Research Output

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1991

Dinucleotide repeat polymorphism at the DXYS1X locus

Browne, D. L., Zonana, J. & Litt, M., Apr 11 1991, In : Nucleic acids research. 19, 7, 1 p.

Research output: Contribution to journalComment/debate

18 Scopus citations
1992

Dinucleotide repeat polymorphism at the PGK1P1 locus

Browne, D. L., Zonana, J. & Litt, M., Mar 11 1992, In : Nucleic acids research. 20, 5, 1 p.

Research output: Contribution to journalComment/debate

11 Scopus citations

Interallelic complementation of dnaE(Ts) mutations

Bryan, S. K. & Moses, R. E., Jan 1 1992, In : Journal of bacteriology. 174, 14, p. 4850-4852 3 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations
1994

Corrigendum: Fine structure of the human FMR1 gene (Human Molecular Gentics (1993) 2 (1147-1153))

Eichler, E. E., Richards, S., Gibbs, R. A. & Nelson, D. L., Jan 1 1994, In : Human molecular genetics. 3, 4, 1 p.

Research output: Contribution to journalComment/debate

13 Scopus citations

Erratum: Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair (Nature (1993) 365 (274-276))

Strand, M., Prolla, T. A., Liskay, R. M. & Petes, T. D., Jan 1 1994, In : Nature. 368, 6471, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

Muscle biochemistry and a genetic study of myotonic distrophy

Roses, A. D., Fu, Y. H., Pearlman, J. A., Pizzuti, A., Fenwick, R. G., Friedman, D. L., Perryman, M. B., Richards, S., Gibbs, R. A., Ashizawa, T., Scarlato, G. & Caskey, C. T., Jan 1 1994, In : Science. 264, 5158, p. 587-588 2 p.

Research output: Contribution to journalComment/debate

Open Access
4 Scopus citations
1997

Erratum: Myc and Ras collaborate in inducing accumulation of active cyclin E/Cdk2 and E2F (Nature (1997) 387 (422-425))

Leone, G., DeGregori, J., Sears, R., Jakol, L. & Nevins, J. R., Jan 1 1997, In : Nature. 387, 6636, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Homozygosity mapping of the gene for Hallervoden-Spatz syndrome to chromosome 20p12.3-p13 (Nature Genetics (1996) 14 (479-481))

Taylor, T., Litt, M., Kramer, P., Pandolfo, M., Angelini, L., Nardocci, N., Pineda, M., Davies, S., Hattori, H., Flett, P. J., Cilio, M. R., Bertini, E. & Hayflick, S. J., Jan 1 1997, In : Nature genetics. 16, 1, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2002

Erratum: Standards and guidelines for CFTR mutation testing (Genetics in Medicine (2002) 4 (379-391))

Richards, C. S., Bradley, L. A., Amos, J., Allitto, B., Grody, W. W., Maddalena, A., McGinnis, M. J., Prior, T. W., Popovich, B. W. & Watson, M. S., Nov 1 2002, In : Genetics in Medicine. 4, 6, 1 p.

Research output: Contribution to journalComment/debate

Erratum: Mutation in the class II trans-activator leading to a mild immunodeficiency (The Journal of Immunology (2001) 167 (1787-1794))

Wiszniewski, W., Fondaneche, M. C., Le Deist, F., Kanariou, M., Selz, F., Brousse, N., Steimle, V., Barbieri, G., Alcaide-Loridan, C., Charron, D., Fischer, A. & Lisowska-Grospierre, B., Jul 1 2002, In : Journal of Immunology. 169, 1, 1 p.

Research output: Contribution to journalComment/debate

In reference to the Short Communication published by Ni et al.

Westaway, S. K., Hayflick, S. J., Zhou, B. & Gitschier, J. D., Dec 2002, In : The international journal of biochemistry & cell biology. 34, 12, 1 p.

