David Valle

Professor

1971 …2020

Research output per year

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Research Output

Penetrating the peroxisome

Valle, D. & Gärtner, J., Jan 1 1993, In : Nature. 361, 6414, p. 682-683 2 p.

Research output: Contribution to journalShort survey

Peroxisomal ABC transporters

Shani, N. & Valle, D., Jan 1 1998, In : Methods in enzymology. 292, p. 753-776 24 p.

Research output: Contribution to journalArticle

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

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

PEX11α is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation

Li, X., Baumgart, E., Dong, G. X., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Smith, K. D. & Gould, S. J., Dec 1 2002, In : Molecular and cellular biology. 22, 23, p. 8226-8240 15 p.

Research output: Contribution to journalArticle

PEX11β deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function

Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D. & Gould, S. J., 2002, In : Molecular and cellular biology. 22, 12, p. 4358-4365 8 p.

Research output: Contribution to journalArticle

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter

Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H. & Valle, D., Jan 15 2000, In : Genomics. 63, 2, p. 181-192 12 p.

Research output: Contribution to journalArticle

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, A., Sobreira, N., Hoover-Fong, J., Sutton, V. R., Boehm, C., Schiettecatte, F. & Valle, D., Apr 1 2013, In : Human mutation. 34, 4, p. 566-571 6 p.

Research output: Contribution to journalArticle

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

Crane, A. M., Martin, L. S., Valle, D. & Ledley, F. D., May 1 1992, In : Human genetics. 89, 3, p. 259-264 6 p.

Research output: Contribution to journalArticle

Phenotypic variability in siblings with Farber disease

Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A., Qualman, S. J. & Zinkham, W. H., Mar 1984, In : The Journal of pediatrics. 104, 3, p. 406-409 4 p.

Research output: Contribution to journalArticle

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

Hofman, K. J., Antonarakis, S. E., Missiou-Tsangaraki, S., Boehm, C. D. & Valle, D., Dec 1 1989, In : Molecular Biology and Medicine. 6, 3, p. 245-250 6 p.

Research output: Contribution to journalArticle

Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene

Hofman, K. J., Steel, G., Kazazian, H. H. & Valle, D., Apr 23 1991, In : American journal of human genetics. 48, 4, p. 791-798 8 p.

Research output: Contribution to journalArticle

PHR1, a PH domain-containing protein expressed in primary sensory neurons

Xu, S., Wang, Y., Zhao, H., Zhang, L., Xiong, W., Yau, K. W., Hiel, H., Glowatzki, E., Ryugo, D. K. & Valle, D., Oct 1 2004, In : Molecular and cellular biology. 24, 20, p. 9137-9151 15 p.

Research output: Contribution to journalArticle

PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments

Xu, S., Ladak, R., Swanson, D. A., Soltyk, A., Sun, H., Ploder, L., Vidgen, D., Duncan, A. M. V., Garami, E., Valle, D. & McInnes, R. R., Dec 10 1999, In : Journal of Biological Chemistry. 274, 50, p. 35676-35685 10 p.

Research output: Contribution to journalArticle

PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons

Tan, B., Brown, D., Xu, S. & Valle, D., May 1 2010, In : Laryngoscope. 120, 5, p. 1002-1010 9 p.

Research output: Contribution to journalArticle

Planning the Genome Institute's future [1] (multiple letters)

Uhlmann, W. R., Bennett, R., Botkin, J. R., Botstein, D., Boughman, J. A., Chakravarti, A., Clayton, E. W., Kahn, J., Koenig, B., Murray, T. H., Olson, M. V., Rowley, J., Terry, S., Valle, D. & Pennisi, E., Mar 7 2003, In : Science. 299, 5612, 1 p.

Research output: Contribution to journalLetter

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W., Samuels, J. F., Wang, Y., Cao, H., Ritter, M., Nestadt, P. S., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., Riddle, M. A., Rasmussen, S. A., McLaughlin, N. C., Nurmi, E. L., Askland, K. D., Cullen, B. A. & 12 others, Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G. & Shugart, Y. Y., Jul 2017, In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Contribution to journalArticle

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

Production and characterization of a mouse model of gyrate atrophy of the choroid and retina

Wang, T., Milam, A. H., Lawler, A., Steel, G. & Valle, D., Feb 15 1996, In : Investigative Ophthalmology and Visual Science. 37, 3, p. S1044

Research output: Contribution to journalArticle

Proline biosynthesis: Multiple defects in Chinese hamster ovary cells

Valle, D., Downing, S. J., Harris, S. C. & Phang, J. M., Aug 21 1973, In : Biochemical and Biophysical Research Communications. 53, 4, p. 1130-1136 7 p.

