Research Output

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Review article
2020

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

Lee, J. H., Yun, J. Y., Gregory, A., Hogarth, P. & Hayflick, S., Sep 10 2020, In : Frontiers in Neurology. 11, 1024.

Research output: Contribution to journalReview article

Open Access
2019
Open Access
16 Scopus citations

Copper and the brain noradrenergic system

Lutsenko, S., Washington-Hughes, C., Ralle, M. & Schmidt, K., Dec 1 2019, In : Journal of Biological Inorganic Chemistry. 24, 8, p. 1179-1188 10 p.

Research output: Contribution to journalReview article

4 Scopus citations

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

van Ginkel, W. G., Rodenburg, I. L., Harding, C. O., Hollak, C. E. M., Heiner-Fokkema, M. R. & van Spronsen, F. J., Dec 1 2019, In : Pediatric Drugs. 21, 6, p. 413-426 14 p.

Research output: Contribution to journalReview article

1 Scopus citations

Mission Possible: Advances in MYC Therapeutic Targeting in Cancer

Allen-Petersen, B. L. & Sears, R. C., Oct 1 2019, In : BioDrugs. 33, 5, p. 539-553 15 p.

Research output: Contribution to journalReview article

Open Access
10 Scopus citations

State-of-the-Art 2019 on Gene Therapy for Phenylketonuria

Grisch-Chan, H. M., Schwank, G., Harding, C. O. & Thöny, B., Oct 2019, In : Human Gene Therapy. 30, 10, p. 1274-1283 10 p.

Research output: Contribution to journalReview article

4 Scopus citations

Writing and erasing MYC ubiquitination and SUMOylation

Chen, Y., Sun, X. X., Sears, R. C. & Dai, M. S., Dec 2019, In : Genes and Diseases. 6, 4, p. 359-371 13 p.

Research output: Contribution to journalReview article

Open Access
4 Scopus citations
2017

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

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. & Kay, W. A., Aug 1 2017, In : Journal of Genetic Counseling. 26, 4, p. 669-688 20 p.

Research output: Contribution to journalReview article

2 Scopus citations

Circulating-tumor DNA as an early detection and diagnostic tool

Butler, T. M., Spellman, P. T. & Gray, J., Feb 1 2017, In : Current Opinion in Genetics and Development. 42, p. 14-21 8 p.

Research output: Contribution to journalReview article

31 Scopus citations

The curse of the dolphins: Cognitive decline and psychosis

Phelps, R., Tsai, A., Hagen, A., Pinter, J., Smith, R. & Stein, M. T., Jan 1 2017, In : Journal of Developmental and Behavioral Pediatrics. 38, 2, p. S16-S18

Research output: Contribution to journalReview article

2016

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders

Sakai, L. Y., Keene, D. R., Renard, M. & De Backer, J., Oct 10 2016, In : Gene. 592, 1, p. 279-291 13 p.

Research output: Contribution to journalReview article

67 Scopus citations
2015

Corneal stroma microfibrils

Hanlon, S. D., Behzad, A. R., Sakai, L. Y. & Burns, A. R., Mar 1 2015, In : Experimental Eye Research. 132, p. 198-207 10 p.

Research output: Contribution to journalReview article

14 Scopus citations

Haplotype-resolved genome sequencing: Experimental methods and applications

Snyder, M. W., Adey, A., Kitzman, J. O. & Shendure, J., May 18 2015, In : Nature Reviews Genetics. 16, 6, p. 344-358 15 p.

Research output: Contribution to journalReview article

82 Scopus citations

Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology

Barnard, R. A., Pomaville, M. B. & O'Roak, B. J., 2015, In : Frontiers in Neuroscience. 9, DEC, 00477.

Research output: Contribution to journalReview article

32 Scopus citations

The activities of MYC, MNT and the MAX-interactome in lymphocyte proliferation and oncogenesis

Link, J. M. & Hurlin, P. J., May 1 2015, In : Biochimica et Biophysica Acta - Gene Regulatory Mechanisms. 1849, 5, p. 554-562 9 p.

Research output: Contribution to journalReview article

17 Scopus citations

The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?