Research output: Contribution to journalComment/debate

2003

Erratum: Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development (Matrix Biology (2002) 21 (637-646) PII: S0945053X02001002)

Quondamatteo, F., Reinhardt, D. P., Charbonneau, N. L., Pophal, G., Sakai, L. Y. & Herken, R., Mar 1 2003, In : Matrix Biology. 22, 1, p. 93-96 4 p.

Research output: Contribution to journalComment/debate

Erratum: SSRP1 functions as a co-activator of the transcriptional activator p63 (EMBO Journal (2004) 23 (1679) doi:10.1038/sj.emboj.7600207)

Zeng, S. X., Dai, M. S., Keller, D. M. & Lu, H., Apr 7 2004, In : EMBO Journal. 23, 7, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2006

Erratum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron (Nature Genetics (2006) 38 (752-754))

Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangul, H., Coryell, J., Canham, N., Nardocci, N., Zorzi, G., Pasha, S., Rodriguez, D., Desguerre, I., Mubaidin, A., Bertini, E., Trembath, R. C., Simonati, A., Schanen, C., Johnson, C. A. & 7 others, Levinson, B., Woods, C. G., Wilmot, B., Kramer, P., Gitschier, J., Maher, E. R. & Hayflick, S. J., Aug 1 2006, In : Nature genetics. 38, 8, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Erratum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders (Genetics in Medicine (2005) 8, (571-583))

Maddalena, A., Bale, S., Das, S., Grody, W. & Richards, C. S., Nov 1 2006, In : Genetics in Medicine. 8, 11, 1 p.

Research output: Contribution to journalComment/debate

2007

Mutations in PLA2G6 and the riddle of Schindler disease.

Westaway, S. K., Gregory, A. & Hayflick, S. J., Jan 2007, In : Journal of medical genetics. 44, 1, p. e64

Research output: Contribution to journalComment/debate

12 Scopus citations
2008

Erratum to "αB-Crystallin-reactive T cells from knockout mice are not encephalitogenic" [J. Neuroimmunol. 176 (2006) 51-62] (DOI:10.1016/j.jneuroim.2006.04.010)

Wang, C., Chou, Y. K., Rich, C. M., Link, J. M., Afentoulis, M. E., van Noort, J. M., Wawrousek, E. F., Offner, H. & Vandenbark, A. A., Dec 15 2008, In : Journal of Neuroimmunology. 205, 1-2, 1 p.

Research output: Contribution to journalComment/debate

New quality assurance standards for rare disease testing

Grody, W. W. & Richards, C. S., May 1 2008, In : Genetics in Medicine. 10, 5, p. 320-324 5 p.

Research output: Contribution to journalComment/debate

10 Scopus citations
2009

Erratum: Inhibition of c-Myc activity by ribosomal protein L11 (The EMBO Journal (2009) 28 (993) DOI: 10.1038/emboj.2009.70)

Dai, M. S., Arnold, H., Sun, X. X., Sears, R. & Lu, H., Apr 8 2009, In : EMBO Journal. 28, 7, 1 p.

Research output: Contribution to journalComment/debate

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (DOI:10.1016/j.ajhg.2009.05.005)

Stankiewicz, P., Sen, P., Bhatt, S. S., Storer, M., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Maisenbacher, M. K., Bolivar, J., Bauer, M., Zackai, E. H., McDonald-McGinn, D., Nowaczyk, M. M. J., Murray, M., Hustead, V., Mascotti, K., Schultz, R., Hallam, L. & 24 others, McRae, D., Nicholson, A. G., Newbury, R., Durham-O'Donnell, J., Knight, G., Kini, U., Shaikh, T. H., Martin, V., Tyreman, M., Simonic, I., Willatt, L., Paterson, J., Mehta, S., Jones, C. W., Rajan, D., Fitzgerald, T., Gribble, S., Prigmore, E., Patel, A., Shaffer, L. G., Carter, N. P., Cheung, S. W., Langston, C. & Shaw-Smith, C., Oct 9 2009, In : American Journal of Human Genetics. 85, 4, 1 p.