Research output: Contribution to journalArticle

Proline biosynthesis and degradation in mammalian cells and tissue

Phang, J. M., Valle, D. & Kowaloff, E. M., Dec 1 1975, In : Annals of Clinical and Laboratory Science. 5, 4, p. 298-302 5 p.

Research output: Contribution to journalArticle

Proline inhibition of pyrroline-5-carboxylate reductase: Differences in enzymes obtained from animal and tissue culture sources

Valle, D., Downing, S. J. & Phang, J. M., Oct 15 1973, In : Biochemical and Biophysical Research Communications. 54, 4, p. 1418-1424 7 p.

Research output: Contribution to journalArticle

Proline metabolism in health and disease

Hu, C. A. A., Phang, J. M. & Valle, D., Nov 1 2008, In : Amino Acids. 35, 4, p. 651-652 2 p.

Research output: Contribution to journalEditorial

Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species

Donald, S. P., Sun, X. Y., Hu, C. A. A., Yu, J., Mei, J. M., Valle, D. & Phang, J. M., Mar 1 2001, In : Cancer Research. 61, 5, p. 1810-1815 6 p.

Research output: Contribution to journalArticle

Proline oxidase in cultured mammalian cells

Downing, S. J., Phang, J. M., Kowaloff, E. M., Valle, D. & Smith, R. J., Jun 1977, In : Journal of Cellular Physiology. 91, 3, p. 369-376 8 p.

Research output: Contribution to journalArticle

Puromycin effect on amino acid transport: differential rates of carrier protein turnover

Phang, J. M., Valle, D. L., Fisher, L. & Granger, A., Jan 1 1975, In : American Journal of Physiology. 228, 1, p. 23-26 4 p.

Research output: Contribution to journalArticle

Pyridoxine-responsive gyrate atrophy of the choroid and retina: Clinical and biochemical correlates of the mutation A226V

Michaud, J., Thompson, G. N., Brody, L. C., Steel, G., Obie, C., Fontaine, G., Schappert, K., Keith, C. G., Valle, D. & Mitchell, G. A., Jan 1 1995, In : American journal of human genetics. 56, 3, p. 616-622 7 p.

Research output: Contribution to journalArticle

Rare plus common SERT variants in obsessive-compulsive disorder [3]

Grados, M. A., Samuels, J., Shugart, Y. Y., Willour, V. L., Wang, Y., Cullen, B., Bienvenu, O. J., Hoehn-Saric, R., Valle, D., Liang, K. Y., Riddle, M. A., Wendland, J. R., Murphy, D. L., Nestadt, G. & Detera-Wadleigh, S., May 1 2007, In : Molecular psychiatry. 12, 5, p. 422-423 2 p.

Research output: Contribution to journalLetter

Recommendations for a nomenclature system for human gene mutations

Antonarakis, S. E., Ashburner, M., Auerbach, A. D., Beaudet, A. L., Beckmann, J. S., Beutler, E., Cooper, D. N., Cotton, R. G. H., Den Dunnen, J. T., Desnick, R. J., Eng, C., Fasman, K. H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian, H. H., Keen, J., King, M. C., Lehvaslaiho, H., McAlpine, P. J. & 11 others, McKusick, V., Motulski, A. G., Povey, S., Schorderet, D. F., Scriver, C. R., Shows, T. B., Supertifurga, A., Tay, A. H. N., Tsui, L. C., Valle, D. & Vihinen, M., Jan 1 1998, In : Human mutation. 11, 1, p. 1-3 3 p.

Research output: Contribution to journalArticle

Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities

Balciuniene, J., Feng, N., Iyadurai, K., Hirsch, B., Charnas, L., Bill, B. R., Easterday, M. C., Staaf, J., Oseth, L. A., Czapansky-Beilman, D., Avramopoulos, D., Thomas, G. H., Borg, Å., Valle, D., Schimmenti, L. A. & Selleck, S. B., May 2007, In : American journal of human genetics. 80, 5, p. 938-947 10 p.

Research output: Contribution to journalArticle

Regulation of proline biosynthesis: The inhibition of pyrroline-5-carboxylate synthase activity by ornithine

Lodato, R. F., Smith, R. J., Valle, D., Phang, J. M. & Aoki, T. T., Sep 1981, In : Metabolism. 30, 9, p. 908-913 6 p.

Research output: Contribution to journalArticle

Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women

Liu, Y., Chen, P. L., McGrath, J., Wolyniec, P., Fallin, D., Nestadt, G., Liang, K. Y., Pulver, A., Valle, D. & Avramopoulos, D., Aug 1 2010, In : Psychiatric genetics. 20, 4, p. 184-186 3 p.