Sengle, G. & Sakai, L. Y., Sep 1 2015, In : Matrix Biology. 47, p. 3-12 10 p.

Research output: Contribution to journalReview article

Open Access
46 Scopus citations

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover-Fong, J., Mathews, D., Witmer, P. D., Ling, H., Hetrick, K. & 22 others, Watkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A. & Bamshad, M. J., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 199-215 17 p., 1908.

Research output: Contribution to journalReview article

299 Scopus citations
2014

A de novo convergence of autism genetics and molecular neuroscience

Krumm, N., O'Roak, B. J., Shendure, J. & Eichler, E. E., Feb 2014, In : Trends in Neurosciences. 37, 2, p. 95-105 11 p.

Research output: Contribution to journalReview article

258 Scopus citations

Phelan-McDermid syndrome: A review of the literature and practice parameters for medical assessment and monitoring

Kolevzon, A., Angarita, B., Bush, L., Wang, A. T., Frank, Y., Yang, A., Rapaport, R., Saland, J., Srivastava, S., Farrell, C., Edelmann, L. J. & Buxbaum, J. D., Oct 8 2014, In : Journal of Neurodevelopmental Disorders. 6, 1, 39.

Research output: Contribution to journalReview article

Open Access
52 Scopus citations

The EGAPP initiative: Lessons learned

Calonge, N., Klein, R. D., Berg, A. O., Berg, J. S., Armstrong, K., Botkin, J., Campos-Outcalt, D., Djulbegovic, B., Fisher, N. L., Ganiats, T. G., Haddow, J. E., Hayes, M., Janssens, A. C. J. W., Kaye, C., Lyman, D. O., Offit, K., Pauker, S. G., Phillips, K. A., Piper, M., Richards, C. S. & 7 others, Scott, J. A., Strickland, O. L., Teutsch, S., Tunis, S. R., Veenstra, D. L., Williams, M. S. & Zallen, D. T., Mar 2014, In : Genetics in Medicine. 16, 3, p. 217-224 8 p.

Research output: Contribution to journalReview article

33 Scopus citations
2013

Beta-propeller protein-associated neurodegeneration: A new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., Dandu, V. H., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Holden, K. R., Frucht, S., Hanspal, E., Schrander-Stumpel, C. & 18 others, Mignot, C., Héron, D., Saunders, D. E., Kaminska, M., Lin, J. P., Lascelles, K., Cuno, S. M., Meyer, E., Garavaglia, B., Bhatia, K., De Silva, R., Crisp, S., Lunt, P., Carey, M., Hardy, J., Meitinger, T., Prokisch, H. & Hogarth, P., Jun 2013, In : Brain. 136, 6, p. 1708-1717 10 p.

Research output: Contribution to journalReview article

128 Scopus citations

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Kalman, L. V., Lubin, I. M., Barker, S., Du Sart, D., Elles, R., Grody, W. W., Pazzagli, M., Richards, S., Schrijver, I. & Zehnbauer, B., Jul 2013, In : Archives of Pathology and Laboratory Medicine. 137, 7, p. 983-988 6 p.

Research output: Contribution to journalReview article

34 Scopus citations

Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: An EGAPP methods update

Veenstra, D. L., Piper, M., Haddow, J. E., Pauker, S. G., Klein, R., Richards, C. S., Tunis, S. R., Djulbegovic, B., Marrone, M., Lin, J. S., Berg, A. O. & Calonge, N., Jan 2013, In : Genetics in Medicine. 15, 1, p. 14-24 11 p.

Research output: Contribution to journalReview article

39 Scopus citations

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

Hogarth, P., Gregory, A., Kruer, M. C., Sanford, L., Wagoner, W., Natowicz, M. R., Egel, R. T., Subramony, S. H., Goldman, J. G., Berry-Kravis, E., Foulds, N. C., Hammans, S. R., Desguerre, I., Rodriguez, D., Wilson, C., Diedrich, A., Green, S., Tran, H., Reese, L., Woltjer, R. L. & 1 others, Hayflick, S. J., Jan 15 2013, In : Neurology. 80, 3, p. 268-275 8 p.

