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Understanding of the genotype-phenotype correlation within SLC6A1 may provide opportunities to develop new treatments for GABA-related conditions. (bmj.com)
Genotype-phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. (uni-koeln.de)
This talk is part of the From Genotype to Phenotype: Resources and Challenges (10th June 2009, Hinxton) series. (cam.ac.uk)
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. (mpg.de)
There is a need to further characterize the natural history of ZSD, the Gly470Ala variant, and expand upon possible genotype-phenotype correlations. (stanford.edu)
Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)
ClinVar is an archive of compiled data relating to genotype and phenotype variations among humans. (darkdaily.com)
birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. (feedspot.com)
For common genetic variants, early genome-wide association studies (GWASs) found that additive models captured most genotype-phenotype associations, including those with non-additive (also called dominance) effects 17 . (nature.com)
Conclusions: The data do not provide any evidence for phenotype-genotype correlations between size of the deletions or type of mutations and severity of clinical features. (eur.nl)
How genotype is translated into phenotype depends on penetrance and expressivity. (msdmanuals.com)
From Phenotype to Genotype - towards a genetic normality? (lu.se)

Both psychiatric and neurologic disorders showed robust correlations with cognitive and personality phenotypes. (medscape.com)
For example, with regard to the personality phenotypes, neuroticism, "which has by far the largest sample size," showed significant correlations with MDD, anxiety, and Tourette syndrome. (medscape.com)
This study is the first to look at genetic correlations for neurological disorders, and consequently also the first one to compare psychiatric and neurological disorders," Anttila told Medscape Medical News . (medscape.com)

Introduction to Human Phenotype Ontology. (crossref.org)

Realizing the benefits of human genetics and genomics research for people everywhere. (ashg.org)
PLOS Open-Access Journal about Genetics and genomics research. (feedspot.com)

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism. (bvsalud.org)

Her current project includes optimizing rare variant analysis techniques through machine learning across various disease phenotypes using whole exome and whole genome data. (ashg.org)
Here we examine the homozygous and heterozygous effects of 44,370 coding variants on 2,444 disease phenotypes using data from the nationwide electronic health records of 176,899 Finnish individuals. (nature.com)

She is also a member of the medical advisory committee of CDG-Care, a patient advocacy group for individuals with congenital disorders of glycosylation. (seattlechildrens.org)
Subsequently, we comprehensively described patient 's clinical features as compared to phenotype and symptoms of other known congenital coenzyme Q5-linked cases. (bvsalud.org)
The genetics of isolated congenital heart disease. (cdc.gov)

The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect. (bmj.com)
Direct sequence analysis of the EHMT1 gene in 24 patients exhibiting the 9qSTD phenotype without such deletion identified six patients with an intragenic EHMT1 mutation. (eur.nl)
Therefore, the authors confirm the EHMT1 gene to be the major determinant of the 9qSTDS phenotype. (eur.nl)
Many factors can affect gene expression (and thus phenotypes). (msdmanuals.com)
Overview of Genetics A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)
Expressivity may be influenced by the environment and by other genes, so people with the same gene may vary in phenotype. (msdmanuals.com)

She joined UW/SCH after completing her pediatric and medical genetics residency at the University of California Los Angeles, and her medical biochemical genetics fellowship at the National Institutes of Health. (seattlechildrens.org)

As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

Background Dominant mutations in peripherin ( PRPH2 ) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. (bmj.com)
We find associations for homozygous genotypes across a broad spectrum of phenotypes, including known associations with retinal dystrophy and novel associations with adult-onset cataract and female infertility. (nature.com)

American journal of medical genetics. (stanford.edu)

We sought to characterize them as "biomarker phenotypes" and to conclude differences in their overall characteristics. (karger.com)
Additional studies are warranted to confirm the association and to more fully characterize the phenotype. (cdc.gov)

With support from the NIH and CDC over the past 30+ years, she studies changes in the behavioral phenotype of specific neurodevelopmental disorders, including autism, fragile X syndrome (FXS), and Down syndrome during adolescence, adulthood, and old age. (wisc.edu)

Hypersociability in the behavioral phenotype of 17q21. (bvsalud.org)

In 2018, Humboldt Seed Co. held the World's Largest Phenotype Hunt in collaboration with many growers and breeders to find the most high-quality genetics. (stellarseeds.com)

Recent advances in the genetics of preterm birth. (cdc.gov)

6 Laboratory for Developmental Genetics, RIKEN Research Center for Integrative Medical Sciences (IMS-RCAI), Yokohama, Japan. (jci.org)

2023 American Medical Association. (jamanetwork.com)

We hypothesized the existence of distinct phenotype-based groups within the very heterogeneous population of patients of heart failure with preserved ejection fraction (HFpEF) and using an unsupervised hierarchical clustering applied to plasma concentration of various biomarkers. (karger.com)
Mailick's research incorporates epidemiological methods, biomarkers, and genetics, as well as social and psychological approaches, and analyzes electronic health records to advance knowledge about the health phenotype of FXS and autism. (wisc.edu)

