David Valle

Professor

1971 …2019
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Research Output 1971 2019

2013

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

Hatzimanolis, A., McGrath, J. A., Wang, R., Li, T., Wong, P. C., Nestadt, G., Wolyniec, P. S., Valle, D., Pulver, A. E. & Avramopoulos, D., 2013, In : Translational Psychiatry. 3, e264.

Research output: Contribution to journalArticle

Neuregulins
Schizophrenia
Amyloid Precursor Protein Secretases
Genes
Gene Components

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

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

Research output: Contribution to journalArticle

Genetic Databases
Exome
Pedigree
Genomics
Medicine
2012

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

Gyrate Atrophy
Ornithine
Ornithine-Oxo-Acid Transaminase
Diet
Vitamin B Complex

Homeobox genes in obsessive-compulsive disorder

Nestadt, G., Wang, Y., Grados, M., Riddle, M. A., Greenberg, B. D., Knowles, J. A., Fyer, A. J., Mccracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Piacentini, J., Geller, D., Pauls, D., Bienvenu, O. J., Chen, Y., Liang, K. Y., Goes, F. S., Maher, B. & 5 others, Pulver, A. E., Shugart, Y. Y., Valle, D., Samuels, J. & Chang, Y. C., Jan 2012, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 159 B, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

Homeobox Genes
Obsessive-Compulsive Disorder
Single Nucleotide Polymorphism
Social Adjustment
Corpus Striatum

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

Gaucher Disease
Cholestasis
Giant Cells
Hepatitis
Liver

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

Knowledge Bases
Synapse
Knowledge Base
Synapses
Ontology

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

Bamshad, M. J., Shendure, J. A., Valle, D., Hamosh, A., Lupski, J. R., Gibbs, R. A., Boerwinkle, E., Lifton, R. P., Gerstein, M., Gunel, M., Mane, S. & Nickerson, D. A., Jul 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1523-1525 3 p.

Research output: Contribution to journalArticle

Genomics
Genes
Exome
Genome
National Institutes of Health (U.S.)
2011

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

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Mejias, R., Adamczyk, A., Anggono, V., Niranjan, T., Thomas, G. M., Sharma, K., Skinner, C., Schwartz, C. E., Stevenson, R. E., Fallin, D. D., Kaufmann, W., Pletnikov, M., Valle, D., Huganir, R. L. & Wang, T., Mar 22 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 12, p. 4920-4925 6 p.

Research output: Contribution to journalArticle

Receptor-Interacting Protein Serine-Threonine Kinases
Glutamate Receptors
Recycling
Autistic Disorder
PDZ Domains

Linkage and association on 8p21.2-p21.1 in schizophrenia

Fallin, D. D., Lasseter, V. K., Liu, Y., Avramopoulos, D., McGrath, J., Wolyniec, P. S., Nestadt, G., Liang, K. Y., Chen, P. L., Valle, D. & Pulver, A. E., Mar 2011, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 156, 2, p. 188-197 10 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Schizophrenia
Pedigree
Proteomics
Psychiatry
2010

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

Detection of SNP-SNP interactions in trios of parents with schizophrenic children

Li, Q., Fallin, D. D., Louis, T., Lasseter, V. K., McGrath, J. A., Avramopoulos, D., Wolyniec, P. S., Valle, D., Liang, K. Y., Pulver, A. E. & Ruczinski, I., Jul 2010, In : Genetic Epidemiology. 34, 5, p. 396-406 11 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Schizophrenia
Parents
Genes
Gene-Environment Interaction

"genes to society"-The logic and process of the new curriculum for the Johns Hopkins University School of Medicine

Wiener, C. M., Thomas, P. A., Goodspeed, E., Valle, D. & Nichols, D. G., Mar 2010, In : Academic Medicine. 85, 3, p. 498-506 9 p.

Research output: Contribution to journalArticle

Curriculum
Medicine
medicine
curriculum
school

Making evolutionary biology a basic science for medicine

Nesse, R. M., Bergstrom, C. T., Ellison, P. T., Flier, J. S., Gluckman, P., Govindaraju, D. R., Niethammer, D., Omenn, G. S., Perlman, R. L., Schwartz, M. D., Thomas, M. G., Stearns, S. C. & Valle, D., Jan 26 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, SUPPL. 1, p. 1800-1807 8 p.

Research output: Contribution to journalArticle

Medicine
Physicians
Medical Schools
Premedical Students
Molecular Evolution

Microdeletions of 3q29 confer high risk for schizophrenia

Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N., Valle, D., Rudd, M. K., Satten, G., Cutler, D. J., Pulver, A. E. & Warren, S. T., Aug 13 2010, In : American Journal of Human Genetics. 87, 2, p. 229-236 8 p.

Research output: Contribution to journalArticle

Schizophrenia
Autistic Disorder
Intellectual Disability
Genome
Chromosome Deletion

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D. & Smith, R. J. H., Mar 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 646-652 7 p.

Research output: Contribution to journalArticle

Deafness
MicroRNAs
Hearing Loss
Mutation
Genes

Mobile interspersed repeats are major structural variants in the human genome

Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D., Civin, C. I., Wang, T., Wheelan, S., Ji, H. K., Boeke, J. D. & Burns, K., Jun 2010, In : Cell. 141, 7, p. 1171-1182 12 p.

