Saris, Christiaan GJ, Horvath, Steve, Van Vught, Paul WJ, Van Es, Michael A, Blauw, Hylke M, Fuller, Tova F, ...
Abstract Background Amyotrophic Lateral Sclerosis (ALS) is a lethal disorder characterized by progressive degeneration of motor neurons in the brain and spinal cord. Diagnosis is mainly based on...
Common variants conferring risk of schizophrenia (2009)
Stefansson, Hreinn, Ophoff, Roel A, Steinberg, Stacy, Andreassen, Ole A, Cichon, Sven, Rujescu, Dan, ...
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Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P H, Barnes, Michael R, Toulopoulou, Timothea, ...
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Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration (2009)
Broom, Wendy J, Hansen, Valerie K, ...
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1...
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration (2009)
Simpson, Claire L., Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J., Hansen, Valerie K., ...
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1...
Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P.H., Barnes, Michael R., Toulopoulou, Timothea, ...
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and...
Large recurrent microdeletions associated with schizophrenia (2008)
Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P H, Ingason, Andres, Steinberg, Stacy, ...
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis (2008)
Blauw, Hylke M, Franke, Lude, Saris, Christiaan G J, ...
We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall...
Analysis of genome-wide copy number variation in Irish and Dutch ALS populations (2008)
Cronin, Simon, Blauw, Hylke M., Veldink, Jan H., Van Es, Michael A., Ophoff, Roel A., Bradley, Daniel G., ...
Amyotrophic lateral sclerosis (ALS) is an unrelenting neurodegenerative condition characterized by adult-onset loss of motor neurons. Genetic risk factors have been implicated in ALS susceptibility....
Van Vught, Paul W, Blauw, Hylke M, Franke, Lude, Saris, Christiaan G, Andersen, Peter M, ...
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and spinal cord. ALS is thought to be multifactorial,...
The genome-wide distribution of background linkage disequilibrium in a population isolate (2001)
Service, Susan K., Ophoff, Roel A., Freimer, Nelson B.
Recent interest in using association studies to investigate complex traits has focused attention on understanding linkage disequilibrium (LD) in the human genome. We examined the genome-wide...
Ophoff, Roel A., DeYoung, Joseph, Service, Susan K., Joosse, Marijke, Caffo, Nathan A., Sandkuijl, Lodewijk A., ...
We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are...
Guida, Serena, Trettel, Flavia, Pagnutti, Stefano, Mantuano, Elide, Tottene, Angelita, Veneziano, Liana, ...
Familial hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the α1A subunit of P/Q calcium channels), usually...
Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate
Ophoff, Roel A., Escamilla, Michael A., Service, Susan K., Spesny, Mitzi, Meshi, Dar B., Poon, Wingman, ...
Genomewide association studies may offer the best promise for genetic mapping of complex traits. Such studies in outbred populations require very densely spaced single-nucleotide polymorphisms. In...
Ophoff, Roel A., DeYoung, Joseph, Service, Susan K., Joosse, Marijke, Caffo, Nathan A., Sandkuijl, Lodewijk A., ...
We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are...
Guida, Serena, Trettel, Flavia, Pagnutti, Stefano, Mantuano, Elide, Tottene, Angelita, Veneziano, Liana, ...
Familial hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the α1A subunit of P/Q calcium channels), usually...
Accommodating Chromosome Inversions in Linkage Analysis
Chen, Gary K., Slaten, Erin, Ophoff, Roel A., Lange, Kenneth
This work develops a population-genetics model for polymorphic chromosome inversions. The model precisely describes how an inversion changes the nature of and approach to linkage equilibrium. The...
Freimer, Nelson B., Service, Susan K., Ophoff, Roel A., Jasinska, Anna J., McKee, Kevin, Villeneuve, Amelie, ...
Non-human primates (NHP) provide crucial research models. Their strong similarities to humans make them particularly valuable for understanding complex behavioral traits and brain structure and...
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
Simpson, Claire L., Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J., Hansen, Valerie K., ...
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1...
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Vrijenhoek, Terry, Buizer-Voskamp, Jacobine E., Van Der Stelt, Inge, Strengman, Eric, Sabatti, Chiara, Geurts Van Kessel, Ad, ...
Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately 1% of the general population. Most genetics studies so far have focused on disease association with common...
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
Van Der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A., Vorstman, Jacob A. S., ...
The recent identification of copy-number variation in the human genome has opened up new avenues for the discovery of positional candidate genes underlying complex genetic disorders, especially in...
Landers, John E., Melki, Judith, Meininger, Vincent, Glass, Jonathan D., Van Den Berg, Leonard H., Van Es, Michael A., ...
Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants...
Saris, Christiaan GJ, Horvath, Steve, Van Vught, Paul WJ, Van Es, Michael A, Blauw, Hylke M, Fuller, Tova F, ...
The Relationship of DNA Methylation with Age, Gender and Genotype in Twins and Healthy Controls
Boks, Marco P., Derks, Eske M., Weisenberger, Daniel J., Strengman, Erik, Janson, Esther, Sommer, Iris E., ...
Cytosine-5 methylation within CpG dinucleotides is a potentially important mechanism of epigenetic influence on human traits and disease. In addition to influences of age and gender, genetic control...