Research output: Contribution to journalArticle

Replication study supports evidence for linkage to 9p24 in obsessive-compulsive disorder

Willour, V. L., Shugart, Y. Y., Samuels, J., Grados, M., Cullen, B., Bienvenu, O. J., Wang, Y., Liang, K. Y., Valle, D., Hoehn-Saric, R., Riddle, M. & Nestadt, G., Sep 2004, In : American journal of human genetics. 75, 3, p. 508-513 6 p.

Research output: Contribution to journalArticle

Reply

Hamosh, A., Valle, D. & Johnston, M. V., 1993, In : Journal of Pediatrics. 122, 2, p. 325 1 p.

Research output: Contribution to journalLetter

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

Gärtner, J., Brosius, U., Obie, C., Watkins, P. A. & Valle, D., Jan 1 1998, In : European journal of cell biology. 76, 4, p. 237-245 9 p.

Research output: Contribution to journalArticle

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Baylor-Hopkins Center for Mendelian Genomics & MIBAVA Leducq Consortium, Jan 1 2019, In : Nature genetics. 51, 1, p. 42-50 9 p.

Research output: Contribution to journalLetter

Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study

Bienvenu, O. J., Wang, Y., Shugart, Y. Y., Welch, J. M., Grados, M. A., Fyer, A. J., Rauch, S. L., McCracken, J. T., Rasmussen, S. A., Murphy, D. L., Cullen, B., Valle, D., Hoehn-Saric, R., Greenberg, B. D., Pinto, A., Knowles, J. A., Piacentini, J., Pauls, D. L., Liang, K. Y., Willour, V. L. & 4 others, Riddle, M., Samuels, J. F., Feng, G. & Nestadt, G., Jul 5 2009, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 150, 5, p. 710-720 11 p.

Research output: Contribution to journalArticle

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Migliavacca, M. P., Sobreira, N. L. M., Antonialli, G. P. M., Oliveira, M. M., Melaragno, M. I. S. A., Casteels, I., de Ravel, T., Brunoni, D., Valle, D. & Perez, A. B. A., May 2014, In : American Journal of Medical Genetics, Part A. 164, 5, p. 1170-1174 5 p.

Research output: Contribution to journalArticle

Screening for lethal genetic disease.

Brusilow, S. W., Valle, D. L., Batshaw, M. L. & Waber, L. J., Oct 1 1982, In : Pediatrics. 70, 4, p. 647-648 2 p.

Research output: Contribution to journalArticle

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

Migeon, B. R., Axelman, J., De Beur, S. J., Valle, D., Mitchell, G. A. & Rosenbaum, K. N., Jan 1 1989, In : American journal of human genetics. 44, 1, p. 100-106 7 p.

Research output: Contribution to journalArticle

Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: Results from the OCD collaborative genetics study

Samuels, J., Yin, Y. S., Grados, M. A., Willour, V. L., Bienvenu, O. J., Greenberg, B. D., Knowles, J. A., McCracken, J. T., Rauch, S. L., Murphy, D. L., Wang, Y., Pinto, A., Fyer, A. J., Piacentini, J., Pauls, D. L., Cullen, B., Rasmussen, S. A., Hoehn-Saric, R., Valle, D., Liang, K. Y. & 2 others, Riddle, M. A. & Nestadt, G., Mar 2007, In : American Journal of Psychiatry. 164, 3, p. 493-499 7 p.

Research output: Contribution to journalArticle

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

Splice-mediated insertion of an Alu sequence inactivates ornithine aminotransferase: A role for Alu elements in human mutation

Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, E. P., Lyonne, S., Brody, L. C., Steel, G., Obie, C. & Valle, D., Jan 1 1991, In : Proceedings of the National Academy of Sciences of the United States of America. 88, 3, p. 815-819 5 p.

Research output: Contribution to journalArticle

Open Access

Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene

Avramopoulos, D., Lasseter, V. K., Fallin, M. D., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D. & Pulver, A. E., Nov 1 2007, In : Genetics in Medicine. 9, 11, p. 745-751 7 p.

Research output: Contribution to journalArticle

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

Michaud, J., Brody, L. C., Steel, G., Fontaine, G., Martin, L. S., Valle, D. & Mitchell, G., Jun 1992, In : Genomics. 13, 2, p. 389-394 6 p.

Research output: Contribution to journalArticle

SynaptomeDB: An ontology-based knowledgebase for synaptic genes

Pirooznia, M., Wang, T., Avramopoulos, D., Valle, D., Thomas, G., Huganir, R. L., Goes, F. S., Potash, J. B. & Zandi, P. P., Mar 2012, In : Bioinformatics. 28, 6, p. 897-899 3 p., bts040.

Research output: Contribution to journalArticle

Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8

Pai, G. S., Thomas, G. H., Leonard, C. O., Ward, J. C., Valle, D. L. & Pyeritz, R. E., Dec 1 1979, In : Johns Hopkins Medical Journal. 145, 4, p. 162-169 8 p.

Research output: Contribution to journalArticle