Research Output 1981 2019

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Comment/debate
2019

Author Correction: Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations (Nature, (2016), 540, 7632, (270-275), 10.1038/nature20592)

Kang, E., Wu, J., Gutierrez, N. M., Koski, A., Tippner-Hedges, R., Agaronyan, K., Platero-Luengo, A., Martinez-Redondo, P., Ma, H., Lee, Y., Hayama, T., Van Dyken, C., Wang, X., Luo, S., Ahmed, R., Li, Y., Ji, D., Kayali, R., Cinnioglu, C., Olson, S. & 10 others, Jensen, J., Battaglia, D., Lee, D., Wu, D., Huang, T., Wolf, D. P., Temiakov, D., Belmonte, J. C. I., Amato, P. & Mitalipov, S., Mar 14 2019, In : Nature. 567, 7747, p. E5-E9

Research output: Contribution to journalComment/debate

Open Access
Mitochondrial DNA
Haplotypes
Oocytes
Ovum
History

Erratum to: Interplay between hypoxia and androgen controls a metabolic switch conferring resistance to androgen/AR-targeted therapy (Nature Communications, (2018), 9, 1, (4972), 10.1038/s41467-018-07411-7)

Geng, H., Xue, C., Mendonca, J., Sun, X-X., Liu, Q., Reardon, P. N., Chen, Y., Qian, K., Hua, V., Chen, A., Pan, F., Yuan, J., Dang, S., Beer, T. T., Dai, M., Kachhap, S. K. & Qian, Z. D., Dec 1 2019, In : Nature Communications. 10, 1, 164.

Research output: Contribution to journalComment/debate

hypoxia
Androgens
therapy
switches
communication
2018

Correction: Sex, pregnancy and aortic disease in marfan syndrome(PLoS ONE (2017) 12:7 (e0181166) DOI: 10.1371/journal.pone.0181166)

Renard, M., Muiño-Mosquera, L., Manalo, E. C., Tufa, S., Carlson, E. J., Keene, D. R., Backer, J. D. & Sakai, L., May 1 2018, In : PloS one. 13, 5, e0197631.

Research output: Contribution to journalComment/debate

Open Access
Aortic Diseases
Marfan Syndrome
aorta
pregnancy
Pregnancy
14 Citations (Scopus)

Erratum: Comprehensive Characterization of Cancer Driver Genes and Mutations (ARTICLE (2018) 173(2) (371–385), (S009286741830237X), (10.1016/j.cell.2018.02.060))

The MC3 Working Group & The Cancer Genome Atlas Research Network, Aug 9 2018, In : Cell. 174, 4, p. 1034-1035 2 p.

Research output: Contribution to journalComment/debate

Neoplasm Genes
Adenocarcinoma
Genes
Mutation
ethyl-2-methylthio-4-methyl-5-pyrimidine carboxylate
8 Citations (Scopus)

Erratum: The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma (Cell Reports (2018) 23(1) (313–326.e5) (S2211124718304364) (10.1016/j.celrep.2018.03.075))

The Cancer Genome Atlas Research Network & The Cancer Genome Atlas Research Network, Jun 19 2018, In : Cell Reports. 23, 12, 1 p.

Research output: Contribution to journalComment/debate

Atlases
Renal Cell Carcinoma
Names
Emotions
Genes
3 Citations (Scopus)

Lessons learned from a study of genomics-based carrier screening for reproductive decision making

Wilfond, B. S., Kauffman, T. L., Jarvik, G. P., Reiss, J. A., Richards, C. S., McMullen, C., Gilmore, M., Himes, P., Kraft, S. A., Porter, K. M., Schneider, J. L., Punj, S., Leo, M. C., Dickerson, J. F., Lynch, F. L., Clarke, E., Rope, A. F., Lutz, K. & Goddard, K. A. B., Jan 1 2018, In : Health Affairs. 37, 5, p. 809-816 8 p.

