David Valle

Professor

1971 …2020

Research output per year

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Research Output

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Review article
2020

The Deep Genome Project

Lloyd, K. C. K., Adams, D. J., Baynam, G., Beaudet, A. L., Bosch, F., Boycott, K. M., Braun, R. E., Caulfield, M., Cohn, R., Dickinson, M. E., Dobbie, M. S., Flenniken, A. M., Flicek, P., Galande, S., Gao, X., Grobler, A., Heaney, J. D., Herault, Y., De Angelis, M. H., Lupski, J. R. & 24 others, Lyonnet, S., Mallon, A. M., Mammano, F., MacRae, C. A., McInnes, R., McKerlie, C., Meehan, T. F., Murray, S. A., Nutter, L. M. J., Obata, Y., Parkinson, H., Pepper, M. S., Sedlacek, R., Seong, J. K., Shiroishi, T., Smedley, D., Tocchini-Valentini, G., Valle, D., Wang, C. K. L., Wells, S., White, J., Wurst, W., Xu, Y. & Brown, S. D. M., Feb 3 2020, In : Genome biology. 21, 1, 18.

Research output: Contribution to journalReview article

Open Access
2019

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

Robbins, S. M., Thimm, M. A., Valle, D. & Jelin, A. C., Aug 15 2019, In : Journal of Assisted Reproduction and Genetics. 36, 8, p. 1539-1548 10 p.

Research output: Contribution to journalReview article

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 798-812 15 p.

Research output: Contribution to journalReview article

2017

Skeletal dysplasias: Growing therapy for growing bones

Jelin, A. C., O'Hare, E., Blakemore, K., Jelin, E. B., Valle, D. & Hoover-Fong, J., Mar 6 2017, In : Frontiers in Pharmacology. 8, MAR, 79.

Research output: Contribution to journalReview article

2016

The genome project-write we need technology and an ethical framework for genome-scale engineering

Boeke, J. D., Church, G., Hessel, A., Kelley, N. J., Arkin, A., Cai, Y., Carlson, R., Chakravarti, A., Cornish, V. W., Holt, L., Isaacs, F. J., Kuiken, T., Lajoie, M., Lessor, T., Lunshof, J., Maurano, M. T., Mitchell, L. A., Rine, J., Rosser, S., Sanjana, N. E. & 5 others, Silver, P. A., Valle, D., Wang, H., Way, J. C. & Yang, L., Jun 2 2016, In : Science. 353, 6295, p. 126-127 2 p.

Research output: Contribution to journalReview article

2015

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

2014

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M. & 7 others, Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W. & Gunter, C., Jan 1 2014, In : Nature. 508, 7497, p. 469-476 8 p.

Research output: Contribution to journalReview article

2013

Implementing genomic medicine in the clinic: The future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., Relling, M. V. & 5 others, Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D. & Ginsburg, G. S., Apr 1 2013, In : Genetics in Medicine. 15, 4, p. 258-267 10 p.

Research output: Contribution to journalReview article

2009

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M. & 7 others, Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., MacKay, T. F. C., McCarroll, S. A. & Visscher, P. M., Oct 8 2009, In : Nature. 461, 7265, p. 747-753 7 p.

Research output: Contribution to journalReview article

2008

PRODH variants and risk for schizophrenia

Willis, A., Bender, H. U., Steel, G. & Valle, D., Nov 2008, In : Amino Acids. 35, 4, p. 673-679 7 p.

Research output: Contribution to journalReview article

2005

A science of the individual: Implications for a medical school curriculum

Childs, B., Wiener, C. & Valle, D., Oct 10 2005, In : Annual Review of Genomics and Human Genetics. 6, p. 313-330 18 p.

