Schork, Nicholas J.

Genome-wide association study identifies 30 loci associated with bipolar disorder

eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,519

Family income, parental education and brain structure in children and adolescents

Noble, K. G., Houston, S. M., Brito, N. H., Bartsch, H., Kan, E., Kuperman, J. M., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., et al. (2015) · Nature Neuroscience

Cognitive Abilities and TestingHealth disparities and outcomes

Cited by 1,423

Identification of ALK as a major familial neuroblastoma predisposition gene

Mossé, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., et al. (2008) · Nature

Neuroblastoma Research and TreatmentsNeurofibromatosis and Schwannoma Cases

Cited by 1,407

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,344

Gut Microbiome-Based Metagenomic Signature for Non-invasive Detection of Advanced Fibrosis in Human Nonalcoholic Fatty Liver Disease

Loomba, R., Seguritan, V., Li, W., Long, T., Klitgord, N., Bhatt, A., Dulai, P. S., Caussy, C., Bettencourt, R., Highlander, S. K., et al. (2017) · Cell Metabolism

Gut microbiota and healthLiver Disease Diagnosis and Treatment

Cited by 1,123

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Initiative, A. N. G., Watson, H. J., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Yilmaz, Z., Thornton, L. M., Hübel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., et al. (2019) · Nature Genetics

Eating Disorders and BehaviorsGenetic Associations and Epidemiology

Cited by 1,109

Human genetic variation and its contribution to complex traits

Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009) · Nature Reviews Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,073

Personalized medicine: motivation, challenges, and progress

Goetz, L. H., & Schork, N. J. (2018) · Fertility and Sterility

Pharmacogenetics and Drug MetabolismTechnology and Human Factors in Education and Health

Cited by 976

The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy

Knöll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., et al. (2002) · Cell

Cardiomyopathy and Myosin StudiesMuscle Physiology and Disorders

Cited by 786

The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?

Lillie, E. O., Patay, B., Diamant, J., Issell, B., Topol, E. J., & Schork, N. J. (2011) · Personalized Medicine

Statistical Methods in Clinical TrialsPharmaceutical studies and practices

Cited by 706

Common vs. rare allele hypotheses for complex diseases

Schork, N. J., Murray, S. S., Frazer, K. A., & Topol, E. J. (2009) · Current Opinion in Genetics & Development

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 649

Evaluation of next generation sequencing platforms for population targeted sequencing studies

Harismendy, O., Ng, P. C., Strausberg, R. L., Wang, X., Stockwell, T. B., Beeson, K. Y., Schork, N. J., Murray, S. S., Topol, E. J., Levy, S., et al. (2009) · Genome Biology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 614

Single-nucleus and single-cell transcriptomes compared in matched cortical cell types

Bakken, T. E., Hodge, R. D., Miller, J. A., Yao, Z., Nguyen, T. N., Aevermann, B., Barkan, E., Bertagnolli, D., Casper, T., Dee, N., et al. (2018) · PLoS ONE

Single-cell and spatial transcriptomicsGenomics and Phylogenetic Studies

Cited by 608

Longitudinal Magnetic Resonance Imaging Study of Cortical Development through Early Childhood in Autism

Schumann, C. M., Bloss, C. S., Barnes, C. C., Wideman, G. M., Carper, R. A., Akshoomoff, N., Pierce, K., Hagler, D., Schork, N., Lord, C., et al. (2010) · The Journal of Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 554

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

The GIANT Consortium, Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., et al. (2010) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 504

Statistical analysis strategies for association studies involving rare variants

Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 455

Using single nuclei for RNA-seq to capture the transcriptome of postmortem neurons

Krishnaswami, S. R., Grindberg, R. V., Novotny, M., Venepally, P., Lacar, B., Bhutani, K., Linker, S. B., Pham, S., Erwin, J. A., Miller, J. A., et al. (2016) · Nature Protocols

Single-cell and spatial transcriptomicsGenomics and Phylogenetic Studies

Cited by 445

Kinase mutations in human disease: interpreting genotype–phenotype relationships

Lahiry, P., Torkamani, A., Schork, N. J., & Hegele, R. A. (2010) · Nature Reviews Genetics

Genomics and Rare DiseasesProtein Kinase Regulation and GTPase Signaling

Cited by 420

Genome-wide association study of bipolar disorder in European American and African American individuals

Smith, E. N., Bloss, C. S., Badner, J. A., Barrett, T., Belmonte, P. L., Berrettini, W., Byerley, W., Coryell, W., Craig, D., Edenberg, H. J., et al. (2009) · Molecular Psychiatry

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 363

Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder

Nievergelt, C. M., Kripke, D. F., Barrett, T. B., Burg, E., Remick, R. A., Sadovnick, A. D., McElroy, S. L., Keck, P. E., Schork, N. J., & Kelsoe, J. R. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Circadian rhythm and melatoninBipolar Disorder and Treatment

Cited by 294

Transcriptomic and morphophysiological evidence for a specialized human cortical GABAergic cell type

Boldog, E., Bakken, T. E., Hodge, R. D., Novotny, M., Aevermann, B. D., Baka, J., Bordé, S., Close, J. L., Diez-Fuertes, F., Ding, S.-L., et al. (2018) · Nature Neuroscience

Neuroscience and Neuropharmacology ResearchSingle-cell and spatial transcriptomics

Cited by 291

Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology

Levy, D., Neuhausen, S. L., Hunt, S. C., Kimura, M., Hwang, S.-J., Chen, W., Bis, J. C., Fitzpatrick, A. L., Smith, E., Johnson, A. D., et al. (2010) · Proceedings of the National Academy of Sciences

Telomeres, Telomerase, and SenescenceGenetic Associations and Epidemiology

Cited by 259

Analysis of 94 Candidate Genes and 12 Endophenotypes for Schizophrenia From the Consortium on the Genetics of Schizophrenia

Greenwood, T. A., Lazzeroni, L. C., Murray, S. S., Cadenhead, K. S., Calkins, M. E., Dobie, D. J., Green, M. F., Gur, R. E., Gur, R. C., Hardiman, G., et al. (2011) · American Journal of Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 257

Hyperkinetic borderline hypertension in Tecumseh, Michigan

Julius, S., Krause, L., Schork, N. J., Mejia, A. D., Jones, K. A., van de Ven, C., Johnson, E. H., Sekkarie, M. A., Kjeldsen, S. E., Petrin, J., et al. (1991) · Journal of Hypertension

Blood Pressure and Hypertension StudiesHeart Rate Variability and Autonomic Control

Cited by 248