Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

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A haplotype map of the human genome

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A second generation human haplotype map of over 3.1 million SNPs

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Evolutionary Rate at the Molecular Level

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Etiopathogenesis of equinovarus foot malformations

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Inferring causality and functional significance of human coding DNA variants

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Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans

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Population genetics of rare variants and complex diseases

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Identifying Crohn’s disease signal from variome analysis

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Demes: a standard format for demographic models

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Ancient Origins of Vertebrate-Specific Innate Antiviral Immunity

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Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

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An overview on forensic analysis devoted to analytical chemists

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Population- and individual-specific regulatory variation in Sardinia

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Autism-associated missense genetic variants impact locomotion and neurodevelopment inCaenorhabditis elegans

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Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations

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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

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Prioritizing causal disease genes using unbiased genomic features

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The genetic predisposition to bronchopulmonary dysplasia

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An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

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Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry

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Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs

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Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum

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Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?

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Incidental Findings from Clinical Genome‐Wide Sequencing: A Review

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Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole‐Exome Sequencing

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Dual origin of relapses in retinoic-acid resistant acute promyelocytic leukemia

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Next-generation sequencing in drug development: target identification and genetically stratified clinical trials

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Disorders of thyroid morphogenesis

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes

Wang, M., Banik, I., Shain, A. H., Yeh, I., & Bastian, B. C. (2022) · Genome Medicine · doi:10.1186/s13073-022-01068-0 · Cited by 45

Identification and antiviral activity of common polymorphisms in the APOBEC3 locus in human populations

Duggal, N. K., Fu, W., Akey, J. M., & Emerman, M. (2013) · Virology · doi:10.1016/j.virol.2013.05.016 · Cited by 45

Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure

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Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

Sáez, M., Fernández‐Rodríguez, J., Moutinho, C., Sanchez-Mut, J. V., Gómez, A., Vidal, E., Petazzi, P., Szczęsna, K., López-Serra, P., Lucariello, M., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.100 · Cited by 46

Epidemiology of cardiovascular disease: recent novel outlooks on risk factors and clinical approaches

Niiranen, T., & Vasan, R. S. (2016) · Expert Review of Cardiovascular Therapy · doi:10.1080/14779072.2016.1176528 · Cited by 49

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndromePreprint

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Integration of biological networks and pathways with genetic association studies

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Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation

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Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort

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Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

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Population genetics and GWAS: A primer

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Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

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RAG2’s Acidic Hinge Restricts Repair-Pathway Choice and Promotes Genomic Stability

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Whole-exome sequencing of a pedigree segregating asthma

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Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

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Association of exome sequences with plasma C-reactive protein levels in >9000 participants

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Novel bioinformatic developments for exome sequencing

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Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

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Molecular modeling in the age of clinical genomics, the enterprise of the next generation

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Nonparametric coalescent inference of mutation spectrum history and demography

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Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase

Väliaho, J., Faisal, I., Ortutay, C., Smith, C. I. E., & Vihinen, M. (2015) · Human Mutation · doi:10.1002/humu.22791 · Cited by 43

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

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A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression

Dodd, A. W., Syddall, C. M., & Loughlin, J. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.197 · Cited by 43

The canid genome: behavioral geneticists' best friend?

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Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition

Vrieze, S. I., Feng, S., Miller, M. B., Hicks, B. M., Pankratz, N., Abecasis, G. R., Iacono, W. G., & McGue, M. K. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.08.027 · Cited by 44

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

Robinson, P. C., Leo, P. J., Pointon, J. J., Harris, J., Cremin, K., Bradbury, L. A., Donnelly, P., Barroso, I., Blackwell, J. M., Bramon, E., et al. (2015) · Genes and Immunity · doi:10.1038/gene.2015.49 · Cited by 43

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

Kohli, M. A., Cukier, H. N., Hamilton‐Nelson, K. L., Rolati, S., Kunkle, B. W., Whitehead, P. L., Zuchner, S. L., Farrer, L. A., Martin, E. R., Beecham, G. W., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000041 · Cited by 41

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans

Schneider, B. P., Lai, D., Shen, F., Jiang, G., Radovich, M., Li, L., Gardner, L., Miller, K. D., O’Neill, A., Sparano, J. A., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.12545 · Cited by 43

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

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Excess congenital non-synonymous variation in leukemia-associated genes in MLL− infant leukemia: a Children’s Oncology Group report

