Summary: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Top Publications

  1. Williamson K, Rainger J, Floyd J, Ansari M, Meynert A, Aldridge K, et al. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet. 2014;94:295-302 pubmed publisher
    ..A combined LOD score of 4.2 was obtained for the association between YAP1 loss-of-function mutations and the phenotype in these families...
  2. Proestou D, Flight P, Champlin D, Nacci D. Targeted approach to identify genetic loci associated with evolved dioxin tolerance in Atlantic killifish (Fundulus heteroclitus). BMC Evol Biol. 2014;14:7 pubmed publisher
    ..Surprisingly, the magnitude and phenotype of DLC tolerance is similar among these killifish populations that have adapted to varied, but highly aromatic ..
  3. Ferreira M, Matheson M, Tang C, Granell R, Ang W, Hui J, et al. Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol. 2014;133:1564-71 pubmed publisher
    To date, no genome-wide association study (GWAS) has considered the combined phenotype of asthma with hay fever...
  4. Rosas M, Davies L, Giles P, Liao C, Kharfan B, Stone T, et al. The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal. Science. 2014;344:645-648 pubmed publisher
    ..Our investigations reveal that the tissue macrophage phenotype is under discrete tissue-selective transcriptional control and that this is fundamentally linked to the ..
  5. Reitzel A, Karchner S, Franks D, Evans B, Nacci D, Champlin D, et al. Genetic variation at aryl hydrocarbon receptor (AHR) loci in populations of Atlantic killifish (Fundulus heteroclitus) inhabiting polluted and reference habitats. BMC Evol Biol. 2014;14:6 pubmed publisher
    ..nucleotides in AHR1 and AHR2, and specific AHR2 SNPs and haplotypes that are associated with the PCB-resistant phenotype in the New Bedford Harbor population...
  6. Smith K, Maizels R. IL-6 controls susceptibility to helminth infection by impeding Th2 responsiveness and altering the Treg phenotype in vivo. Eur J Immunol. 2014;44:150-61 pubmed publisher
    IL-6 plays a pivotal role in favoring T-cell commitment toward a Th17 cell rather than Treg-cell phenotype, as established through in vitro model systems...
  7. Won J, Charette J, Philip V, Stearns T, Zhang W, Naggert J, et al. Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis. Exp Eye Res. 2014;118:30-5 pubmed publisher
    ..Mice were genotyped with a panel of single nucleotide polymorphism markers, and genotypes were correlated with phenotype by quantitative trait locus (QTL) analysis to map modifier loci...
  8. Roberts B, Lim N, McAllum E, Donnelly P, Hare D, Doble P, et al. Oral treatment with Cu(II)(atsm) increases mutant SOD1 in vivo but protects motor neurons and improves the phenotype of a transgenic mouse model of amyotrophic lateral sclerosis. J Neurosci. 2014;34:8021-31 pubmed publisher
    ..dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS) in humans and an expression level-dependent phenotype in transgenic rodents...
  9. Grimm O, Heinz A, Walter H, Kirsch P, Erk S, Haddad L, et al. Striatal response to reward anticipation: evidence for a systems-level intermediate phenotype for schizophrenia. JAMA Psychiatry. 2014;71:531-9 pubmed publisher
    ..Schizophrenia is highly heritable, raising the possibility that this phenotype is related to the genetic risk for the disorder...

More Information


  1. Jones J, Wang H, Karanam B, Theodore S, Dean Colomb W, Welch D, et al. Nuclear localization of Kaiso promotes the poorly differentiated phenotype and EMT in infiltrating ductal carcinomas. Clin Exp Metastasis. 2014;31:497-510 pubmed publisher
    ..Immunofluorescence co-staining of poorly differentiated IDCs demonstrated that nuclear Kaiso is associated with a loss of E-cadherin expression. These findings support a role for Kaiso in promoting aggressive breast tumors. ..
  2. Yoshida T, Ozawa Y, Kimura T, Sato Y, Kuznetsov G, Xu S, et al. Eribulin mesilate suppresses experimental metastasis of breast cancer cells by reversing phenotype from epithelial-mesenchymal transition (EMT) to mesenchymal-epithelial transition (MET) states. Br J Cancer. 2014;110:1497-505 pubmed publisher
    ..receptor (ER-)/progesterone receptor (PR-)/human epithelial growth receptor 2 (HER2-) and have a mesenchymal phenotype, were treated with eribulin for 7 days, followed by measurement of EMT-related gene and protein expression ..