Research output: Contribution to journalReview article

96 Scopus citations

Opportunities in multidimensional trace metal imaging: Taking copper-associated disease research to the next level

Vogt, S. & Ralle, M., 2013, In : Analytical and Bioanalytical Chemistry. 405, 6, p. 1809-1820 12 p.

Research output: Contribution to journalReview article

30 Scopus citations

The cancer genome atlas pan-cancer analysis project

Weinstein, J. N., Collisson, E. A., Mills, G. B., Shaw, K. R. M., Ozenberger, B. A., Ellrott, K., Sander, C., Stuart, J. M., Chang, K., Creighton, C. J., Davis, C., Donehower, L., Drummond, J., Wheeler, D., Ally, A., Balasundaram, M., Birol, I., Butterfield, Y. S. N., Chu, A., Chuah, E. & 316 others, Chun, H. J. E., Dhalla, N., Guin, R., Hirst, M., Hirst, C., Holt, R. A., Jones, S. J. M., Lee, D., Li, H. I., Marra, M. A., Mayo, M., Moore, R. A., Mungall, A. J., Robertson, A. G., Schein, J. E., Sipahimalani, P., Tam, A., Thiessen, N., Varhol, R. J., Beroukhim, R., Bhatt, A. S., Brooks, A. N., Cherniack, A. D., Freeman, S. S., Gabriel, S. B., Helman, E., Jung, J., Meyerson, M., Ojesina, A. I., Pedamallu, C. S., Saksena, G., Schumacher, S. E., Tabak, B., Zack, T., Lander, E. S., Bristow, C. A., Hadjipanayis, A., Haseley, P., Kucherlapati, R., Lee, S., Lee, E., Luquette, L. J., Mahadeshwar, H. S., Pantazi, A., Parfenov, M., Park, P. J., Protopopov, A., Ren, X., Santoso, N., Seidman, J., Seth, S., Song, X., Tang, J., Xi, R., Xu, A. W., Yang, L., Zeng, D., Auman, J. T., Balu, S., Buda, E., Fan, C., Hoadley, K. A., Jones, C. D., Meng, S., Mieczkowski, P. A., Parker, J. S., Perou, C. M., Roach, J., Shi, Y., Silva, G. O., Tan, D., Veluvolu, U., Waring, S., Wilkerson, M. D., Wu, J., Zhao, W., Bodenheimer, T., Hayes, D. N., Hoyle, A. P., Jeffreys, S. R., Mose, L. E., Simons, J. V., Soloway, M. G., Baylin, S. B., Berman, B. P., Bootwalla, M. S., Danilova, L., Herman, J. G., Hinoue, T., Laird, P. W., Rhie, S. K., Shen, H., Triche, T., Weisenberger, D. J., Carter, S. L., Cibulskis, K., Chin, L., Zhang, J., Sougnez, C., Wang, M., Getz, G., Dinh, H., Doddapaneni, H. V., Gibbs, R., Gunaratne, P., Han, Y., Kalra, D., Kovar, C., Lewis, L., Morgan, M., Morton, D., Muzny, D., Reid, J., Xi, L., Cho, J., Dicara, D., Frazer, S., Gehlenborg, N., Heiman, D. I., Kim, J., Lawrence, M. S., Lin, P., Liu, Y., Noble, M. S., Stojanov, P., Voet, D., Zhang, H., Zou, L., Stewart, C., Bernard, B., Bressler, R