Strom, Tim M.

Genomewide Association Analysis of Coronary Artery Disease

Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,044

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

Binder, E. B., Salyakina, D., Lichtner, P., Wochnik, G. M., Ising, M., Pütz, B., Papiol, S., Seaman, S., Lucae, S., Kohli, M. A., et al. (2004) · Nature Genetics

Stress Responses and CortisolGenetic Associations and Epidemiology

Cited by 977

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Zanaria, E., Muscatelli, F., Bardoni, B., Strom, T. M., Guioli, S., Guo, W., Lalli, E., Moser, C., Walker, A. P., McCabe, E. R. B., et al. (1994) · Nature

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 858

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 786

Genome-wide, large-scale production of mutant mice by ENU mutagenesis

de Angelis, M. H., Flaswinkel, H., Fuchs, H., Rathkolb, B., Soewarto, D., Marschall, S., Heffner, S., Pargent, W., Wuensch, K., Jung, M., et al. (2000) · Nature Genetics

Plant Genetic and Mutation StudiesCarcinogens and Genotoxicity Assessment

Cited by 664

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Beuschlein, F., Boulkroun, S., Osswald, A., Wieland, T., Nielsen, H. N., Lichtenauer, U. D., Penton, D., Schack, V. R., Amar, L., Fischer, E., et al. (2013) · Nature Genetics

Hormonal Regulation and HypertensionAdrenal and Paraganglionic Tumors

Cited by 577

Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome

Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 443

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma

Fernandes-Rosa, F. L., Williams, T. A., Riester, A., Steichen, O., Beuschlein, F., Boulkroun, S., Strom, T. M., Monticone, S., Amar, L., Meatchi, T., et al. (2014) · Hypertension

Hormonal Regulation and HypertensionAdrenal and Paraganglionic Tumors

Cited by 310

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 304

Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair

Schiller, H. B., Fernandez, I. E., Burgstaller, G., Schaab, C., Scheltema, R. A., Schwarzmayr, T., Strom, T. M., Eickelberg, O., & Mann, M. (2015) · Molecular Systems Biology

Interstitial Lung Diseases and Idiopathic Pulmonary FibrosisAdvanced Proteomics Techniques and Applications

Cited by 261

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

Qanbari, S., Pausch, H., Jansen, S., Somel, M., Strom, T. M., Fries, R., Nielsen, R., & Simianer, H. (2014) · PLoS Genetics

Genetic and phenotypic traits in livestockGenetic Mapping and Diversity in Plants and Animals

Cited by 233

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Guelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 143

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., et al. (2010) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., et al. (2016) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation

Ronchi, C. L., Di Dalmazi, G., Faillot, S., Sbiera, S., Assié, G., Weigand, I., Calebiro, D., Schwarzmayr, T., Appenzeller, S., Rubin, B., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 93

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 80

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro-Miró, M., Littink, K. W., Arimadyo, K., Azam, M., Yazar, V., Zonneveld, M. N., Paun, C. C., et al. (2011) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 79