., Misharin, A. V., Jairaman, A., Morales-Nebreda, L., McQuattie-Pimentel, A. C., Cho, T., Hamanaka, R. B., Meliton, A. Y., Reyfman, P. A., Walter, J. M., Chen, C. I., Chi, M., Chiu, S., Gonzalez-Gonzalez, F. J., Antalek, M., Abdala-Valencia, H., Chiarella, S. E., Sun, K. A., Woods, P. S., Ghio, A. J. & 12 others, Jain, M., Perlman, H., Ridge, K. M., Morimoto, R. I., Sznajder, J. I., Balch, W. E., Bhorade, S. M., Bharat, A., Prakriya, M., Chandel, N. S., Mutlu, G. M. & Budinger, G. R. S., Feb 5 2019, In : Cell Metabolism. 29, 2, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations
2018

Erratum to: Comprehensive comparative analysis of 5′-end RNA-sequencing methods (Nature Methods, (2018), 15, 7, (505-511), 10.1038/s41592-018-0014-2)

Adiconis, X., Haber, A. L., Simmons, S. K., Moonshine, A. L., Ji, Z., Busby, M. A., Shi, X., Jacques, J., Lancaster, M. A., Pan, J. Q., Regev, A. & Levin, J. Z., Dec 1 2018, In : Nature Methods. 15, 12, 1 p.

Research output: Contribution to journalComment/debate

Expanding the zebrafish toolkit for epilepsy research

Kearney, J. A., Jan 1 2018, In : Epilepsy Currents. 18, 1, p. 56-58 3 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2017

A look behind the curtain: Epilepsy microarray consortium

Kearney, J. A., Jan 1 2017, In : Epilepsy Currents. 17, 6, p. 374-376 3 p.

Research output: Contribution to journalComment/debate

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Manolio, T. A., Fowler, D. M., Starita, L. M., Haendel, M. A., MacArthur, D. G., Biesecker, L. G., Worthey, E., Chisholm, R. L., Green, E. D., Jacob, H. J., McLeod, H. L., Roden, D., Rodriguez, L. L., Williams, M. S., Cooper, G. M., Cox, N. J., Herman, G. E., Kingsmore, S., Lo, C., Lutz, C. & 11 others, MacRae, C. A., Nussbaum, R. L., Ordovas, J. M., Ramos, E. M., Robinson, P. N., Rubinstein, W. S., Seidman, C., Stranger, B. E., Wang, H., Westerfield, M. & Bult, C., Mar 23 2017, In : Cell. 169, 1, p. 6-12 7 p.

Research output: Contribution to journalComment/debate

50 Scopus citations

Keeping the customers stratified: moving toward genetics-based treatment options in childhood NS

Roy-Puckelwartz, M. J. & Schnaper, H. W., Apr 1 2017, In : Kidney International. 91, 4, p. 781-783 3 p.

Research output: Contribution to journalComment/debate

4 Scopus citations
2016

BMP and WNT: The road to cardiomyocytes is paved with precise modulation

Quattrocelli, M. & McNally, E. M., Jun 1 2016, In : Stem Cell Investigation. 2016, JUN, 21.

Research output: Contribution to journalComment/debate

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P. & 258 others, Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Amendola, L., Appelbaum, P. S., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Brown, B. L., Burt, A. A., Byers, P. H., Caga-anan, C. F., Calikoglu, M. G., Carlson, S. J., Chahin, N., Chinnaiyan, A. M., Christensen, K. D., Chung, W., Cirino, A. L., Clayton, E., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Evans, J. P., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Fullerton, S. M., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Goddard, K., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Gray, S. W., Green, R., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Henderson, G. E., Hensman, N., Hiatt, S. M., Himes, P., Hindorff, L. A., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Holm, I. A., Hong, C., Horike-Pyne, M. J., Hull, S., Hutter, C. M., Jamal, S., Jarvik, G. P., Jensen, B. C., Joffe, S., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Koenig, B. A., Kong, S. W., Krantz, I., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lewis, M., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., MacRae, C., Manolio, T. A., Marchuk, D. S., Martinez, J. N., Masino, A., McCullough, L., McEwen, J., McGuire, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Muzny, D., Myers, R. M., Ng, D., Nickerson, D. A., Oliver, N. M., Ou, J., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Petersen, G., Plon, S., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Rehm, H. L., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C. M., Roberts, S., Robertson, P. D., Robinson, D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Salama, J., Scarano, M. I., Schneider, J., Scollon, S., Seidman, C. E., Seifert, B. A., Sharp, R. R., Shirts, B. H., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Spinner, N. B., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Tabor, H. K., Tarczy-Hornoch, P., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Ubel, P., Van Allen, E. M., Vassy, J. L., Vats, P., Veenstra, D. L., Vetter, V. L., Vries, R. D., Wagle, N., Walser, S. A., Walsh, R. C., Weck, K., Werner-Lin, A., Whittle, J., Wilfond, B., Wilhelmsen, K. C., Wolf, S. M., Wynn, J., Yang, Y., Young, C., Yu, J. H. & Zikmund-Fisher, B. J., Jul 7 2016, In : American journal of human genetics. 99, 1, 1 p.