., Eakin, A., Iype, L., Knijnenburg, T., Kramer, R., Kreisberg, R., Leinonen, K., Lin, J., Liu, Y., Miller, M., Reynolds, S. M., Rovira, H., Shmulevich, I., Thorsson, V., Yang, D., Zhang, W., Amin, S., Wu, C. J., Wu, C. C., Akbani, R., Aldape, K., Baggerly, K. A., Broom, B., Casasent, T. D., Cleland, J., Dodda, D., Edgerton, M., Han, L., Herbrich, S. M., Ju, Z., Kim, H., Lerner, S., Li, J., Liang, H., Liu, W., Lorenzi, P. L., Lu, Y., Melott, J., Nguyen, L., Su, X., Verhaak, R., Wang, W., Wong, A., Yang, Y., Yao, J., Yao, R., Yoshihara, K., Yuan, Y., Yung, A. K., Zhang, N., Zheng, S., Ryan, M., Kane, D. W., Aksoy, B. A., Ciriello, G., Dresdner, G., Gao, J., Gross, B., Jacobsen, A., Kahles, A., Ladanyi, M., Lee, W., Lehmann, K. V., Miller, M. L., Ramirez, R., Rätsch, G., Reva, B., Schultz, N., Senbabaoglu, Y., Shen, R., Sinha, R., Sumer, S. O., Sun, Y., Taylor, B. S., Weinhold, N., Fei, S., Spellman, P., Benz, C., Carlin, D., Cline, M., Craft, B., Goldman, M., Haussler, D., Ma, S., Ng, S., Paull, E., Radenbaugh, A., Salama, S., Sokolov, A., Swatloski, T., Uzunangelov, V., Waltman, P., Yau, C., Zhu, J., Hamilton, S. R., Abbott, S., Abbott, R., Dees, N. D., Delehaunty, K., Ding, L., Dooling, D. J., Eldred, J. M., Fronick, C. C., Fulton, R., Fulton, L. L., Kalicki-Veizer, J., Kanchi, K. L., Kandoth, C., Koboldt, D. C., Larson, D. E., Ley, T. J., Lin, L., Lu, C., Magrini, V. J., Mardis, E. R., McLellan, M. D., McMichael, J. F., Miller, C. A., O'Laughlin, M., Pohl, C., Schmidt, H., Smith, S. M., Walker, J., Wallis, J. W., Wendl, M. C., Wilson, R. K., Wylie, T., Zhang, Q., Burton, R., Jensen, M. A., Kahn, A., Pihl, T., Pot, D., Wan, Y., Levine, D. A., Black, A. D., Bowen, J., Frick, J., Gastier-Foster, J. M., Harper, H. A., Helsel, C., Leraas, K. M., Lichtenberg, T. M., McAllister, C., Ramirez, N. C., Sharpe, S., Wise, L., Zmuda, E., Chanock, S. J., Davidsen, T., Demchok, J. A., Eley, G., Felau, I., Sheth, M., Sofia, H., Staudt, L., Tarnuzzer, R., Wang, Z., Yang, L., Zhang, J., Omberg, L., Margolin, A., Raphael, B. J., Vandin, F., Wu, H. T., Leiserson, M. D. M., Benz, S. C., Vaske, C. J., Noushmehr, H., Wolf, D., Veer, L. V. T., Anastassiou, D., Yang, T. H. O., Lopez-Bigas, N., Gonzalez-Perez, A., Tamborero, D., Xia, Z., Li, W., Cho, D. Y., Przytycka, T., Hamilton, M., McGuire, S., Nelander, S., Johansson, P., Jörnsten, R. & Kling, T., Oct 1 2013, In : Nature genetics. 45, 10, p. 1113-1120 8 p.

