David Valle

Professor

1971 …2020

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2010

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

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

Type I hyperprolinemia: Genotype/phenotype correlations

Guilmatre, A., Legallic, S., Steel, G., Willis, A., Di Rosa, G., Goldenberg, A., Drouin-Garraud, V., Guet, A., Mignot, C., Des Portes, V., Valayannopoulos, V., Van Maldergem, L., Hoffman, J. D., Izzi, C., Espil-Taris, C., Orcesi, S., Bonafé, L., Le Galloudec, E., Maurey, H., Ioos, C. & 7 others, Afenjar, A., Blanchet, P., Echenne, B., Roubertie, A., Frebourg, T., Valle, D. & Campion, D., Aug 2010, In : Human mutation. 31, 8, p. 961-965 5 p.

Research output: Contribution to journalArticle

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E. & Goldstein, D. B., Jun 2010, In : PLoS genetics. 6, 6, p. 1-6 6 p.

Research output: Contribution to journalArticle

2009

Cryptic exon activation by disruption of exon splice enhancer. Novel mechanism causing 3-methyl crotonyl-CoA carboxylase deficiency

Stucki, M., Suormala, T., Fowler, B., Valle, D. & Baumgartner, M. R., Oct 16 2009, In : Journal of Biological Chemistry. 284, 42, p. 28953-28957 5 p.

Research output: Contribution to journalArticle

Familiality of novel factorial dimensions of schizophrenia

McGrath, J. A., Avramopoulos, D., Lasseter, V. K., Wolyniec, P. S., Fallin, M. D., Liang, K. Y., Nestadt, G., Thornquist, M. H., Luke, J. R., Chen, P. L., Valle, D. & Pulver, A. E., Jun 1 2009, In : Archives of general psychiatry. 66, 6, p. 591-600 10 p.

Research output: Contribution to journalArticle

Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia

Chen, P. L., Avramopoulos, D., Lasseter, V. K., McGrath, J. A., Fallin, M. D., Liang, K. Y., Nestadt, G., Feng, N., Steel, G., Cutting, A. S., Wolyniec, P., Pulver, A. E. & Valle, D., Jan 9 2009, In : American journal of human genetics. 84, 1, p. 21-34 14 p.

Research output: Contribution to journalArticle

Hydroxocobalamin dose escalation improves metabolic control in cblC

Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A. & Venditti, C. P., Dec 2009, In : Journal of Inherited Metabolic Disease. 32, 6, p. 728-731 4 p.

Research output: Contribution to journalArticle

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

2008

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

Hu, C. A. A., Bart Williams, D., Zhaorigetu, S., Khalil, S., Wan, G. & Valle, D., Nov 2008, In : Amino Acids. 35, 4, p. 655-664 10 p.

Research output: Contribution to journalArticle

Human Δ1-pyrroline-5-carboxylate synthase: Function and regulation

Hu, C. A. A., Khalil, S., Zhaorigetu, S., Liu, Z., Tyler, M., Wan, G. & Valle, D., Nov 2008, In : Amino Acids. 35, 4, p. 665-672 8 p.

Research output: Contribution to journalArticle

2007

A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease

Avramopoulos, D., Wang, R., Valle, D., Fallin, M. D. & Bassett, S. S., Apr 1 2007, In : Neurogenetics. 8, 2, p. 111-120 10 p.

Research output: Contribution to journalArticle

Completing the map of human genetic variation

Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L. D., Carter, N. P., Church, D. M., Felsenfeld, A., Guyer, M., Lee, C., Lupski, J. R., Mullikin, J. C., Pritchard, J. K., Sebat, J., Sherry, S. T., Smith, D., Valle, D. & Waterston, R. H., May 10 2007, In : Nature. 447, 7141, p. 161-165 5 p.

Research output: Contribution to journalArticle

DNA methylation regulates microRNA expression

Han, L., Witmer, P. D., Casey, E., Valle, D. & Sukumar, S., Aug 2007, In : Cancer Biology and Therapy. 6, 8, p. 1290-1294 5 p.

