The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Finding the missing heritability of complex diseases

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Initial sequencing and comparative analysis of the mouse genome

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A general framework for estimating the relative pathogenicity of human genetic variants

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A New Initiative on Precision Medicine

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Update on Key Emerging Challenges in Cystic Fibrosis

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Genomic responses in mouse models poorly mimic human inflammatory diseases

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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1205 · Cited by 2,691 · see citing works

A CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation

Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195 · see citing works

Targeted capture and massively parallel sequencing of 12 human exomes

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Exome sequencing identifies the cause of a mendelian disorder

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Wright, C., Fitzgerald, T. W., Jones, W., Clayton, S., McRae, J., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., et al. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61705-0 · Cited by 1,794 · see citing works

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001025 · Cited by 1,757 · see citing works

Missing heritability and strategies for finding the underlying causes of complex disease

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Exome sequencing as a tool for Mendelian disease gene discovery

Bamshad, M. J., Ng, S. B. H., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3031 · Cited by 1,659 · see citing works

Whole-Genome Shotgun Assembly and Analysis of the Genome of <i>Fugu rubripes</i>

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Diet and the evolution of human amylase gene copy number variation

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA · doi:10.1001/jama.2014.14601 · Cited by 1,360 · see citing works

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Ng, S. B. H., Bigham, A. W., Buckingham, K. J., Hannibal, M., McMillin, M. J., Gildersleeve, H. I. S., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,349 · see citing works

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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Guidelines for investigating causality of sequence variants in human disease

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Structural Variation in the Human Genome and its Role in Disease

Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201 · see citing works

Unipolar cell divisions in the yeast S. cerevisiae lead to filamentous growth: Regulation by starvation and RAS

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A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

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A framework for the interpretation of de novo mutation in human disease

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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De novo mutations in histone-modifying genes in congenital heart disease

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Ensembl 2014

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Charting a course for genomic medicine from base pairs to bedside

Green, E. D., & Guyer, M. S. (2011) · Nature · doi:10.1038/nature09764 · Cited by 901 · see citing works

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E., Peters, K. F., Turner, J. T., Cannons, J. L., Bick, D. P., Blakemore, L. C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1104017 · Cited by 892 · see citing works

De novo mutations in human genetic disease

Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · see citing works

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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Defining functional DNA elements in the human genome

Kellis, M., Wold, B. J., Snyder, M. P., Bernstein, B., Kundaje, A. B., Marinov, G. K., Ward, L. D., Birney, E., Crawford, G. E., Dekker, J., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318948111 · Cited by 692 · see citing works

Effect of a Monoclonal Antibody to PCSK9 on LDL Cholesterol

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Lemmers, R. J. L. F., Tawil, R., Petek, L. M., Balog, J., Block, G. J., Santen, G. W. E., Amell, A. M., van der Vliet, P. J., Almomani, R., Straasheijm, K. R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2454 · Cited by 661 · see citing works

Positional cloning moves from perditional to traditional

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Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes

Ezkurdia, I., Juan, D., Rodrı́guez, J. M., Frankish, A., Diekhans, M., Harrow, J., Vázquez, J., Valencia, A., & Tress, M. L. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu309 · Cited by 551 · see citing works

Genetics of Human Cardiovascular Disease

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Human Genome Sequencing in Health and Disease

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Deep phenotyping for precision medicine

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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

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Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

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NT5E Mutations and Arterial Calcifications

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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Genetic disorders in children and young adults: a population study.

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Saccharomyces cerevisiae S288C Has a Mutation in FL08, a Gene Required for Filamentous Growth

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

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Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

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Isolation of peroxisome-deficient mutants of Saccharomyces cerevisiae.

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A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

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Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

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Whole-Genome Sequencing for Optimized Patient Management

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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

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Suvorexant in Patients With Insomnia: Results From Two 3-Month Randomized Controlled Clinical Trials

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

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Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

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Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

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Rare inherited kidney diseases: challenges, opportunities, and perspectives

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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M., Aylsworth, A. S., Bitoun, P., Carey, J. C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.015 · Cited by 216 · see citing works

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

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Finding Our Way through Phenotypes

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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

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Chromothriptic Cure of WHIM Syndrome

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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

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Massively parallel sequencing and rare disease

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From syndrome families to functional genomics

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New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

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Next-generation sequencing demands next-generation phenotyping

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

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Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

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Exome sequencing makes medical genomics a reality

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Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories

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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

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RNA-Seq Perspectives to Improve Clinical Diagnosis

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

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Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

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Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?

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A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

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Genetic and environmental risk factors for chronic kidney disease

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Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

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Using human genetics to improve safety assessment of therapeutics

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

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Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data

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