David Valle

Professor

1971 …2019
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Research Output 1971 2019

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

20th Century History
Tay-Sachs Disease
Inborn Errors Metabolism
Thalassemia
Medical Genetics

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

21st Century History
20th Century History
Medical Genetics

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

Mutation
Tandem Mass Spectrometry
Phenotype
Neonatal Screening
Genetic Association Studies

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

20th Century History
Medical Genetics
Curriculum
History

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

Cerebrospinal Fluid Shunts
Mucopolysaccharidosis I
X Ray Computed Tomography
Acute Disease
Preschool Children

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

Mucopolysaccharidosis VI
Cardiomyopathies
Mucopolysaccharidoses
Differential Diagnosis
Methylmalonic Acid
Liver Transplantation
Kidney Transplantation
Renal Dialysis
Transplants

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

Clone Cells
Genes
Retinal Cone Photoreceptor Cells
RNA Probes
Sciuridae

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

WAGR Syndrome
Chromosome Deletion
Chromosomes, Human, Pair 11
DNA
Catalase

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

Ornithine Carbamoyltransferase
Allopurinol
Ornithine Carbamoyltransferase Deficiency Disease
Mutation
Heterozygote

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

Allopurinol

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

Peroxisomes
Alternative Splicing
Membrane Proteins
Proteins
Mitochondria

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

Retinitis Pigmentosa
Intellectual Disability
X-Linked Mental Retardation
Genes
Phenotype

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

Gyrate Atrophy
Retinal Degeneration
Retinal Pigment Epithelium
Ornithine-Oxo-Acid Transaminase
Epithelial Cells

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

autoimmune hepatitis
Autoimmune Hepatitis
Russia
Genes
Genome
Developmental Bone Disease
Mutation
Genes
Exome
Natural History

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

Molecular Sequence Data
Peroxisomal Disorders
Genetic Complementation Test
Ganciclovir
Peroxisomes

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

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Initiator Codon
Codon
Methionine

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

Peroxisomes
Protein Isoforms
Transfection
Complementary DNA
Exons

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

Bile Acids and Salts
Peroxisomes
Liver Diseases
Fatty Acids
Phytanic Acid

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

Genomic Segmental Duplications
Alzheimer Disease
Viverridae
Genes
Alkaline Ceramidase
Adrenoleukodystrophy
ATP-Binding Cassette Transporters
Saccharomyces cerevisiae
Proteins

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

Molecular Sequence Data
Microbodies
Chromosomes, Human, Pair 1
Single-Stranded DNA
Membrane Proteins

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

Ornithine-Oxo-Acid Transaminase
Chromosomes, Human, Pair 10
Polymerase Chain Reaction
Mutation
Silent Mutation

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

Ornithine-Oxo-Acid Transaminase
Ornithine
Enzyme activity
Chromatography
Cations

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

Proline Oxidase
Assays
Ion Exchange Chromatography
Radioactivity
Chromatography

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

Pyrroline Carboxylate Reductases
Assays
Oxidoreductases
Column chromatography
Proline
Adrenoleukodystrophy
ATP-Binding Cassette Transporters
Saccharomyces cerevisiae
Peroxisomes
Proteins

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

Undergraduate Medical Education
Human Genome Project
Medical Genetics
Medical Schools
Curriculum

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

Obsessive-Compulsive Disorder
Alleles
Single Nucleotide Polymorphism
Amino Acid Transport System X-AG
Single-Stranded Conformational Polymorphism

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

Aspartylglucosaminuria
Intellectual Disability
Population
Differential Diagnosis

A specific enzyme defect in gyrate atrophy

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

Research output: Contribution to journalArticle

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Nuclear Family
Enzymes
Phytohemagglutinins

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

Exome
Incidental Findings
Genomics
Databases
Genes

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., 2001, In : Archives of Ophthalmology. 119, 5, p. 667-669 3 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Visual Field Tests
Visual Fields
Clinical Trials
Genetic Therapy

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., 1996, In : American Journal of Ophthalmology. 122, 6, p. 903-905 3 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Retinitis Pigmentosa
Thyroid Diseases
Eye Diseases

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

You, J., Sobreira, N., 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. E., Sep 22 2015, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Phosphatidylinositol 3-Kinase
Intellectual Disability
Protein Kinases
Genes
Fibroblasts

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., 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

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Alleles
Pedigree
Complementary DNA

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 1996, In : Human Molecular Genetics. 5, 4, p. 533-538 6 p.

Research output: Contribution to journalArticle

Ubiquitin Thiolesterase
X Chromosome
Retinal Diseases
Hydrolases
Ubiquitin

A unified nomenclature for peroxisome biogenesis factors

Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W. H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F. & 5 others, Tsukamoto, T., Valle, D., Van Der Klei, I., Van Veldhoven, P. P. & Veenhuis, M., Oct 1996, In : Journal of Cell Biology. 135, 1, p. 1-3 3 p.

Research output: Contribution to journalArticle

Microbodies
Peroxisomes
Fungal Proteins
Terminology
Proteins

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
Cerebellar Ataxia
Computational Biology
Genome
Alu Elements
Molecular Medicine

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

Fallin, D. 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

Bipolar Disorder
Single Nucleotide Polymorphism
Schizophrenia
Genes
Genetic Heterogeneity

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

Mucopolysaccharidosis VII
Pathology
Autopsy
Arteries
Tunica Intima

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

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

Research output: Contribution to journalArticle

Carnitine
Cardiomyopathies
Heart Diseases
Reference Values
Kidney

Cataplexy in variant forms of Niemann-Pick disease

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

Research output: Contribution to journalArticle

Niemann-Pick Diseases
Cataplexy
Protriptyline
Narcolepsy
Telemetry

Cataract in gyrate atrophy: Clinical and morphologic studies

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

Research output: Contribution to journalArticle

Gyrate Atrophy
Cataract
Sutures
Lenses
Retinal Degeneration

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

Rhizomelic Chondrodysplasia Punctata
Pathologic Constriction
Peroxisomal Disorders
Rare Diseases
Spine

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

Adrenoleukodystrophy
ATP-Binding Cassette Transporters
Proteins
Peroxisomes
Missense Mutation

Characterization of a cDNA library enriched for a novel peroxisomal gene

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

Research output: Contribution to journalArticle

Gene Library
Genes

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

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

Research output: Contribution to journalArticle

Genetic Databases
Chromosome Aberrations
Campomelic Dysplasia
Chromosomes
Cleidocranial Dysplasia