David Valle

Professor

1971 …2020

Research output per year

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Research Output

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

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

Acute Hydrocephalus in Hurler’s Syndrome

Shinnar, S., Singer, H. S. & Valle, D., Jun 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., Feb 1992, In : The 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

Open Access

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., Nov 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

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

Open Access

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. L., Tang, M., Shin, E., Schwarz, K. B. & O’Brien, S. J., Jul 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., Mar 27 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., Jan 1 1988, In : Journal of Clinical Investigation. 81, 2, p. 630-633 4 p.

Research output: Contribution to journalArticle

Open Access

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

Research output: Contribution to journalArticle

A radioisotopic assay for ornithine-δ-transaminase

Phang, J. M., Downing, S. J. & Valle, D., Sep 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. L. & Kowaloff, E. M., Feb 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., Sep 1973, In : Analytical biochemistry. 55, 1, p. 266-271 6 p.

Research output: Contribution to journalArticle

A screen of SLC1A1 for OCD-related alleles

Wang, Y., Adamczyk, A., Shugart, Y. Y., Samuels, J. F., Grados, M. A., 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., Liang, K. Y., Valle, D. & 2 others, Wang, T. & Nestadt, G., Mar 1 2010, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 153, 2, p. 675-679 5 p.

Research output: Contribution to journalArticle

Aspartylglucosaminuria in the United States

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

Research output: Contribution to journalArticle

A specific enzyme defect in gyrate atrophy

Kaiser-Kupfer, M. I., Valle, D. & Del Valle, L. A., Jan 1 1978, In : American journal of ophthalmology. 85, 2, p. 200-204 5 p.

Research output: Contribution to journalArticle

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Jurgens, J., Ling, H., Hetrick, K., Pugh, E., Schiettecatte, F., Doheny, K., Hamosh, A., Avramopoulos, D., Valle, D. & Sobreira, N., Oct 1 2015, In : Genetics in Medicine. 17, 10, p. 782-788 7 p.

Research output: Contribution to journalArticle

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

Association of thyroid disease with retinitis pigmentosa and gyrate atrophy

Whitcup, S. M., Iwata, F., Podgor, M. J., Valle, D., Sran, P. K. & Kaiser-Kupfer, M. I., Jan 1 1996, In : American journal of ophthalmology. 122, 6, p. 903-905 3 p.

Research output: Contribution to journalArticle

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

You, J., Sobreira, N. L., Gable, D. L., Jurgens, J., Grange, D. K., Belnap, N., Siniard, A., Szelinger, S., Schrauwen, I., Richholt, R. F., Vallee, S. E., Dinulos, M. B. P., Valle, D., Armanios, M. & Hoover-Fong, J., May 5 2016, In : American journal of human genetics. 98, 5, p. 909-918 10 p.

Research output: Contribution to journalArticle

At least two mutant alleles of ornithine δ-aminotransferase cause gyrate atrophy of the choroid and retina in Finns

Mitchell, G. A., Brody, L. C., Sipila, I., Looney, J. E., Wong, C., Engelhardt, J. F., Patel, A. S., Steel, G., Obie, C., Kaiser-Kupfer, M. & Valle, D., Jan 1 1989, In : Proceedings of the National Academy of Sciences of the United States of America. 86, 1, p. 197-201 5 p.

Research output: Contribution to journalArticle

Open Access

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: Implications for X-linked retinal disorders

Swanson, D. A., Freund, C. L., Ploder, L., McInnes, R. R. & Valle, D., Apr 1 1996, In : Human molecular genetics. 5, 4, p. 533-538 6 p.

Research output: Contribution to journalArticle

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., Lang, A. & 13 others, Mossman, S., Mu, W., Patrikios, P., Perlman, S. L., Rosemergy, I., Storey, E., Watson, S. R. D., Wilson, M. A., Zee, D. S., Valle, D., Amor, D. J., Bahlo, M. & Lockhart, P. J., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 151-165 15 p.

Research output: Contribution to journalArticle

Open Access

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

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

Gniadek, T. J., Singer, N., Barker, N. J., Spevak, P. J., Crain, B. J., Valle, D. & Halushka, M. K., Sep 1 2015, In : Cardiovascular Pathology. 24, 5, p. 322-326 5 p., 6847.

