David Valle

Professor

1971 …2020

Research output per year

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Research Output

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: Evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Baumgartner, M. R., Dantas, M. F., Suormala, T., Almashanu, S., Giunta, C., Friebel, D., Gebhardt, B., Fowler, B., Hoffmann, G. F., Baumgartner, E. R. & Valle, D., Nov 2004, In : American journal of human genetics. 75, 5, p. 790-800 11 p.

Research output: Contribution to journalArticle

Isolation and characterization of an ornithine aminotransferase-related sequence (oatl3) mapping to 10q26

Geraghty, M. T., Kearns, W. G., Pearson, P. L. & Valle, D., Aug 1993, In : Genomics. 17, 2, p. 510-513 4 p.

Research output: Contribution to journalArticle

Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase

FitzPatrick, D. R., Germain-Lee, E. & Valle, D., Jun 10 1995, In : Genomics. 27, 3, p. 457-466 10 p.

Research output: Contribution to journalArticle

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

Chang, C. C., Lee, W. H., Moser, H., Valle, D. & Gould, S. J., Apr 1 1997, In : Nature genetics. 15, 4, p. 385-388 4 p.

Research output: Contribution to journalArticle

Lessons learned from the search for genes responsible for rare mendelian disorders

Sobreira, N. L. & Valle, D., Jul 1 2016, In : Molecular Genetics and Genomic Medicine. 4, 4, p. 371-375 5 p.

Research output: Contribution to journalComment/debate

Open Access

Linkage and association on 8p21.2-p21.1 in schizophrenia

Fallin, M. D., Lasseter, V. K., Liu, Y., Avramopoulos, D., McGrath, J., Wolyniec, P. S., Nestadt, G., Liang, K. Y., Chen, P. L., Valle, D. & Pulver, A. E., Mar 1 2011, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 156, 2, p. 188-197 10 p.

Research output: Contribution to journalArticle

Localization of the 70-kda peroxisomal membrane protein to human 1p21-p22 and mouse 3

Gärtner, J., Kearns, W., Rosenberg, C., Pearson, P., Copeland, N. G., Gilbert, D. J., Jenkins, N. A. & Valle, D., Feb 1993, In : Genomics. 15, 2, p. 412-414 3 p.

Research output: Contribution to journalArticle

Making evolutionary biology a basic science for medicine

Nesse, R. M., Bergstrom, C. T., Ellison, P. T., Flier, J. S., Gluckman, P., Govindaraju, D. R., Niethammer, D., Omenn, G. S., Perlman, R. L., Schwartz, M. D., Thomas, M. G., Stearns, S. C. & Valle, D., Jan 26 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, SUPPL. 1, p. 1800-1807 8 p.

Research output: Contribution to journalArticle

Mammalian orthologs of C. elegans unc-119 Highly expressed in photoreceptors

Swanson, D. A., Chang, J. T., Campochiaro, P. A., Zack, D. J. & Valle, D., Oct 1 1998, In : Investigative Ophthalmology and Visual Science. 39, 11, p. 2085-2094 10 p.

Research output: Contribution to journalArticle

Mannosidosis in an adult

Montgomery, T. R., Thomas, G. H. & Valle, D. L., Dec 1 1982, In : Johns Hopkins Medical Journal. 151, 3, p. 113-116 4 p.

Research output: Contribution to journalArticle

Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration

Wang, T., Lawler, A. M., Steel, G., Sipila, I., Milam, A. H. & Valle, D., Oct 1995, In : Nature genetics. 11, 2, p. 185-190 6 p.

Research output: Contribution to journalArticle

Microdeletions of 3q29 confer high risk for schizophrenia

Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., Cutler, D. J., Pulver, A. E. & Warren, S. T., Aug 13 2010, In : American journal of human genetics. 87, 2, p. 229-236 8 p.

Research output: Contribution to journalArticle

MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster

Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B. & Valle, D., Aug 24 2007, In : Journal of Biological Chemistry. 282, 34, p. 25053-25066 14 p.

Research output: Contribution to journalArticle

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D. & Smith, R. J. H., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 646-652 7 p.

Research output: Contribution to journalArticle

Mobile interspersed repeats are major structural variants in the human genome

Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D., Civin, C. I., Wang, T., Wheelan, S. J., Ji, H., Boeke, J. D. & Burns, K. H., Jun 1 2010, In : Cell. 141, 7, p. 1171-1182 12 p.