Research output: Contribution to journalComment/debate

3 Scopus citations
2010

Erratum: TIMP-2 binding with cellular MTl-MMP stimulates invasion-promoting MEK/ERK signaling in cancer cells (International Journal of Cancer (2009) 126 (1067-1078))

Sounni, N. E., Rozanov, D. V., Remade, A. G., Golubkov, V. S., Noel, A. & Stongin, A. Y., Apr 15 2010, In : International Journal of Cancer. 126, 8, 1 p.

Research output: Contribution to journalComment/debate

2011

Erratum: Haplotype-resolved genome sequencing of a Gujarati Indian individual (Nature Biotechnology (2011) 29 (59-63))

Kitzman, J. O., MacKenzie, A. P., Adey, A., Hiatt, J. B., Patwardhan, R. P., Sudmant, P. H., Ng, S. B., Alkan, C., Qiu, R., Eichler, E. E. & Shendure, J., May 1 2011, In : Nature biotechnology. 29, 5, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Erratum: Topographic enhancement mapping of the cancer-associated breast stroma using breast MRI (Integrative Biology (2011) 3 (910-921) DOI:10.1039/C1IB00043H)

Nabavizadeh, N., Klifa, C., Newitt, D., Lu, Y., Chen, Y. Y., Hsu, H., Fisher, C., Tokuyasu, T., Olshen, A. B., Spellman, P., Gray, J. W., Hylton, N. & Park, C. C., Dec 2011, In : Integrative Biology. 3, 12, 1 p.

Research output: Contribution to journalComment/debate

Erratum: Identifi cation of incestuous parental relationships by SNP-based DNA microarrays (Lancet (2011) 377 (555-556))

Schaaf, C. P., Scott, D. A., Wiszniewska, J. & Beaudet, A. L., Mar 5 2011, In : The Lancet. 377, 9768, 1 p.

Research output: Contribution to journalComment/debate

2012

Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589))

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., Rieder, M. J., Nickerson, D. A., Bernier, R., Fisher, S. E., Shendure, J. & Eichler, E. E., Apr 1 2012, In : Nature genetics. 44, 4, 1 p.

Research output: Contribution to journalComment/debate

10 Scopus citations
2013

Risk categorization for oversight of laboratory-developed tests for inherited conditions

Monaghan, K. G., Benkendorf, J., Cherry, A. M., Gross, S. J., Richards, C. S., Sutton, V. R. & Watson, M. S., Apr 1 2013, In : Genetics in Medicine. 15, 4, p. 314-315 2 p.

Research output: Contribution to journalComment/debate

9 Scopus citations

Seeking a cure for the royal pain

Harding, C. O., Dec 1 2013, In : Human Gene Therapy. 24, 12, p. 968-969 2 p.

Research output: Contribution to journalComment/debate

2014

Erratum: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72))

Tuz, K., Bachmann-Gagescu, R., O'Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O'Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bönnemann, C. G., Medne, L., Nampoothiri, S., Stark, Z., Leventer, R. J., Topçu, M., Cansu, A., Jagadeesh, S., Done, S. & 7 others, Ishak, G. E., Glass, I. A., Shendure, J., Neuhauss, S. C. F., Haldeman-Englert, C. R., Doherty, D. & Ferland, R. J., Feb 6 2014, In : American Journal of Human Genetics. 94, 2, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Erratum to: Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human [Chromosome Research, 10.1007/s10577-014-9432-x]

Schmid, M., Steinlein, C., Tian, Q., Hanlon Newell, A. E., Gessler, M., Olson, S. B., Rosenwald, A., Kneitz, B. & Fedorov, L. M., Dec 6 2014, In : Chromosome Research. 22, 4

Research output: Contribution to journalComment/debate

2015

Erratum: Functionally defined therapeutic targets in diffuse intrinsic pontine glioma(Nature Medicine (2015) 21 (555-559) DOI: 10.1038/nm.3855)