Research output: Contribution to journalReview article

2378 Scopus citations
2012

Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

Prohaska, R., Sibon, O. C. M., Rudnicki, D. D., Danek, A., Hayflick, S. J., Verhaag, E. M., Vonk, J. J., Margolis, R. L. & Walker, R. H., Jun 2012, In : Neurobiology of Disease. 46, 3, p. 607-624 18 p.

Research output: Contribution to journalReview article

30 Scopus citations

Mammary analog secretory carcinoma of salivary glands: A report of 2 cases in the lips

Kratochvil, F. J., Stewart, J. C. B. & Moore, S. R., Nov 2012, In : Oral surgery, oral medicine, oral pathology and oral radiology. 114, 5, p. 630-635 6 p.

Research output: Contribution to journalReview article

31 Scopus citations

Neuroimaging features of neurodegeneration with brain iron accumulation

Kruer, M. C., Boddaert, N., Schneider, A., Houlden, H., Bhatia, K. P., Gregory, A., Anderson, J. C., Rooney, W. D., Hogarth, P. & Hayflick, S. J., Mar 2012, In : American Journal of Neuroradiology. 33, 3, p. 407-414 8 p.

Research output: Contribution to journalReview article

133 Scopus citations

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Fletcher, A. L., Pennesi, M. E., Harding, C. O., Weleber, R. G. & Gillingham, M. B., May 2012, In : Molecular Genetics and Metabolism. 106, 1, p. 18-24 7 p.

Research output: Contribution to journalReview article

30 Scopus citations
2011

Genomic medicine and neurological disease

Boone, P. M., Wiszniewski, W. & Lupski, J. R., Jul 2011, In : Human genetics. 130, 1, p. 103-121 19 p.

Research output: Contribution to journalReview article

15 Scopus citations

Up to date knowledge on different treatment strategies for phenylketonuria

Bélanger-Quintana, A., Burlina, A., Harding, C. O. & Muntau, A. C., 2011, In : Molecular Genetics and Metabolism. 104, SUPPL., p. S19-S25

Research output: Contribution to journalReview article

53 Scopus citations
2010

Biogenesis and function of fibrillin assemblies

Ramirez, F. & Sakai, L. Y., Jan 2010, In : Cell and tissue research. 339, 1, p. 71-82 12 p.

Research output: Contribution to journalReview article

126 Scopus citations

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Spiekerkoetter, U., Bastin, J., Gillingham, M., Morris, A., Wijburg, F. & Wilcken, B., Oct 2010, In : Journal of inherited metabolic disease. 33, 5, p. 555-561 7 p.

Research output: Contribution to journalReview article

70 Scopus citations

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Seminara, J., Tuchman, M., Krivitzky, L., Krischer, J., Lee, H. S., LeMons, C., Baumgartner, M., Cederbaum, S., Diaz, G. A., Feigenbaum, A., Gallagher, R. C., Harding, C. O., Kerr, D. S., Lanpher, B., Lee, B., Lichter-Konecki, U., McCandless, S. E., Merritt, J. L., Oster-Granite, M. L., Seashore, M. R. & 5 others, Stricker, T., Summar, M., Waisbren, S., Yudkoff, M. & Batshaw, M. L., 2010, In : Molecular Genetics and Metabolism. 100, SUPPL., p. S97-S105

Research output: Contribution to journalReview article

52 Scopus citations

Therapeutic liver repopulation for phenylketonuria

Harding, C. O. & Gibson, K. M., Dec 1 2010, In : Journal of inherited metabolic disease. 33, 6, p. 681-687 7 p.

Research output: Contribution to journalReview article

14 Scopus citations
2009

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

Gregory, A., Polster, B. J. & Hayflick, S. J., Feb 2009, In : Journal of medical genetics. 46, 2, p. 73-80 8 p.

Research output: Contribution to journalReview article

240 Scopus citations

Planning the human variome project: The Spain report

Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Aqeel, A. I. A., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcer, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., Cambon-Thomsen, A. & 82 others, Cargill, M., Carrera, P., Cavedon, L., Cho, Y. S., Chung, Y. J., Claustres, M., Cutting, G., Dalgleish, R., Dunnen, J. T. D., Díaz, C., Dobrowolski, S., Santos, M. R. N. D., Ekong, R., Flanagan, S. B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M. V., Greenblatt, M. S., Hamosh, A., Hancock, J. M., Hardison, R., Harrison, T. M., Hoffmann, R., Horaitis, R., Howard, H. J., Barash, C. I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y. S., Lee, J. Y., Gil-da-Silva-Lopes, V. L., Macrae, F. A., Maglott, D., Marafie, M. J., Marsh, S. G. E., Matsubara, Y., Messiaen, L. M., Möslein, G., Netea, M. G., Norton, M. L., Oefner, P. J., Oetting, W. S., O'Leary, J. C., De Ramirez, A. M. O., Paalman, M. H., Parboosingh, J., Patrinos, G. P., Perozzi, G., R.Phillips, I., Povey, S., Prasad, S., Qi, M., Quin, D. J., Ramesar, R. S., Richards, C. S., Savige, J., Scheible, D. G., Scott, R. J., Seminara, D., Shephard, E. A., Sijmons, R. H., Smith, T. D., Sobrido, M. J., Tanaka, T., Tavtigian, S. V., Taylor, G. R., Teague, J., Töpel, T., Ullman-Cullere, M., Utsunomiya, J., Van Kranen, H. J., Vihinen, M., Webb, E., Weber, T. K., Yeager, M., Yeom, Y. I., Yim, S. H. & Yoo, H. S., Apr 2009, In : Human mutation. 30, 4, p. 496-510 15 p.

