David Valle

Professor

1971 …2020

Research output per year

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Research Output

Review article

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., 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

Skeletal dysplasias: Growing therapy for growing bones

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

Research output: Contribution to journalReview article

Letter

Allopurinol-Induced Orotidinuria

Tuchman, M., Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., Nov 8 1990, In : New England Journal of Medicine. 323, 19, p. 1352-1353 2 p.

Research output: Contribution to journalLetter

Reply

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

Research output: Contribution to journalLetter

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

Conference contribution

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., Eil, C. & Levine, M. A., 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.

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

Comment/debate

2015 Victor A. McKusick Leadership Award Introduction: Charles Scriver

Valle, D., Mar 3 2016, In : American Journal of Human Genetics. 98, 3, p. 431-432 2 p.

Research output: Contribution to journalComment/debate

2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski

Valle, D., Mar 7 2019, In : American journal of human genetics. 104, 3, p. 389-390 2 p.

Research output: Contribution to journalComment/debate

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

Sobreira, N. & 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
Chapter

Apparent acetaminophen toxicity in a patient with transaldolase deficiency

Lee-Barber, J., English, T. E., Britton, J. F., Sobreira, N., Goldstein, J., Valle, D. & Bjornsson, H. T., Jan 1 2019, JIMD Reports. Springer, p. 9-15 7 p. (JIMD Reports; vol. 44).

Research output: Chapter in Book/Report/Conference proceedingChapter

Disorders of ornithine metabolism

Baumgartner, M. R. & Valle, D., Jan 1 2012, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 323-332 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Homocystinuria due to cystathionine β-synthase deficiency: Clinical manifestations and therapy

Valle, D., Pai, G. S., Thomas, G. H. & Pyeritz, R. E., 1980, Johns Hopkins Medical Journal. 3 ed. Vol. 146. p. 110-117 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mannosidosis in an adult

Montgomery, T. R., Thomas, G. H. & Valle, D., 1982, Johns Hopkins Medical Journal. 3 ed. Vol. 151. p. 113-116 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

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

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

Research output: Chapter in Book/Report/Conference proceedingChapter

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. & Pyeritz, R. E., 1979, Johns Hopkins Medical Journal. 4 ed. Vol. 145. p. 162-169 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Book

An evidence framework for genetic testing

Committee on the Evidence Base for Genetic Testing, Board on the Health of Select Populations, Board on Health Care Services, Health and Medicine Division & National Academies of Sciences, Engineering, and Medicine, Apr 21 2017, National Academies Press. 136 p.

Research output: Book/ReportBook

Article

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

2014 Victor A. McKusick Leadership Award

Valle, D., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 374-376 3 p.

Research output: Contribution to journalArticle

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, p. 164 1 p.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

Acute Hydrocephalus in Hurler’s Syndrome

Shinnar, S., Singer, H. & Valle, D., 1982, In : American Journal of Diseases of Children. 136, 6, p. 556-557 2 p.

Research output: Contribution to journalArticle

Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI

Hayflick, S., Rowe, S., Kavanaugh-McHugh, A., Olson, J. L. & Valle, D., 1992, In : Journal of Pediatrics. 120, 2 PART 1, p. 269-272 4 p.

Research output: Contribution to journalArticle

A differential hybridization scheme to identify photoreceptor-specific genes

Swanson, D. A., Freund, C. L., Steel, J. M., Xu, S., Ploder, L., McInnes, R. R. & Valle, D., May 1997, In : Genome Research. 7, 5, p. 513-521 9 p.

Research output: Contribution to journalArticle

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

Braunstein, E., Li, R., Sobreira, N., Marosy, B., Hetrick, K., Doheny, K., Gocke, C., Valle, D., Brodsky, R. A. & Cheng, L., Jul 15 2016, (Accepted/In press) In : Leukemia.

Research output: Contribution to journalArticle

A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome

Glaser, T., Driscoll, D. J., Antonarakis, S., Valle, D. & Housman, D., 1989, In : Genomics. 5, 4, p. 880-893 14 p.

Research output: Contribution to journalArticle

Allopurinol-induced orotidinuria: A test for mutations at the ornithine carbamoyltransferase locus in women

Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., Jun 7 1990, In : New England Journal of Medicine. 322, 23, p. 1641-1645 5 p.