Research output: Contribution to journalArticle

Molecular analysis of the gene encoding the alpha subunit of G(s) in Albright's hereditary osteodystrophy

Patten, J. L., Johns, D. R., Valle, D. G., Eil, C. & Levine, M. A., Jan 1 1990, Calcium regulation and bone metabolism. Basic and clinical aspects: proceedings of the 10th International Conference on calcium regulating hormones and bone metabolism. ICS886. Cohn, D. V., Glorieux, F. H., Martin, T. J., Cohn, D. V., Glorieux, F. H. & Martin, T. J. (eds.). Elsevier Science Publishers B.V., p. 45-50 6 p. (Calcium regulation and bone metabolism. Basic and clinical aspects: proceedings of the 10th International Conference on calcium regulating hormones and bone metabolism. ICS886).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency

Ameratunga, R., Winkelstein, J. A., Brody, L., Binns, M., Cork, L. C., Colombani, P. & Valle, D., Mar 15 1998, In : Journal of Immunology. 160, 6, p. 2824-2830 7 p.

Research output: Contribution to journalArticle

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

Hatzimanolis, A., McGrath, J. A., Wang, R., Li, T., Wong, P. C., Nestadt, G., Wolyniec, P. S., Valle, D., Pulver, A. E. & Avramopoulos, D., Jun 11 2013, In : Translational psychiatry. 3, e264.

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine-2-carboxylic acid: Changes in the biosynthesis of proline from glutamic acid

Smith, R. J., Lodato, R. F. & Valle, D., Jan 1 1982, In : Federation Proceedings. 41, 4, p. No. 5236

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine‐2‐carboxylic acid: Alterations in the synthesis of proline from glutamic acid

Lodato, R. F., Smith, R. J., Valle, D. L. & Crane, K., Apr 1984, In : Journal of Cellular Physiology. 119, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine carboxylic acid: Quantitative and qualitative differences in pyrroline-5-carboxylate synthase activity

Smith, R. J., Lodato, R. F., Valle, D. L. & Kazakis, A., Apr 15 1981, In : Biochemical and Biophysical Research Communications. 99, 3, p. 789-795 7 p.

Research output: Contribution to journalArticle

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H. & Valle, D., Oct 18 2002, In : Human mutation. 20, 4, p. 284-297 14 p.

Research output: Contribution to journalArticle

Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy

Patten, J. L., Johns, D. R., Valle, D., Eil, C., Gruppuso, P. A., Steele, G., Smallwood, P. M. & Levine, M. A., May 17 1990, In : New England Journal of Medicine. 322, 20, p. 1412-1419 8 p.

Research output: Contribution to journalArticle

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Shenje, L. T., Andersen, P., Halushka, M. K., Lui, C., Fernandez, L., Collin, G. B., Amat-Alarcon, N., Meschino, W., Cutz, E., Chang, K., Yonescu, R., Batista, D. A. S., Chen, Y., Chelko, S., Crosson, J. E., Scheel, J., Vricella, L., Craig, B. D., Marosy, B. A., Mohr, D. W. & 8 others, Hetrick, K. N., Romm, J. M., Scott, A. F., Valle, D., Naggert, J. K., Kwon, C., Doheny, K. F. & Judge, D. P., Mar 4 2014, In : Nature communications. 5, 3416.

Research output: Contribution to journalArticle

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Wu, Y., Arai, A. C., Rumbaugh, G., Srivastava, A. K., Turner, G., Hayashi, T., Suzuki, E., Jiang, Y., Zhang, L., Rodriguez, J., Boyle, J., Tarpey, P., Raymond, F. L., Nevelsteen, J., Froyen, G., Stratton, M., Futreal, A., Gecz, J., Stevenson, R., Schwartz, C. E. & 3 others, Valle, D., Huganir, R. L. & Wang, T., Nov 13 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 46, p. 18163-18168 6 p.

Research output: Contribution to journalArticle

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D. & Pauli, R. M., Jan 2 2014, In : American journal of human genetics. 94, 1, p. 105-112 8 p.

Research output: Contribution to journalArticle

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D. & Gould, S. J., Jan 1 1997, In : Nature genetics. 17, 4, p. 445-448 4 p.

Research output: Contribution to journalArticle

Mutations in the 70K peroxisomal membrane protein gene in zellweger syndrome

Gärtner, J., Moser, H. & Valle, D., Apr 1992, In : Nature genetics. 1, 1, p. 16-23 8 p.

Research output: Contribution to journalArticle

Mutations in the gene encoding 3β-hydroxysteroid-Δ87-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I. & Valle, D., Jul 1 1999, In : Nature genetics. 22, 3, p. 291-294 4 p.

Research output: Contribution to journalArticle

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D. & Gould, S. J., Feb 1995, In : Nature genetics. 9, 2, p. 115-125 11 p.

Research output: Contribution to journalArticle

Mutations in the Δ1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Geraghty, M. T., Vaughn, D., Nicholson, A. J., Lin, W. W., Jimenez-Sanchez, G., Obie, C., Flynn, M. P., Valle, D. & Hu, C. A. A., Sep 1 1998, In : Human molecular genetics. 7, 9, p. 1411-1415 5 p.