Research output: Contribution to journalReview article

38 Scopus citations

Recommendations from the EGAPP working group: Can UCT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?

Berg, A. O., Armstrong, K., Botkin, J., Calonge, N., Haddow, J., Hayes, M., Kaye, C., Phillips, K. A., Piper, M., Richards, C. S., Scott, J. A., Strickland, O. L. & Teutsch, S., Jan 2009, In : Genetics in Medicine. 11, 1, p. 15-20 6 p.

Research output: Contribution to journalReview article

93 Scopus citations

Recommendations from the EGAPP Working Group: Can tumor gene expression profiling improve outcomes in patients with breast cancer?

Berg, A. O., Armstrong, K., Botkin, J., Calonge, N., Haddow, J., Hayes, M., Kaye, C., Phillips, K. A., Piper, M., Richards, C. S., Scott, J. A., Strickland, O. L. & Teutsch, S., Jan 2009, In : Genetics in Medicine. 11, 1, p. 66-73 8 p.

Research output: Contribution to journalReview article

119 Scopus citations

Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

Berg, A. O., Armstrong, K., Botkin, J., Calonge, N., Haddow, J., Hayes, M., Kaye, C., Phillips, K. A., Piper, M., Richards, C. S., Scott, J. A., Strickland, O. L. & Teutsch, S., Jan 2009, In : Genetics in Medicine. 11, 1, p. 35-41 7 p.

Research output: Contribution to journalReview article

472 Scopus citations
2008

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R., Lyon, E. & Ward, B. E., Apr 2008, In : Genetics in Medicine. 10, 4, p. 294-300 7 p.

Research output: Contribution to journalReview article

519 Scopus citations

A tumor suppressor role for PP2A-B56α through negative regulation of c-Myc and other key oncoproteins

Arnold, H. K. & Sears, R. C., Jun 2008, In : Cancer and Metastasis Reviews. 27, 2, p. 147-158 12 p.

Research output: Contribution to journalReview article

74 Scopus citations

Autism genetics: Strategies, challenges, and opportunities

O'Roak, B. J. & State, M. W., 2008, In : Autism Research. 1, 1, p. 4-17 14 p.

Research output: Contribution to journalReview article

93 Scopus citations

Crosstalk between c-Myc and ribosome in ribosomal biogenesis and cancer

Dai, M. S. & Lu, H., Oct 15 2008, In : Journal of cellular biochemistry. 105, 3, p. 670-677 8 p.

Research output: Contribution to journalReview article

81 Scopus citations

Progress toward cell-directed therapy for phenylketonuria

Harding, C. O., Aug 2008, In : Clinical Genetics. 74, 2, p. 97-104 8 p.

Research output: Contribution to journalReview article

30 Scopus citations

Report of the national heart, lung, and blood institute and national marfan foundation working group on research in marfan syndrome and related disorders

Pearson, G. D., Devereux, R., Loeys, B., Maslen, C., Milewicz, D., Pyeritz, R., Ramirez, F., Rifkin, D., Sakai, L., Svensson, L., Wessels, A., Van Eyk, J. & Dietz, H. C., Aug 12 2008, In : Circulation. 118, 7, p. 785-791 7 p.

Research output: Contribution to journalReview article

84 Scopus citations
2007

Extracellular microfibrils in development and disease

Ramirez, F., Sakai, L. Y., Rifkin, D. B. & Dietz, H. C., Sep 2007, In : Cellular and Molecular Life Sciences. 64, 18, p. 2437-2446 10 p.

Research output: Contribution to journalReview article

39 Scopus citations

Feedback regulation of c-Myc by ribosomal protein L11

Dai, M. S., Sears, R. & Lu, H., Nov 15 2007, In : Cell Cycle. 6, 22, p. 2735-2741 7 p.

Research output: Contribution to journalReview article

Open Access
35 Scopus citations

Recommendations from the EGAPP Working Group: Testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors

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