Valentine, M. C., Linabery, A. M., Chasnoff, S. E., Hughes, A. E. O., Mallaney, C., Sanchez, N., Giacalone, J., Heerema, N. A., Hilden, J. M., Spector, L. G., et al. (2013) · Leukemia · doi:10.1038/leu.2013.367 · Cited by 44

Developments in our understanding of the genetic basis of birth defects

Webber, D. M., MacLeod, S. L., Bamshad, M. J., Shaw, G. M., Finnell, R. H., Shete, S. S., Witte, J. S., Erickson, S. W., Murphy, L. D., & Hobbs, C. A. (2015) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23385 · Cited by 44

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

van Engelen, K., Mommersteeg, M. T. M., Baars, M. J. H., Lam, J., Ilgun, A., van Trotsenburg, A. S. P., Smets, A. M. J. B., Christoffels, V. M., Mulder, B. J. M., & Postma, A. V. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052685 · Cited by 42

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

Schrodi, S. J., DeBarber, A. E., He, M. M., Ye, Z., Peissig, P. L., Wormer, J. J. V., Haws, R. M., Brilliant, M. H., & Steiner, R. D. (2015) · Human Genetics · doi:10.1007/s00439-015-1551-8 · Cited by 42

Evolutionary shaping of demographic schedules

Wachter, K. W., Steinsaltz, D., & Evans, S. N. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1400841111 · Cited by 36

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

Evans, D. S., Avery, C. L., Nalls, M. A., Guo, L., Barnard, J., Smith, E. N., Tanaka, T., Butler, A. M., Buxbaum, S. G., Alonso, Á., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw284 · Cited by 41

High‐Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic‐Driven Medicine

Ipe, J., Swart, M., Burgess, K., & Skaar, T. C. (2017) · Clinical and Translational Science · doi:10.1111/cts.12440 · Cited by 43

Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori

Hakkaart, C., Ellison‐Loschmann, L., Day, R. C., Sporle, A. A., Koea, J., Harawira, P., Cheng, S., Gray, M. J., Whaanga, T., Pearce, N. E., et al. (2018) · Familial Cancer · doi:10.1007/s10689-018-0080-8 · Cited by 42

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Kamphans, T., Sabri, P., Zhu, N., Heinrich, V., Mundlos, S., Robinson, P. N., Parkhomchuk, D., & Krawitz, P. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0070151 · Cited by 42

On the genes, genealogies, and geographies of Quebec

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Loss of transient receptor potential channel 5 causes obesity and postpartum depression

Li, Y., Cacciottolo, T. M., Yin, N., He, Y., Liu, H., Liu, H., Yang, Y., Henning, E., Keogh, J. M., Lawler, K., et al. (2024) · Cell · doi:10.1016/j.cell.2024.06.001 · Cited by 42

Transition Densities and Sample Frequency Spectra of Diffusion Processes with Selection and Variable Population Size

Živković, D., Steinrücken, M., Song, Y. S., & Stephan, W. (2015) · Genetics · doi:10.1534/genetics.115.175265 · Cited by 41

Genetic testing in cardiovascular medicine

Sturm, A. C., & Hershberger, R. E. (2013) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e32835fb728 · Cited by 42

Challenges in Medical Applications of Whole Exome/Genome Sequencing Discoveries

Marian, A. J. (2012) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2012.08.001 · Cited by 42

Rare-Variant Genome-Wide Association Studies: A New Frontier in Genetic Analysis of Complex Traits

Wagner, M. J. (2013) · Pharmacogenomics · doi:10.2217/pgs.13.36 · Cited by 42

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence

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A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies

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Rare functional variants in genome–wide association identified candidate genes for nonsyndromic clefts in the African population

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αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Buitrago, L., Rendon, A., Liang, Y., Simeoni, I., Negri, A., Filizola, M., Ouwehand, W. H., Coller, B. S., Alessi, M., Ballmaier, M., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1422238112 · Cited by 42

A simple consensus approach improves somatic mutation prediction accuracy

Goode, D. L., Hunter, S. M., Doyle, M., Ma, T., Rowley, S. M., Choong, D., Ryland, G. L., & Campbell, I. (2013) · Genome Medicine · doi:10.1186/gm494 · Cited by 40

The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

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Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

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