Research output: Contribution to journalArticle

Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport

Waber, L. J., Valle, D., Neill, C., DiMauro, S. & Shug, A., Nov 1982, In : The Journal of pediatrics. 101, 5, p. 700-705 6 p.

Research output: Contribution to journalArticle

Cataplexy in variant forms of Niemann‐Pick disease

Kandt, R. S., Emerson, R. G., Singer, H. S., Valle, D. L. & Moser, H. W., Sep 1982, In : Annals of neurology. 12, 3, p. 284-288 5 p.

Research output: Contribution to journalArticle

Cataract in gyrate atrophy: Clinical and morphologic studies

Kaiser-Kupfer, M., Kuwabara, T., Uga, S., Takki, K. & Valle, D., Jul 21 1983, In : Investigative Ophthalmology and Visual Science. 24, 4, p. 432-436 5 p.

Research output: Contribution to journalArticle

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

Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter

Shani, N., Sapag, A. & Valle, D., Apr 12 1996, In : Journal of Biological Chemistry. 271, 15, p. 8725-8730 6 p.

Research output: Contribution to journalArticle

Open Access

Characterization of a cDNA library enriched for a novel peroxisomal gene

Fitzpatrick, D. R., Jimenez-Sanchez, G., Germain-Lee, E. & Valle, D., Jan 1 1996, In : Annals of the New York Academy of Sciences. 804, p. 739-741 3 p.

Research output: Contribution to journalArticle

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Sobreira, N. L. M., Gnanakkan, V., Walsh, M., Marosy, B., Wohler, E., Thomas, G., Hoover-Fong, J. E., Hamosh, A., Wheelan, S. J. & Valle, D., Oct 1 2011, In : Genome research. 21, 10, p. 1720-1727 8 p.

Research output: Contribution to journalArticle

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Stanley, C. A., DeLeeuw, S., Coates, P. M., Vianey‐Liaud, C., Divry, P., Bonnefont, JP. P., Saudubray, JM. M., Haymond, M., Trefz, F. K., Breningstall, G. N., Wappner, R. S., Byrd, D. J., Sansaricq, C., Tein, I., Grover, W., Valle, D., Rutledge, S. L. & Treem, W. R., Nov 1991, In : Annals of neurology. 30, 5, p. 709-716 8 p.

Research output: Contribution to journalArticle

Clinical and biochemical heterogeneity in gyrate atrophy

Kaiser-Kupfer, M. I., Valle, D. & Bron, A. J., Feb 1980, In : American journal of ophthalmology. 89, 2, p. 219-222 4 p.

Research output: Contribution to journalArticle

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: Studies of lysosomal storage diseases and channelopathy

Kano, S., Yuan, M., Cardarelli, R. A., Maegawa, G., Higurashi, N., Gaval-Cruz, M., Wilson, A. M., Tristan, C., Kondo, M. A., Chen, Y., Koga, M., Obie, C., Ishizuka, K., Seshadri, S., Srivastava, R., Kato, T. A., Horiuchi, Y., Sedlak, T. W., Lee, Y., Rapoport, J. L. & 6 others, Hirose, S., Okano, H., Valle, D., O’Donnell, P., Sawa, A. & Kai, M., Jan 1 2015, In : Current Molecular Medicine. 15, 2, p. 138-145 8 p.

Research output: Contribution to journalArticle

Cloning, characterization, and expression of cDNAs encoding human Δ1-Pyrroline-5-carboxylate dehydrogenase

Hu, C. A. A., Lin, W. W. & Valle, D., Apr 19 1996, In : Journal of Biological Chemistry. 271, 16, p. 9795-9800 6 p.

Research output: Contribution to journalArticle

Open Access

Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae

Dougherty, K. M., Brandriss, M. C. & Valle, D., Jan 1 1992, In : Journal of Biological Chemistry. 267, 2, p. 871-875 5 p.

Research output: Contribution to journalArticle

Cobalamin C defect associated with hemolytic-uremic syndrome

Geraghty, M. T., Perlman, E. J., Martin, L. S., Hayflick, S. J., Casella, J. F., Rosenblatt, D. S. & Valle, D., Jun 1992, In : The Journal of pediatrics. 120, 6, p. 934-937 4 p.

Research output: Contribution to journalArticle