Research output: Contribution to journalArticle

Open Access

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

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

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

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

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

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

The human disease network

Goh, K. I., Cusick, M. E., Valle, D., Childs, B., Vidal, M. & Barabási, A. L., May 22 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 21, p. 8685-8690 6 p.

Research output: Contribution to journalArticle

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

Zhang, L., Jie, C., Obie, C., Abidi, F., Schwartz, C. E., Stevenson, R. E., Valle, D. & Wang, T., May 1 2007, In : Genome research. 17, 5, p. 641-648 8 p.

Research output: Contribution to journalArticle

2006

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred

Zhang, L., Wang, T., Wright, A. F., Suri, M., Schwartz, C. E., Stevenson, R. E. & Valle, D., Feb 15 2006, In : American Journal of Medical Genetics. 140 A, 4, p. 349-357 9 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for obsessive-compulsive disorder: Evidence for susceptibility loci on chromosomes 3q, 7p, 1q, 15q, and 6q

Shugart, Y. Y., Samuels, J., Willour, V. L., Grados, M. A., 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., Page, J., Rasmussen, S. A., Bienvenu, O. J., Hoehn-Saric, R., Valle, D. & 3 others, Liang, K. Y., Riddle, M. A. & Nestadt, G., Aug 16 2006, In : Molecular psychiatry. 11, 8, p. 763-770 8 p.

Research output: Contribution to journalArticle

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E., Valle, D. & Loeys, B. L., May 1 2006, In : Pediatrics. 117, 5, p. 1830-1833 4 p.

Research output: Contribution to journalArticle

2005

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Dantas, M. F., Suormala, T., Randolph, A., Coelho, D., Fowler, B., Valle, D. & Baumgartner, M. R., Aug 2005, In : Human mutation. 26, 2, 1 p.

Research output: Contribution to journalArticle

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis

Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J. & Valle, D., Jun 2005, In : American journal of human genetics. 76, 6, p. 987-1007 21 p.

Research output: Contribution to journalArticle

Bipolar I disorder and schizophrenia: A 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios

Fallin, M. D., Lasseter, V. K., Avramopoulos, D., Nicodemus, K. K., Wolyniec, P. S., McGrath, J. A., Steel, G., Nestadt, G., Liang, K. Y., Huganir, R. L., Valle, D. & Pulver, A. E., Dec 2005, In : American journal of human genetics. 77, 6, p. 918-936 19 p.

Research output: Contribution to journalArticle

Functional consequences of PRODH missense mutations

Bender, H. U., Almashanu, S., Steel, G., Hu, C. A., Lin, W. W., Willis, A., Pulver, A. & Valle, D., Mar 2005, In : American journal of human genetics. 76, 3, p. 409-420 12 p.

Research output: Contribution to journalArticle

Δ1-pyrroline-5-carboxylate synthase deficiency: Neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Baumgartner, M. R., Rabier, D., Nassogne, M. C., Dufier, J. L., Padovani, J. P., Kamoun, P., Valle, D. & Saudubray, J. M., Jan 1 2005, In : European Journal of Pediatrics. 164, 1, p. 31-36 6 p.

Research output: Contribution to journalArticle

2004

Genetics, Individually, and Medicine in the 21st Century

Valle, D., Mar 2004, In : American journal of human genetics. 74, 3, p. 374-381 8 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families

Fallin, M. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Aug 2004, In : American journal of human genetics. 75, 2, p. 204-219 16 p.

Research output: Contribution to journalArticle

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

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 2004, In : Molecular and cellular biology. 24, 20, p. 9137-9151 15 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

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy

Kaiser-Kupfer, M. I., Caruso, R. C., Valle, D. & Reed, G. F., Jul 1 2004, In : Archives of ophthalmology. 122, 7, p. 982-984 3 p.