Research output: Contribution to journalArticle

Human Genome
Genes
Polymorphism
Retroelements
Short Interspersed Nucleotide Elements

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

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

Research output: Contribution to journalArticle

methyl bromide
Neurons
Regeneration
Olfactory Mucosa
Sensory Receptor Cells

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. D., Nestadt, G., Liang, K. Y., Pulver, A. E., Valle, D. & Avramopoulos, D., Aug 2010, In : Psychiatric Genetics. 20, 4, p. 184-186 3 p.

Research output: Contribution to journalArticle

Schizophrenia
Genes
Quantitative Trait Loci
Genetic Association Studies
Psychotic Disorders

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

Proline Oxidase
Genetic Association Studies
Alleles
Haplotypes
Mutation

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

Sobreira, N., 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. A., Thomas, G., Valle, D., Hoover Fong, J. E. & Goldstein, D. B., 2010, In : PLoS Genetics. 6, 6

Research output: Contribution to journalArticle

exons
linkage (genetics)
genome
Genome
Exons
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

Exons
Chemical activation
methylcrotonoyl-CoA carboxylase
Mutation
Missense Mutation

Familiality of novel factorial dimensions of schizophrenia

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

Research output: Contribution to journalArticle

Schizophrenia
Diagnostic and Statistical Manual of Mental Disorders
Statistical Factor Analysis
Signs and Symptoms
Psychiatry

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M. & 7 others, Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., MacKay, T. F. C., McCarroll, S. A. & Visscher, P. M., Oct 8 2009, In : Nature. 461, 7265, p. 747-753 7 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Genome-Wide Association Study
Cluster Analysis
Genome
Research

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

Chen, P. L., Avramopoulos, D., Lasseter, V. K., McGrath, J. A., Fallin, D. 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

Neuregulins
Chromosome Mapping
Schizophrenia
Phenotype
Heritable Quantitative Trait

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

Hydroxocobalamin
Vitamin B 12
Methylmalonic Acid
Hyperhomocysteinemia
Homocysteine

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., 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. A., Samuels, J., Feng, G. & Nestadt, G., Jul 5 2009, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 150, 5, p. 710-720 11 p.

Research output: Contribution to journalArticle

Grooming
Obsessive-Compulsive Disorder
Nail Biting
Trichotillomania
Post-Synaptic Density
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

Gene encoding
Genomics
Proline
Single Nucleotide Polymorphism
Metabolism

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

Ornithine-Oxo-Acid Transaminase
Ornithine
delta-1-pyrroline-5-carboxylate
Cells
Hormones

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 journalArticle

Proline
Schizophrenia
Gene encoding
Metabolism
Diptera

Proline metabolism in health and disease

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

Research output: Contribution to journalArticle

Proline Oxidase
Tumor Suppressor Protein p53
Proline
Metabolism
Bacteria
2007

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

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

research and development
genetic variation
genomics

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. 1284-1288 5 p.

Research output: Contribution to journalArticle

DNA Methylation
MicroRNAs
decitabine
Cell Line
RNA Polymerase II

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

MicroRNAs
Transcriptome
Retina
Chromosomes
Circadian Rhythm

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

AMPA Receptors
HEK293 Cells
Mutation
X-Linked Mental Retardation
Comparative Genomic Hybridization

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 2007, In : Molecular and Cellular Biochemistry. 295, 1-2, p. 85-92 8 p.

Research output: Contribution to journalArticle

Proline Oxidase
Mitochondria
Proline
Apoptosis
Reactive Oxygen Species

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

Grados, M., 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 2007, In : Molecular Psychiatry. 12, 5, p. 422-423 2 p.

Research output: Contribution to journalArticle

Serotonin Plasma Membrane Transport Proteins
Obsessive-Compulsive Disorder
Genetic Predisposition to Disease
Reference Values
Cohort Studies

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., 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

Genomic Segmental Duplications
Chromosomes, Human, Pair 10
Chromosomal Instability
Comparative Genomic Hybridization
Autistic Disorder

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

Chromosomes, Human, Pair 14
Obsessive-Compulsive Disorder
Compulsive Behavior
Phenotype
Chromosomes, Human, Pair 3

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

Research output: Contribution to journalArticle

Bipolar Disorder
Chromosomes
Genes
Ionotropic Glutamate Receptors
Genetic Heterogeneity

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

Genes
Essential Genes
Neoplasm Genes
Proteins
Phenotype

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 2007, In : Genome Research. 17, 5, p. 641-648 8 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
X Chromosome
Oligonucleotide Array Sequence Analysis
Genes
Chromosomes, Human, X
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

Retinitis Pigmentosa
Intellectual Disability
X-Linked Mental Retardation
Genes
Phenotype

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., 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

Obsessive-Compulsive Disorder
Chromosomes
Genome
Inborn Genetic Diseases
Twin Studies

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

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

Research output: Contribution to journalArticle

Restrictive Cardiomyopathy
Troponin T
Extracorporeal Membrane Oxygenation
Cardiac Arrhythmias
Hemodynamics
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, p. 164 1 p.

Research output: Contribution to journalArticle

Mutation
Tandem Mass Spectrometry
Phenotype
Neonatal Screening
Genetic Association Studies

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 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

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