  3. Kane D, Shcherbakova P. A common cancer-associated DNA polymerase ? mutation causes an exceptionally strong mutator phenotype, indicating fidelity defects distinct from loss of proofreading. Cancer Res. 2014;74:1895-901 pubmed publisher
    ..An analogous substitution in the yeast Pol? produced an unusually strong mutator phenotype exceeding that of proofreading-deficient mutants by two orders of magnitude...
  4. Clavreul A, Guette C, Faguer R, Tétaud C, Boissard A, Lemaire L, et al. Glioblastoma-associated stromal cells (GASCs) from histologically normal surgical margins have a myofibroblast phenotype and angiogenic properties. J Pathol. 2014;233:74-88 pubmed publisher
    ..Several proteins changed in GASCs are related to a highly motile myofibroblast phenotype, and to wound healing and angiogenesis...
  5. Just J, Saint Pierre P, Gouvis Echraghi R, Laoudi Y, Roufai L, Momas I, et al. Childhood allergic asthma is not a single phenotype. J Pediatr. 2014;164:815-20 pubmed publisher
    IgE-mediated allergic asthma phenotype appears to be heterogeneous. We set out to define distinct allergic phenotypes by unsupervised cluster analysis...
  6. Machado Neto J, de Melo Campos P, Favaro P, Lazarini M, Lorand Metze I, Costa F, et al. Stathmin 1 is involved in the highly proliferative phenotype of high-risk myelodysplastic syndromes and acute leukemia cells. Leuk Res. 2014;38:251-7 pubmed publisher
    ..Our data suggest that Stathmin 1 expression may be related to the highly proliferative phenotype of hematopoietic cells and add new insights into the participation of Stathmin 1 in hematological malignancies.
  7. Tryka K, Hao L, Sturcke A, Jin Y, Wang Z, Ziyabari L, et al. NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res. 2014;42:D975-9 pubmed publisher archive, curate and distribute information produced by studies investigating the interaction of genotype and phenotype. Information in dbGaP is organized as a hierarchical structure and includes the accessioned objects, phenotypes (..
  8. Mackay T. Epistasis and quantitative traits: using model organisms to study gene-gene interactions. Nat Rev Genet. 2014;15:22-33 pubmed publisher
    ..controversial, despite the biological plausibility that nonlinear molecular interactions underpin the genotype-phenotype map. This controversy arises because most genetic variation for quantitative traits is additive...
  9. Le Fevre A, Taylor S, Malek N, Horn D, Carr C, Abdul Rahman O, et al. FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A. 2013;161A:3166-75 pubmed publisher
    ..Review of our patient and others reported in the literature reveals an emerging phenotype of GDD/ID with moderate to severe speech delay where expressive speech is most severely affected...
  10. Landrum M, Lee J, Riley G, Jang W, Rubinstein W, Church D, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42:D980-5 pubmed publisher Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0...
  11. Bartos D, Giudicessi J, Tester D, Ackerman M, Ohno S, Horie M, et al. A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm. 2014;11:459-68 pubmed publisher
    ..KCNQ1 mutations that generate relatively normal Kv7.1 channels, but limit the upregulation of IKs by PKA activation, likely contribute to concealed LQT1. ..
  12. Abolhassani H, Amirkashani D, Parvaneh N, Mohammadinejad P, Gharib B, Shahinpour S, et al. Autoimmune phenotype in patients with common variable immunodeficiency. J Investig Allergol Clin Immunol. 2013;23:323-9 pubmed
    ..To describe the clinical features of the autoimmune phenotype in patients with CVID...
  13. Alcalay R, Mirelman A, Saunders Pullman R, Tang M, Mejia Santana H, Raymond D, et al. Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. Mov Disord. 2013;28:1966-71 pubmed publisher
    The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking...
  14. Suls A, Jaehn J, Kecsk s A, Weber Y, Weckhuysen S, Craiu D, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013;93:967-75 pubmed publisher
    ..Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures...
  15. Steurer S, Seddiqi A, Singer J, Bahar A, Eichelberg C, Rink M, et al. MALDI imaging on tissue microarrays identifies molecular features associated with renal cell cancer phenotype. Anticancer Res. 2014;34:2255-61 pubmed
    ..They also demonstrate that the combination of the MALDI mass spectrometry imaging and large-scale tissue microarray platforms represents a powerful approach to identify clinically-relevant molecular cancer features. ..
  16. Kohler S, Doelken S, Mungall C, Bauer S, Firth H, Bailleul Forestier I, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014;42:D966-74 pubmed publisher
    The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology...
  17. Yang Y, Cui Y, Peng D. The role of monocyte phenotype switching in peri-procedural myocardial injury and its involvement in statin therapy. Med Sci Monit. 2013;19:1006-12 pubmed publisher
    ..Moreover, statins loading before PCI could exert anti-inflammatory effects partly by modulating monocyte phenotype and thus prevent peri-procedural myocardial injury.
