Heutink, Peter

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 3,498

An atlas of active enhancers across human cell types and tissues

The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature

Genomics and Chromatin DynamicsCancer-related molecular mechanisms research

Cited by 2,550

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease

International Parkinson's Disease Genomics Consortium (IPDGC), Nalls, M. A., Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI), 23andMe, GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), Investigator, T. A. J. D., (CHARGE), C. F. H. A. A. R. I. G. E., North American Brain Expression Consortium (NABEC), et al. (2014) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 1,895

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

An atlas of human long non-coding RNAs with accurate 5′ ends

Hon, C.-C., Ramilowski, J. A., Harshbarger, J., Bertin, N., Rackham, O. J. L., Gough, J., Denisenko, E., Schmeier, S., Poulsen, T. M., Severin, J., et al. (2017) · Nature

Cancer-related molecular mechanisms researchGenomics and Chromatin Dynamics

Cited by 1,007

Somatic retrotransposition alters the genetic landscape of the human brain

Baillie, J. K., Barnett, M. W., Upton, K. R., Gerhardt, D. J., Richmond, T. A., De Sapio, F., Brennan, P. M., Rizzu, P., Smith, S., Fell, M., et al. (2011) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 684

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 603

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Gould, D. B., Phalan, F. C., van Mil, S. E., Sundberg, J. P., Vahedi, K., Massin, P., Bousser, M. G., Heutink, P., Miner, J. H., Tournier-Lasserve, E., et al. (2006) · New England Journal of Medicine

Cerebrovascular and genetic disordersIntracerebral and Subarachnoid Hemorrhage Research

Cited by 581

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 579

An integrated expression atlas of miRNAs and their promoters in human and mouse

The FANTOM Consortium, de Rie, D., Abugessaisa, I., Alam, T., Arner, E., Arner, P., Ashoor, H., Åström, G., Babina, M., Bertin, N., et al. (2017) · Nature Biotechnology

MicroRNA in disease regulationGenomics and Chromatin Dynamics

Cited by 561

DLB and PDD boundary issues: Diagnosis, treatment, molecular pathology, and biomarkers

Lippa, C. F., Duda, J. E., Grossman, M., Hurtig, H. I., Aarsland, D., Boeve, B. F., Brooks, D. J., Dickson, D. W., Dubois, B., Emre, M., et al. (2007) · Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 548

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Njajou, O. T., Vaessen, N., Joosse, M., Berghuis, B., van Dongen, J. W. F., Breuning, M. H., Snijders, P. J. L. M., Rutten, W. P. F., Sandkuijl, L. A., Oostra, B. A., et al. (2001) · Nature Genetics

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 492

Genome-wide association study of obsessive-compulsive disorder

Stewart, S. E., Yu, D., Scharf, J. M., Neale, B. M., Fagerness, J. A., Mathews, C. A., Arnold, P. D., Evans, P. D., Gamazon, E. R., Osiecki, L., et al. (2013) · Molecular Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 384

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 383

Genome-wide pleiotropy between Parkinson disease and autoimmune diseases

Witoelar, A., Jansen, I. E., Wang, Y., Desikan, R. S., Gibbs, J. R., Blauwendraat, C., Thompson, W. K., Hernandez, D. G., Djurovic, S., Schork, A. J., et al. (2017) · JAMA Neurology

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 352

FANTOM5 CAGE profiles of human and mouse samples

Noguchi, S., Arakawa, T., Fukuda, S., Furuno, M., Hasegawa, A., Hori, F., Ishikawa-Kato, S., Kaida, K., Kaiho, A., Kanamori-Katayama, M., et al. (2017) · Scientific Data

Genomics and Chromatin DynamicsGenomics and Phylogenetic Studies

Cited by 310

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

Nalls, M. A., McLean, C. Y., Rick, J., Eberly, S., Hutten, S. J., Gwinn, K., Sutherland, M., Martinez, M., Heutink, P., Williams, N. M., et al. (2015) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 204

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson’s disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Buchel, F., Sharma, M., Gibbs, J. R., et al. (2012) · Human Molecular Genetics

Genetic Associations and EpidemiologyParkinson's Disease Mechanisms and Treatments

Cited by 190

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Breedveld, G., de Coo, I. F., Lequin, M. H., Arts, W. F. M., Heutink, P., Gould, D. B., John, S. W. M., Oostra, B., & Mancini, G. M. S. (2006) · Journal of Medical Genetics

Cerebrovascular and genetic disordersNeonatal and fetal brain pathology

Cited by 180

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson’s Disease

Dijkstra, A. A., Ingrassia, A., de Menezes, R. X., van Kesteren, R. E., Rozemuller, A. J. M., Heutink, P., & van de Berg, W. D. J. (2015) · PLOS ONE

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 167

A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

Liu, F., Arias-Vásquez, A., Sleegers, K., Aulchenko, Y. S., Kayser, M., Sanchez-Juan, P., Feng, B.-J., Bertoli-Avella, A. M., van Swieten, J., Axenovich, T. I., et al. (2007) · The American Journal of Human Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 156

Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry

Obsessive-Compulsive Spectrum DisordersGenomic variations and chromosomal abnormalities

Cited by 141