Research output: Contribution to journalComment/debate

16 Scopus citations

When inhibiting repetitive firing is pro-epileptic

Kearney, J. A., Mar 1 2016, In : Epilepsy Currents. 16, 2, p. 114-115 2 p.

Research output: Contribution to journalComment/debate

Synaptopathies heat up: Mutations in STX1B in fever-associated epilepsies

Kearney, J. A., Jan 1 2015, In : Epilepsy Currents. 15, 3, p. 138-139 2 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

TALE of an SCN8A-associated epileptic encephalopathy mouse model

Kearney, J. A., Jan 1 2015, In : Epilepsy Currents. 15, 2, p. 83-84 2 p.

Research output: Contribution to journalComment/debate

2014

Corrigendum: Direct recording and molecular identification of the calcium channel of primary cilia

DeCaen, P. G., Delling, M., Vien, T. N. & Clapham, D. E., Sep 11 2014, In : Nature. 513, 7517, 1 p.

Research output: Contribution to journalComment/debate

Double trouble: Impairment of two interneuron types in a dravet mouse model

Kearney, J. A., Jan 1 2014, In : Epilepsy Currents. 15, 1, p. 47-49 3 p.

Research output: Contribution to journalComment/debate

Lessons learned from genetic testing for channelopathies

George, A. L., Nov 1 2014, In : The Lancet Neurology. 13, 11, p. 1068-1070 3 p.

Research output: Contribution to journalComment/debate

3 Scopus citations

The more, the better: Modeling dravet syndrome with induced pluripotent stem cell-derived neurons

Kearney, J., 2014, In : Epilepsy Currents. 14, 1, p. 33-34 2 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Warfarin pharmacogenetics: an illustration of the importance of studies in minority populations.

Perera, M. A., Cavallari, L. H. & Johnson, J. A., Mar 2014, In : Unknown Journal. 95, 3, p. 242-244 3 p.

Research output: Contribution to journalComment/debate

22 Scopus citations
2013

A mutation hot-spot for benign infantile epilepsy

Kearney, J., Jan 1 2013, In : Epilepsy Currents. 13, 1, p. 20-21 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Less is more: Reducing tau ameliorates seizures in epilepsy models

Kearney, J. A., Nov 1 2013, In : Epilepsy Currents. 13, 4, p. 184-185 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Optimizing the use of CROs by academia and small companies

Lane, R. F., Friedman, L. G., Keith, C., Braithwaite, S. P., Frearson, J. A., Lowe, D. A., Longo, F. M., Refolo, L. M., Watterson, D. M., Tsaioun, K., Shineman, D. W. & Fillit, H. M., Jul 1 2013, In : Nature Reviews Drug Discovery. 12, 7, p. 487-488 2 p.

Research output: Contribution to journalComment/debate

5 Scopus citations

Sudden unexpected death in Dravet syndrome

Kearney, J., Nov 1 2013, In : Epilepsy Currents. 13, 6, p. 264-265 2 p.

Research output: Contribution to journalComment/debate

4 Scopus citations

The cannabis conundrum

Miller, R. J., Oct 22 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 43, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Voltage-gated ion channel accessory subunits: Sodium, potassium, or both?

Kearney, J., Jan 1 2013, In : Epilepsy Currents. 13, 1, p. 30-31 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2012

Leaky channels make weak muscles

George, A. L., Dec 3 2012, In : Journal of Clinical Investigation. 122, 12, p. 4333-4336 4 p.