  18. Bromfield J, Schjenken J, Chin P, Care A, Jasper M, Robertson S. Maternal tract factors contribute to paternal seminal fluid impact on metabolic phenotype in offspring. Proc Natl Acad Sci U S A. 2014;111:2200-5 pubmed publisher
    ..Altered offspring phenotype was partly attributable to sperm damage and partly to an effect of seminal fluid deficiency on the female tract, ..
  19. Bere A, Tayib S, Kriek J, Masson L, Jaumdally S, Barnabas S, et al. Altered phenotype and function of NK cells infiltrating human papillomavirus (HPV)-associated genital warts during HIV infection. Clin Immunol. 2014;150:210-9 pubmed publisher
    ..This study compared phenotype and functions of NK and T cells from genital warts and blood from 67 women...
  20. Holven K, Retterstøl K, Ueland T, Ulven S, Nenseter M, Sandvik M, et al. Subjects with low plasma HDL cholesterol levels are characterized by an inflammatory and oxidative phenotype. PLoS ONE. 2013;8:e78241 pubmed publisher
    ..To examine the inflammatory, anti-oxidative and metabolic phenotype of subjects with low plasma HDL cholesterol levels...
  21. Trudler D, Weinreb O, Mandel S, Youdim M, Frenkel D. DJ-1 deficiency triggers microglia sensitivity to dopamine toward a pro-inflammatory phenotype that is attenuated by rasagiline. J Neurochem. 2014;129:434-47 pubmed publisher
    ..Rasagaline, a monoamine oxidase inhibitor approved for treatment of PD, reduced the microglial pro-inflammatory phenotype and significantly reduced neurotoxicity...
  22. Karlsson M, Magnusson H, Cöster M, Vonschewelov T, Karlsson C, Rosengren B. Patients with hip osteoarthritis have a phenotype with high bone mass and low lean body mass. Clin Orthop Relat Res. 2014;472:1224-9 pubmed publisher
    ..We asked whether patients with primary hip OA have a phenotype with higher bone mineral density (BMD), higher BMI, larger skeletal size, lower lean body mass, and higher fat ..
  23. Liu P, Gelowani V, Zhang F, Drory V, Ben Shachar S, Roney E, et al. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014;94:462-9 pubmed publisher
    ..arose de novo from maternally transmitted duplications and caused a more severe distal symmetric polyneuropathy phenotype. The recombination that generated the triplication occurred between sister chromatids on the duplication-bearing ..
  24. Poelstra J, Vijay N, Bossu C, Lantz H, Ryll B, Muller I, et al. The genomic landscape underlying phenotypic integrity in the face of gene flow in crows. Science. 2014;344:1410-4 pubmed publisher
    ..Thus, localized genomic selection can cause marked heterogeneity in introgression landscapes while maintaining phenotypic divergence. ..
  25. Miller J, Ganat Y, Kishinevsky S, Bowman R, Liu B, Tu E, et al. Human iPSC-based modeling of late-onset disease via progerin-induced aging. Cell Stem Cell. 2013;13:691-705 pubmed publisher
    ..Thus, our study suggests that progerin-induced aging can be used to reveal late-onset age-related disease features in hiPSC-based disease models. ..
  26. Flicek P, Amode M, Barrell D, Beal K, Billis K, Brent S, et al. Ensembl 2014. Nucleic Acids Res. 2014;42:D749-55 pubmed publisher
    ..that we support to 77 and expanded our genome browser with a new scrollable overview and improved variation and phenotype views...
  27. Klug F, Prakash H, Huber P, Seibel T, Bender N, Halama N, et al. Low-dose irradiation programs macrophage differentiation to an iNOS?/M1 phenotype that orchestrates effective T cell immunotherapy. Cancer Cell. 2013;24:589-602 pubmed publisher
  28. Sato A, Sokabe T, Kashio M, Yasukochi Y, Tominaga M, Shiomi K. Embryonic thermosensitive TRPA1 determines transgenerational diapause phenotype of the silkworm, Bombyx mori. Proc Natl Acad Sci U S A. 2014;111:E1249-55 pubmed publisher
    ..This study identifying a thermosensitive TRP channel that acts as a molecular switch for a relatively long-term predictive adaptive response by inducing an alternative phenotype to seasonal polyphenism is unique.