Research output: Contribution to journalReview article

2004

Integrating ethics and science in the International HapMap Project

Foster, M. W., Clayton, E. W., Knoppers, B. M., Qiu, R., Kent, A., Dunston, G. M., Kato, K., Niikawa, N., Adewole, I. F., Watkin, J., Zhang, H., Zeng, C., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Rotimi, C. N., Adebamowo, C. A., Aniagwu, T., Marshall, P. A. & 124 others, Matthew, O., Nkwodimmah, C., Royal, C. D. M., Leppert, M. F., Dixon, M., Valle, D. L., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T., Jasperse, M., Kwok, P. Y., Licinio, J., Long, J. C., Ossorio, P. N., Wang, V. O., Spallone, P., Terry, S. F., Gibbs, R. A., Hardenbol, P., Willis, T. D., Yu, F., Altshuler, D., Gabriel, S. B., Yang, H., Ch'ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zhang, Q., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Duan, S., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Deloukas, P., Powell, D., Daly, M. J., Schaffner, S. F., Stein, L. D., Cunningham, F., Kanani, A., Thorisson, G. A., Chen, P. E., Cutler, D. J., Kashuk, C. S., Lin, S., Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., Cardon, L. R., Abecasis, G. R., Morris, A., Weir, B. S., Mullikin, J. C., Sherry, S. T., Feolo, M., Sodergren, E., Weinstock, G. M., Birren, B. W., Wilson, R. K., Fulton, L. L., Rogers, J., Han, H., Wang, H., Godbout, M., Wallenburg, J. C., L'Archevêque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Lai, E. H., Collins, F. S., McEwen, J. E., Brooks, L. D., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Lander, E. S., Nickerson, D. A., Boehnke, M., Douglas, J. A., Hudson, R. R., Kruglyak, L. & Nussbaum, R. L., Jun 1 2004, In : Nature Reviews Genetics. 5, 6, p. 467-475 9 p.

Research output: Contribution to journalReview article

2003

Peroxisome Biogenesis Disorders

Weller, S., Gould, S. J. & Valle, D., Nov 20 2003, In : Annual Review of Genomics and Human Genetics. 4, p. 165-211 47 p.

Research output: Contribution to journalReview article

2001

Human disease genes

Jimenez-Sanchez, G., Childs, B. & Valle, D., Feb 15 2001, In : Nature. 409, 6822, p. 853-855 3 p.

Research output: Contribution to journalReview article

2000

Peroxisome biogenesis disorders: Genetics and cell biology

Gould, S. J. & Valle, D., Aug 1 2000, In : Trends in Genetics. 16, 8, p. 340-345 6 p.

Research output: Contribution to journalReview article

1999

40 years of the annual 'Bar Harbor Course' (1960-1999): A pictorial history

McKusick, V. A., Naggert, J., Nishina, P. & Valle, D., Jul 28 1999, In : Clinical Genetics. 55, 6, p. 398-415 18 p.

Research output: Contribution to journalReview article

What can we learn about age-related macular degeneration from other retinal diseases?

Zack, D. J., Dean, M., Molday, R. S., Nathans, J., Redmond, T. M., Stone, E. M., Swaroop, A., Valle, D. & Weber, B. H., Nov 3 1999, In : Molecular vision. 5, 1 p.

Research output: Contribution to journalReview article

1995

Disorders of peroxisome biogenesis

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., Jan 1 1995, In : Human molecular genetics. 4, REV. ISS., p. 1791-1798 8 p.

Research output: Contribution to journalReview article

1994

Hyperornitinemia ja silmänpohjan pyörörappeuma: suomalaisen taudin taustalla ornitiiniaminotransferaasin geenivirhe.

Translated title of the contribution: Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish diseaseSipilä, I., Valle, D., Mitchell, G. A. & Brody, L. C., 1994, In : Duodecim; lääketieteellinen aikakauskirja. 110, 7, p. 681-686 6 p.

Research output: Contribution to journalReview article

1988

Inborn errors of metabolism in the molecular age.

Valle, D. L. & Mitchell, G. A., Jan 1 1988, In : Progress in medical genetics. 7, p. 100-129 30 p.

Research output: Contribution to journalReview article

1987

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

Kaiser-Kupfer, M. I. & Valle, D. L., 1987, In : Progress in Retinal Research. 6, C, p. 179-206 28 p.

Research output: Contribution to journalReview article

1982

Gyrate atrophy of the choroid and retina.

Valle, D. & Kaiser-Kupfer, M., Jan 1 1982, In : Progress in clinical and biological research. 82, p. 123-134 12 p.

Research output: Contribution to journalReview article