Research output: Contribution to journalArticle

Allopurinol-induced orotidinuria (Reply)

Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., 1990, In : New England Journal of Medicine. 323, 19, p. 1353 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

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

A mouse model of gyrate atrophy of the choroid and retina: Early retinal pigment epithelium damage and progressive retinal degeneration

Wang, T., Milam, A. H., Steel, G. & Valle, D., Jun 15 1996, In : Journal of Clinical Investigation. 97, 12, p. 2753-2762 10 p.

Research output: Contribution to journalArticle

Analytical “bake-off” of whole genome sequencing quality for the genome Russia project using a small cohort for autoimmune hepatitis

Zhernakova, D. V., Kliver, S., Cherkasov, N., Tamazian, G., Rotkevich, M., Krasheninnikova, K., Evsyukov, I., Sidorov, S., Dobrynin, P., Yurchenko, A. A., Shimansky, V., Shcherbakova, I. V., Glotov, A. S., Valle, D., Tang, M., Shin, E., Schwarz, K. & O’Brien, S. J., Jul 1 2018, In : PLoS One. 13, 7, e0200423.

Research output: Contribution to journalArticle

A new complementation assay for peroxisome-deficient cell lines

FitzPatrick, D. R. & Valle, D., 1996, In : Journal of Inherited Metabolic Disease. 19, 1, p. 94-95 2 p.

Research output: Contribution to journalArticle

An initiator codon mutation in ornithine-δ-aminotransferase causing gyrate atrophy of the choroid and retina

Mitchell, G. A., Brody, L. C., Looney, J., Steel, G., Suchanek, M., Dowling, C., Der Kaloustian, V., Kaiser-Kupfer, M. & Valle, D., 1988, In : Journal of Clinical Investigation. 81, 2, p. 630-633 4 p.

Research output: Contribution to journalArticle

An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., Aug 1998, In : Human Molecular Genetics. 7, 8, p. 1195-1205 11 p.

Research output: Contribution to journalArticle

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., Demirkol, M., Waterham, H. R., Gökcay, G., Wanders, R. J. A. & Valle, D., Jan 15 2015, In : Human Molecular Genetics. 24, 2, p. 361-370 10 p., ddu448.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)

Gärtner, J., Obie, C., Moser, H. & Valle, D., Nov 1992, In : Human Molecular Genetics. 1, 8, p. 654 1 p.

Research output: Contribution to journalArticle

A polymorphic synonymous mutation in human ornithine-δ-aminotransferase (N378N)

Martin, L. S., Mitchell, G. A., Michaud, J., Brody, L. C. & Valle, D., Apr 25 1991, In : Nucleic Acids Research. 19, 8, p. 1962 1 p.

Research output: Contribution to journalArticle

A radioisotopic assay for ornithine-δ-transaminase

Phang, J. M., Downing, S. J. & Valle, D., 1973, In : Analytical Biochemistry. 55, 1, p. 272-277 6 p.

Research output: Contribution to journalArticle

A radioisotopic assay for proline oxidase activity

Phang, J. M., Downing, S. J., Valle, D. & Kowaloff, E. M., 1975, In : The Journal of Laboratory and Clinical Medicine. 85, 2, p. 312-317 6 p.

Research output: Contribution to journalArticle

A radioisotopic assay for Δ1-pyrroline-5-carboxylate reductase

Phang, J. M., Downing, S. J. & Valle, D., 1973, In : Analytical Biochemistry. 55, 1, p. 266-271 6 p.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

A screen of SLC1A1 for OCD-related alleles

Wang, Y., Adamczyk, A., Shugart, Y. Y., Samuels, J., Grados, M., Greenberg, B. D., Knowles, J. A., McCracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Pinto, A., Fyer, A. J., Piacentini, J., Pauls, D. L., Bienvenu, O. J., Riddle, M. A., Liang, K. Y., Valle, D. & 2 others, Wang, T. & Nestadt, G., Mar 2010, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 153, 2, p. 675-679 5 p.

Research output: Contribution to journalArticle

Aspartylglucosaminuria in the United States

Hreidarsson, S., Thomas, G. H., Valle, D., Stevenson, R. E., Taylor, H., McCarty, J., Coker, S. B. & Green, W. R., 1983, In : Clinical Genetics. 23, 6, p. 427-435 9 p.

Research output: Contribution to journalArticle