Grasso, C. S., Tang, Y., Truffaux, N., Berlow, N. E., Liu, L., Debily, M. A., Quist, M. J., Davis, L. E., Huang, E. C., Woo, P. J., Ponnuswami, A., Chen, S., Johung, T. B., Sun, W., Kogiso, M., Du, Y., Qi, L., Huang, Y., Hütt-Cabezas, M., Warren, K. E. & 20 others, Le Dret, L., Meltzer, P. S., Mao, H., Quezado, M., Van Vuurden, D. G., Abraham, J., Fouladi, M., Svalina, M. N., Wang, N., Hawkins, C., Nazarian, J., Alonso, M. M., Raabe, E. H., Hulleman, E., Spellman, P. T., Li, X. N., Keller, C., Pal, R., Grill, J. & Monje, M., Jul 7 2015, In : Nature medicine. 21, 7, 1 p.

Research output: Contribution to journalComment/debate

31 Scopus citations

Erratum to Modeling precision treatment of breast cancer [Genome Biology, 14, (2013), R110]

Daemen, A., Griffith, O. L., Heiser, L. M., Wang, N. J., Enache, O. M., Sanborn, Z., Pepin, F., Durinck, S., Korkola, J. E., Griffith, M., Hur, J. S., Huh, N., Chung, J., Cope, L., Fackler, M. J., Umbricht, C., Sukumar, S., Seth, P., Sukhatme, V. P., Jakkula, L. R. & 7 others, Lu, Y., Mills, G. B., Cho, R. J., Collisson, E. A., van't Veer, L. J., Spellman, P. T. & Gray, J. W., May 12 2015, In : Genome biology. 16, 1, 95.

Research output: Contribution to journalComment/debate

2 Scopus citations
2016

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, 1 p.

Research output: Contribution to journalComment/debate

4 Scopus citations

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., 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

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, 1 p.

Research output: Contribution to journalComment/debate

53 Scopus citations
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. E., Collisson, E. A., Heiser, L. M., 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. B., Spellman, P. T. & 3 others, Tomlin, C., Mukherjee, S. & Gray, J. W., Oct 2017, In : PloS one. 12, 10, e0186551.

Research output: Contribution to journalComment/debate

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. E., Bayani, N., Samarajiwa, S., Seoane, J. A., Dane, M. A., Esch, A., Feiler, H. S., Wang, N. J., Hardwicke, M. A., Laquerre, S., Jackson, J., Wood, K. W., Weber, B. & 5 others, Spellman, P. T., Aparicio, S., Wooster, R., Caldas, C. & Gray, J. W., Feb 9 2017, In : Breast Cancer Research. 19, 1, 17.

Research output: Contribution to journalComment/debate

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. D., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Aaron Kay, W., Aug 1 2017, In : Journal of Genetic Counseling. 26, 4, 1 p.

Research output: Contribution to journalComment/debate

Haplotype resolution at the single-cell level

Adey, A. C., 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

1 Scopus citations

p73 to the rescue: Role of RPL26

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

Research output: Contribution to journalComment/debate

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. Y., May 2018, In : PloS one. 13, 5, e0197631.

Research output: Contribution to journalComment/debate

Open Access

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

63 Scopus citations
28 Scopus citations

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

4 Scopus citations
2019

ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee, Oct 1 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 10, 1 p.

Research output: Contribution to journalComment/debate

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
2 Scopus citations

Correction: Modeling differentiation-state transitions linked to therapeutic escape in triple-negative breast cancer (PLOS Comput BIOL (2019) 15:3 (E1006840) DOI: 10.1371/journal.pcbi.1006840)

Chapman, M. P., Risom, T., Aswani, A. J., Langer, E. M., Sears, R. C. & Tomlin, C. J., 2019, In : PLoS computational biology. 15, 10, e1007441.

Research output: Contribution to journalComment/debate

Open Access