Valle, David

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., et al. (2009) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 8,336

The International HapMap Project

†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 6,057

The human disease network

Goh, K.-I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A.-L. (2007) · Proceedings of the National Academy of Sciences

Bioinformatics and Genomic NetworksBiomedical Text Mining and Ontologies

Cited by 3,242

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,529

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E., & Cutting, G. A. (1993) · Science

RNA Research and SplicingRNA and protein synthesis mechanisms

Cited by 417

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS

Mattheisen, M., Samuels, J. F., Wang, Y., Greenberg, B. D., Fyer, A. J., McCracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., et al. (2015) · Molecular Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 321

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 285

Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., & Gould, S. J. (1998) · Journal of Biological Chemistry

Peroxisome Proliferator-Activated ReceptorsAutophagy in Disease and Therapy

Cited by 266

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., et al. (2019) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 262

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. L., Valle, D., Rudd, M. K., Satten, G., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 223

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., et al. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Obsessive-Compulsive Spectrum DisordersGenetics and Neurodevelopmental Disorders

Cited by 207

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) · Molecular and Cellular Biology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 165

A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.

Shani, N., & Valle, D. (1996) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 157

Mutation analysis ofPEX7 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., et al. (2002) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 134

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., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.

Shani, N., Watkins, P. A., & Valle, D. (1995) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 129

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. (2012) · Bioinformatics

Bioinformatics and Genomic NetworksBiomedical Text Mining and Ontologies

Cited by 125

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., et al. (2009) · The American Journal of Human Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 83

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W., Samuels, J. F., Wang, Y., Cao, H., Ritter, M., Nestadt, P. S., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., et al. (2017) · European Neuropsychopharmacology

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 59

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., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Obsessive-Compulsive Spectrum DisordersNeurotransmitter Receptor Influence on Behavior

Cited by 47

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. (2010) · American Journal of Medical Genetics Part A

Hearing, Cochlea, Tinnitus, GeneticsMicroRNA in disease regulation

Cited by 14