Research output: Contribution to journalArticle

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

El Abiad, J. M., Robbins, S. M., Cohen, B., Levin, A. S., Valle, D. L., Morris, C. D. & de Macena Sobreira, N. L., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1093-1103 11 p.

Research output: Contribution to journalArticle

Neonatal cholestasis as initial manifestation of type 2 gaucher disease: A continuum in the spectrum of early onset gaucher disease

Elias, A. F., Johnson, M. R., Boitnott, J. K. & Valle, D., Jan 1 2012, JIMD Reports. Springer, p. 95-98 4 p. (JIMD Reports; vol. 5).

Research output: Chapter in Book/Report/Conference proceedingChapter

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Ben-Salem, S., Nara, S., Al-Shamsi, A. M., Valle, D., Ali, B. R. & Al-Gazali, L., Aug 1 2015, In : Journal of Dermatology. 42, 8, p. 821-822 2 p.

Research output: Contribution to journalLetter

NEW PATHWAYS OF NITROGEN EXCRETION IN INBORN ERRORS OF UREA SYNTHESIS

Brusilow, S. W., Valle, D. L. & Batshaw, M. L., Sep 1 1979, In : The Lancet. 314, 8140, p. 452-454 3 p.

Research output: Contribution to journalShort survey

Niemann-Pick Disease—Type C: Ocular Histopathologic and Electron Microscopic Studies

Palmer, M., Green, W. R., Maumenee, I. H., Valle, D. L., Singer, H. S., Morton, S. J. & Moser, H. W., Jun 1985, In : Archives of ophthalmology. 103, 6, p. 817-822 6 p.

Research output: Contribution to journalArticle

Nonketotic hyperglycinemia: Studies in an atypical variant

Singer, H. S., Valle, D., Hayasaka, K. & Tada, K., Feb 1989, In : Neurology. 39, 2, p. 286-288 3 p.

Research output: Contribution to journalArticle

Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families

Minillo, R. M., Sobreira, N., De Fatima De Faria Soares, M., Jurgens, J., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D., Brunoni, D. & Perez, A. B. A., Dec 25 2014, In : Molecular Syndromology. 5, 6, p. 268-275 8 p.

Research output: Contribution to journalArticle

NVL: A new member of the AAA family of ATPases localized to the nucleus

Germain-Lee, E. L., Obie, C. & Valle, D., Aug 15 1997, In : Genomics. 44, 1, p. 22-34 13 p.

Research output: Contribution to journalArticle

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

Traboulsi, E. I., Silva, J. C., Geraghty, M. T., Maumenee, I. H., Valle, D. & Green, W. R., Jan 1 1992, In : American journal of ophthalmology. 113, 3, p. 269-280 12 p.

Research output: Contribution to journalArticle

Onlined Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Hamosh, A., Scott, A. F., Amberger, J., Bocchini, C., Valle, D. & McKusick, V. A., Jan 1 2002, In : Nucleic acids research. 30, 1, p. 52-55 4 p.

Research output: Contribution to journalArticle

Online Mendelian Inheritance in Man (OMIM)

Hamosh, A., Scott, A. F., Amberger, J., Valle, D. & McKusick, V. A., Jan 19 2000, In : Human mutation. 15, 1, p. 57-61 5 p.

Research output: Contribution to journalArticle

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm

Lafreniere, R. G., Geraghty, M. T., Valle, D., Shows, T. B. & Willard, H. F., May 1991, In : Genomics. 10, 1, p. 276-279 4 p.

Research output: Contribution to journalArticle

Ornithine δ-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences

Brody, L. C., Mitchell, G. A., Obie, C., Michaud, J., Steel, G., Fontaine, G., Robert, M. F., Sipila, I., Kaiser-Kupfer, M. & Valle, D., Jan 1 1992, In : Journal of Biological Chemistry. 267, 5, p. 3302-3307 6 p.

Research output: Contribution to journalArticle

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

Hu, C. A., Donald, S. P., Yu, J., Lin, W. W., Liu, Z., Steel, G., Obie, C., Valle, D. & Phang, J. M., Jan 1 2007, In : Molecular and Cellular Biochemistry. 295, 1-2, p. 85-92 8 p.

Research output: Contribution to journalArticle

Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21;p13) or (q21;pter)

Stamberg, J., Shapiro, J., Valle, D., Kuhajda, F. P., Thomas, G. & Wissow, L., May 15 1981, In : Clinical Genetics. 19, 2, p. 122-125 4 p.

Research output: Contribution to journalArticle

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C. M., Ongaco, C., Romm, J., Doheny, K., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T., Dec 1 2017, In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Contribution to journalArticle