Research output: Contribution to journalComment/debate

Genomics
Decision Making
Delivery of Health Care
Workflow
Health Services Research
2017

Correction: Decoupling of the PI3K pathway via mutation necessitates combinatorial treatment in HER2+ breast cancer (PLoS ONE (2015) 10:7 (e0133219) DOI: 10.1371/journal.pone.0133219)

Korkola, J., Collisson, E. A., Heiser, L., Oates, C., Bayani, N., Itani, S., Esch, A., Thompson, W., Griffith, O. L., Wang, N. J., Kuo, W. L., Cooper, B., Billig, J., Ziyad, S., Hung, J. L., Jakkula, L., Feiler, H., Lu, Y., Mills, G., Spellman, P. & 3 others, Tomlin, C., Mukherjee, S. & Gray, J., Oct 1 2017, In : PLoS One. 12, 10, e0186551.

Research output: Contribution to journalComment/debate

phosphatidylinositol 3-kinase
Phosphatidylinositol 3-Kinases
breast neoplasms
Names
Breast Neoplasms

Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease (Journal of Genetic Counseling, (2017), 26, 4, (669-688), 10.1007/s10897-017-0081-z)

Morales, A., Allain, D. C., Arscott, P., James, E., MacCarrick, G., Murray, B., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald-Butt, S. M., Kushner, J., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Aaron Kay, W., Aug 1 2017, In : Journal of Genetic Counseling. 26, 4, p. 689 1 p.

Research output: Contribution to journalComment/debate

Genetic Counseling
Blood Vessels
Heart Diseases
Mothers
Pregnancy

Erratum to: "Genome co-amplification upregulates a mitotic gene network activity that predicts outcome and response to mitotic protein inhibitors in breast cancer", [Breast Cancer Research, 19, (2017) (17)] DOI: 10.1186/s13058-017-0809-6

Hu, Z., Mao, J. H., Curtis, C., Huang, G., Gu, S., Heiser, L., Lenburg, M. E., Korkola, J., Bayani, N., Samarajiwa, S., Seoane, J. A., Dane, M. A., Esch, A., Feiler, H., Wang, N. J., Hardwicke, M. A., Laquerre, S., Jackson, J., Wood, K. W., Weber, B. & 5 others, Spellman, P., Aparicio, S., Wooster, R., Caldas, C. & Gray, J., Feb 9 2017, In : Breast Cancer Research. 19, 1, 17.

Research output: Contribution to journalComment/debate

Gene Regulatory Networks
Names
Breast
Up-Regulation
Genome
1 Citation (Scopus)

Haplotype resolution at the single-cell level

Adey, A., Nov 21 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 47, p. 12362-12364 3 p.

Research output: Contribution to journalComment/debate

Haplotypes

p73 to the rescue: Role of RPL26

Sun, X-X. & Dai, M., 2017, In : Oncotarget. 8, 4, p. 5641-5642 2 p.

Research output: Contribution to journalComment/debate

2016
3 Citations (Scopus)

Erratum: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (American Journal of Human Genetics (2016) 99(3) (704–710)(S0002929716302294)(10.1016/j.ajhg.2016.06.025))

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Coban Akdemir, Z. H., Fish, R. J. & 13 others, Eldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., Sep 1 2016, In : American Journal of Human Genetics. 99, 3, p. 786 1 p.

Research output: Contribution to journalComment/debate

Confusion
Congenital Heart Defects
Information Storage and Retrieval
Medical Genetics
Bradycardia
14 Citations (Scopus)

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. & 259 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., Knoppers, B., 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., Richards, C. S., Richards, C. S., Rini, C., 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, p. 246 1 p.

Research output: Contribution to journalComment/debate

Evidence-Based Practice
Medical Genetics
Names
Medicine
Research
37 Citations (Scopus)

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Amendola, L. M., Jarvik, G. P., Leo, M. C., McLaughlin, H. M., Akkari, Y., Amaral, M. D., Berg, J. S., Biswas, S., Bowling, K. M., Conlin, L. K., Cooper, G. M., Dorschner, M. O., Dulik, M. C., Ghazani, A. A., Ghosh, R., Green, R. C., Hart, R., Horton, C., Johnston, J. J., Lebo, M. S. & 12 others, Milosavljevic, A., Ou, J., Pak, C. M., Patel, R. Y., Punj, S., Richards, C. S., Salama, J., Strande, N. T., Yang, Y., Plon, S. E., Biesecker, L. G. & Rehm, H. L., Jul 7 2016, In : American Journal of Human Genetics. 99, 1, p. 247 1 p.

Research output: Contribution to journalComment/debate

Medical Genetics
Adenosine Monophosphate
Guidelines
Research
Genes