Research output: Contribution to journalArticle

2003

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22

Fallin, M. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Sep 1 2003, In : American journal of human genetics. 73, 3, p. 601-611 11 p.

Research output: Contribution to journalArticle

The international HapMap project

Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., 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., Zeng, C., Zhang, Q., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R. & 124 others, Montpetit, A., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Duan, S., Lind, D. L., Miller, R. D., Rice, J., Saccone, N. L., Taillon-Miller, P., Xiao, M., Sekine, A., Sorimachi, K., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Hunt, S., Powell, D., Zhang, H., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Rotimi, C., Adebamowo, C. A., Aniagwu, T., Marshall, P. A., Matthew, O., Nkwodimmah, C., Royal, C. D. M., Leppert, M. F., Dixon, M., Cunningham, F., Kanani, A., Thorisson, G. A., Chen, P. E., Cutler, D. J., Kashuk, C. S., Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., Cardon, L. R., Morris, A., Weir, B. S., Mullikin, J. C., Feolo, M., Daly, M. J., Qiu, R., Kent, A., Dunston, G. M., Kato, K., Niikawa, N., Watkin, J., Gibbs, R. A., Sodergren, E., Weinstock, G. M., Wilson, R. K., Fulton, L. L., Rogers, J., Birren, B. W., Han, H., Wang, H., Godbout, M., Wallenburg, J. C., L'Archevêque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Collins, F. S., Brooks, L. D., McEwen, J. E., 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., Valle, D. L., Clayton, E. W., Jorde, L. B., Chakravarti, A., Cho, M. K., Duster, T., Foster, M. W., Jasperse, M., Knoppers, B. M., Kwok, P. Y., Licinio, J., Long, J. C., Ossorio, P., Wang, V. O., Rotimi, C. N., Spallone, P., Terry, S. F., Lander, E. S., Lai, E. H., Nickerson, D. A., Abecasis, G. R., Altshuler, D., Boehnke, M., Deloukas, P., Douglas, J. A., Gabriel, S. B., Hudson, R. R., Hudson, T. J., Kruglyak, L., Nakamura, Y., Nussbaum, R. L., Schaffner, S. F., Sherry, S. T., Stein, L. D. & Tanaka, T., Dec 18 2003, In : Nature. 426, 6968, p. 789-796 8 p.

Research output: Contribution to journalArticle

2002

2001 ASHG Award for Excellence in Education. Introductory speech for Charles Scriver.

Valle, D., Feb 2002, In : American journal of human genetics. 70, 2, p. 314-316 3 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Further experience with long-term reduction of ornithine levels in children

Kaiser-Kupfer, M. I., Caruso, R. C. & Valle, D., Jan 1 2002, In : Archives of ophthalmology. 120, 2, p. 146-153 8 p.

Research output: Contribution to journalArticle

Open Access

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

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

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

2001

Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement

Caruso, R. C., Nussenblatt, R. B., Csaky, K. G., Valle, D. & Kaiser-Kupfer, M. I., Jan 1 2001, In : Archives of ophthalmology. 119, 5, p. 667-669 3 p.

Research output: Contribution to journalArticle

Open Access

Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

Khanna, A. J., Braverman, N. E., Valle, D. & Sponseller, P. D., Feb 15 2001, In : American journal of medical genetics. 99, 1, p. 63-66 4 p.

Research output: Contribution to journalArticle

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

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Baumgartner, M. R., Almashanu, S., Suormala, T., Obie, C., Cole, R. N., Packman, S., Baumgartner, E. R. & Valle, D., 2001, In : Journal of Clinical Investigation. 107, 4, p. 495-504 10 p.

Research output: Contribution to journalArticle

Open Access
2000

Genetics, biology and disease

Childs, B. & Valle, D., Dec 1 2000, In : Annual Review of Genomics and Human Genetics. 1, 2000, p. 1-19 19 p.

Research output: Contribution to journalArticle