  29. Bate Eya L, Ebus M, Koster J, den Hartog I, Zwijnenburg D, Schild L, et al. Newly-derived neuroblastoma cell lines propagated in serum-free media recapitulate the genotype and phenotype of primary neuroblastoma tumours. Eur J Cancer. 2014;50:628-37 pubmed publisher
    ..This establishes that these neuroblastoma TICs cultured under serum-free conditions are relevant and useful neuroblastoma tumour models. ..
  30. Kushwah R, Gagnon S, Sweezey N. Intrinsic predisposition of naïve cystic fibrosis T cells to differentiate towards a Th17 phenotype. Respir Res. 2013;14:138 pubmed publisher both mouse and human CF an intrinsically enhanced predisposition of Th0 cells to differentiate towards a Th17 phenotype, while having a normal propensity for differentiation into Th1 and Treg lineages...
  31. Doligez A, Bertrand Y, Farnos M, Grolier M, Romieu C, Esnault F, et al. New stable QTLs for berry weight do not colocalize with QTLs for seed traits in cultivated grapevine (Vitis vinifera L.). BMC Plant Biol. 2013;13:217 pubmed publisher
    ..To identify new stable QTLs for marker-assisted selection and candidate gene identification, we performed simultaneous QTL detection in four mapping populations (seeded or seedless) with various genetic backgrounds...
  32. Pillai S, Behra R, Nestler H, Suter M, Sigg L, Schirmer K. Linking toxicity and adaptive responses across the transcriptome, proteome, and phenotype of Chlamydomonas reinhardtii exposed to silver. Proc Natl Acad Sci U S A. 2014;111:3490-5 pubmed publisher
    ..From the analysis of the perturbations of the cell's functions, we derived a detailed mechanistic understanding of temporal dynamics of toxicity and adaptive response pathways for C. reinhardtii exposed to silver. ..
  33. Liegel R, Handley M, Ronchetti A, Brown S, Langemeyer L, Linford A, et al. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013;93:1001-14 pubmed publisher
  34. Sharif A, Kraus E, Zachary A, Lonze B, Nazarian S, Segev D, et al. Histologic phenotype on 1-year posttransplantation biopsy and allograft survival in HLA-incompatible kidney transplants. Transplantation. 2014;97:541-7 pubmed publisher
    ..from desensitized recipients transplanted between 1999 and 2010 and estimated graft survival for each histologic phenotype identified...
  35. Amaral G, Dias G, Wellington Oguri M, Chimetto L, Campeão M, Thompson F, et al. Genotype to phenotype: identification of diagnostic vibrio phenotypes using whole genome sequences. Int J Syst Evol Microbiol. 2014;64:357-65 pubmed publisher
    ..Vibrio species that were negative for a given phenotype revealed the absence of all or several genes involved in the respective biochemical pathways, indicating the ..
  36. Luhur A, Chawla G, Wu Y, Li J, Sokol N. Drosha-independent DGCR8/Pasha pathway regulates neuronal morphogenesis. Proc Natl Acad Sci U S A. 2014;111:1421-6 pubmed publisher
    ..Given that reduction of human DGCR8/Pasha may contribute to the cognitive and behavioral characteristics of DiGeorge syndrome patients, disruption of this newly described pathway could underlie human neurological disease. ..
  37. Hirata H, Yurube T, Kakutani K, Maeno K, Takada T, Yamamoto J, et al. A rat tail temporary static compression model reproduces different stages of intervertebral disc degeneration with decreased notochordal cell phenotype. J Orthop Res. 2014;32:455-63 pubmed publisher
    ..This rat tail temporary static compression model, which exhibits decreased NC phenotype, increased apoptotic cell death, and imbalanced catabolic and anabolic gene expression, reproduces different ..
  38. Civelek M, Lusis A. Systems genetics approaches to understand complex traits. Nat Rev Genet. 2014;15:34-48 pubmed publisher
  39. Courties G, Heidt T, Sebas M, Iwamoto Y, Jeon D, Truelove J, et al. In vivo silencing of the transcription factor IRF5 reprograms the macrophage phenotype and improves infarct healing. J Am Coll Cardiol. 2014;63:1556-66 pubmed publisher
    ..In healing wounds, the M1 toward M2 macrophage phenotype transition supports resolution of inflammation and tissue repair...
  40. Saggar R, Khanna D, Vaidya A, Derhovanessian A, Maranian P, Duffy E, et al. Changes in right heart haemodynamics and echocardiographic function in an advanced phenotype of pulmonary hypertension and right heart dysfunction associated with pulmonary fibrosis. Thorax. 2014;69:123-9 pubmed publisher
    ..of parenteral treprostinil on right heart function in patients with PF associated with an advanced PH phenotype. Open-label, prospective analysis of patients with PF-PH referred for lung transplantation (LT)...