Research output: Contribution to journalComment/debate

6 Scopus citations
2004

Erratum: Multilocus analysis of variation and speciation in the closely related species Arabidopsis halleri and A. lyrata (Genetics 166 (373-388))

Ramos-Onsins, S. E., Stranger, B. E., Mitchell-Olds, T. & Aguadé, M., Aug 1 2004, In : Genetics. 167, 4, 1 p.

Research output: Contribution to journalComment/debate

Erratum: Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block (The Journal of Physiology (2004) vol. 554 (321-334))

Desaphy, J. F., De Luca, A., Didonna, M. P., George, A. L. & Camerino, D. C., Mar 16 2004, In : Journal of Physiology. 555, 3, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2003

Chemokine receptors in the brain: A developing story

Tran, P. B. & Miller, R. J., Feb 24 2003, In : Journal of Comparative Neurology. 457, 1, p. 1-6 6 p.

Research output: Contribution to journalComment/debate

39 Scopus citations
2002

Erratum: (Journal of General Physiology (May 2002) 119:5 (487-508))

Prakiya, M. & Lewis, R. S., Jun 20 2002, In : Journal of General Physiology. 119, 6, 1 p.

Research output: Contribution to journalComment/debate

Erratum: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum (Nature Genetics (2002) 32(384-392))

Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupré, N., Lu, J., Fan, X., Song, L., Rivière, J. B., Prévost, C., Horst, J., Simonati, A., Lemcke, B., Welch, R., England, R., Zhan, F. Q., Mercado, A., Siesser, W. B., George, A. L., McDonald, M. P. & 4 others, Bouchard, J. P., Mathieu, J., Delpire, E. & Rouleau, G. A., Dec 1 2002, In : Nature Genetics. 32, 4, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

The ups and downs of Down's syndrome

Miller, R. J., Jan 26 2002, In : Lancet. 359, 9303, p. 275-276 2 p.

Research output: Contribution to journalComment/debate

5 Scopus citations

Structural and thermodynamic studies of cloned fragments of spectrin

Li, D., MacDonald, R. I., Mondragón, A., Pozharski, E. V., Ruffatti, J. A. & Tokars, V. L., Jan 1 2001, In : Cellular and Molecular Biology Letters. 6, 2, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2000

More mysteries of opium reveal'd: 300 years of opiates

Miller, R. J. & Tran, P. B., Aug 1 2000, In : Trends in Pharmacological Sciences. 21, 8, p. 299-304 6 p.

Research output: Contribution to journalComment/debate

8 Scopus citations

Transforming growth factor-β: Death takes a holiday

Miller, R. J. & Ragsdale, C. W., Nov 22 2000, In : Nature Neuroscience. 3, 11, p. 1061-1062 2 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

What happens when mutant neuroserpins get into bad shape

Miller, R. J. & Roos, R. P., Feb 19 2000, In : Lancet. 355, 9204, p. 590-591 2 p.

Research output: Contribution to journalComment/debate

3 Scopus citations
1998

Chloride channels and endocytosis: CIC-5 makes a Dent

George A.L., J., Jul 7 1998, In : Proceedings of the National Academy of Sciences of the United States of America. 95, 14, p. 7843-7845 3 p.

Research output: Contribution to journalComment/debate

20 Scopus citations
1996

JAK/STAT eats the fat

Miller, R. J. & Bell, G. I., May 1996, In : Trends in Neurosciences. 19, 5, p. 159-161 3 p.

Research output: Contribution to journalComment/debate

13 Scopus citations
1992

Erratum: Structure of the smooth muscle myosin light-chain kinase calmodulin-binding domain peptide bound to calmodulin (Biochemistry (October 22, 1991) 30 (10078-10084))

Roth, S. M., Schneider, D. M., Strobel, L. A., VanBerkum, M. F. A., Means, A. R., Wand, A. J., Lukas, T. J., Burgess, W. H., Prendergast, F. G., Lau, W. & Watterson, D. M., Jan 1 1992, In : Biochemistry. 31, 1, 1 p.

Research output: Contribution to journalComment/debate

1991

RFLP for BgIII at the human skeletal muscle sodium channel locus

Ebers, G. C., Hudson, A. J., George, A. L., Barchi, R. L. & Kallen, R. G., Mar 11 1991, In : Nucleic acids research. 19, 5, 1 p.

Research output: Contribution to journalComment/debate

5 Scopus citations