Recommendations for family history, phenotype screening of at-risk family members, referral to expert centers as needed, genetic counseling, and cardiovascular therapies, informed in part by phenotype, are presented in the HFSA document. (nih.gov)
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype. (stanford.edu)
These recommendations, developed by workshop participants, will be useful to medical and public health professionals and state policymakers who are evaluating the merits of population-based screening of newborns for CF. (cdc.gov)
To this end, preventive screening for genetic disorders, including developmental disabilities, is an essential component in uncovering possible disorders early, thus enabling timely medical intervention. (who.int)

Dr. Lewis performs research in the field of genetic epidemiology/statistical genetics. (ashg.org)

Molecular Genetics and Metabolism, Vol. 85, Issue. (cambridge.org)

This information is provided to help facilitate collaborations among investigators interested in the Genetics and Epigenetics of Substance Use Disorders. (nih.gov)

In 2013, NIH awarded him another four-year grant to further ARVC/D research ("Genetics, Mechanisms and Phenotypes of Arrhythmogenic Cardiomyopathies," 1R01HL116906-01A1). (arizona.edu)

Conclusions Our data substantially expand the range of dysfunctional oocyte phenotypes incurred by mutation in TUBB8 , underscore the independent nature of human oocyte meiosis and differentiation, extend the class of genetic diseases known as the tubulinopathies and provide new criteria for the qualitative evaluation of meiosis II (MII) oocytes for in vitro fertilization (IVF). (bmj.com)
These results formally establish causal association of biallelic COQ5 mutation with pathology , outline a core COQ5-linked phenotype , and identify mRNA mis-splicing as the molecular mechanism underlying all COQ5 variant-linked pathology to date. (bvsalud.org)

Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. (bmj.com)
ClinVar is a public archive of submitted reports of clinically relevant human genetic variants and their relationships to phenotypes, with supporting evidence. (nih.gov)

Pathogenic variants in SLC6A1 disrupt the reuptake of GABA and are associated with a neurobehavioural phenotype. (bmj.com)
The phenotype of individuals with pathogenic variants in SLC6A1 includes hypotonia, intellectual disability/developmental delay, language disorder/speech delay, autism spectrum disorder, sleep issues and seizures. (bmj.com)
Conclusion Pathogenic variants in SLC6A1 are associated with a clinical phenotype of developmental delay, behaviour problems and seizures. (bmj.com)
ClinVar provides standardized nomenclature for variants and phenotypes, a review status for variants, and links to related NCBI literature and molecular databases. (nih.gov)
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. (mpg.de)
Rehm's lab, along with the University of Chicago , Ambry Genetics, and GeneDx, analyzed over 6,000 variants submitted to ClinVar by two or more separate labs. (darkdaily.com)

The objective was to describe newly discovered mutations in TUBB8 and to characterise the accompanying spectrum of phenotypes and modes of inheritance. (bmj.com)
We characterise this phenotype. (bmj.com)

A writing group of cardiologists and genetics professionals updated guidance, first published in 2009 for the Heart Failure Society of America (HFSA), in a collaboration with the American College of Medical Genetics and Genomics (ACMG). (nih.gov)
She obtained a Ph.D. in Biomedical Informatics with a focus in Human Genetics from Northwestern University where she performed research in uncovering rare and common variation underlying heart failure using longitudinal phenotyping in a medical biobank. (ashg.org)

Her academic background includes post-doctoral training in statistical genetics at The University of Alabama at Birmingham (UAB) in the Department of Biostatistics Section on Statistical Genetics. (ashg.org)
Dr. Harris has received formal and practical training in statistics and statistical genetics. (ashg.org)
Tess Pottinger, PhD is a Postdoctoral Research Scientist at the Institute for Genomic Medicine at Columbia University where she performs research in the field of statistical genetics. (ashg.org)

The journal publishes high-quality research papers, short reports, reviews, and mini-reviews that connect medical genetics research with clinical practice. (feedspot.com)
Such leadership is needed to protect the public from inappropriate testing and to ensure that validated and useful tests are properly integrated into medical and public health practice. (cdc.gov)

This is relevant as cardiomyopathy is the phenotype associated with 27% of the genes on the ACMG list for return of secondary findings. (nih.gov)
Reproducible quantifiable imaging features of GBM heterogeneity that explicitly examine links between the imaging findings and the underlying GBM phenotypes characteristics are identified. (hindawi.com)
This is an educational session meant to emphasize scientific topics of greatest interest to child and adolescent psychiatrists including recent findings in research treatment, neuroimaging, genetics, and more. (aacap.org)

So far it has not been established if and to what extent other genes in the 9q34.3 region contribute to the phenotype observed in deletion cases. (eur.nl)
Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes. (cdc.gov)

All molecularly confirmed individuals (n=17) with either no symptoms (n=12), migraines (n=1), or a neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) phenotype (n=3) were found to have an A or U mitochondrial haplogroup, while one child with infantile-lethal Leigh syndrome had a B haplogroup. (stanford.edu)

The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. (feedspot.com)

Rehm also would like insurers to require that medical laboratories share their data on variant interpretation before the insurer grants coverage. (darkdaily.com)

It is one of the most common causes of ADNSHL in Mideast countries due to prevalent consanguineous marriage [ 22 , 23 ], with majority associated with prelingual severe-to-profound hearing loss and mutations in exon 2 leading to a milder auditory phenotype [ 23 ]. (hindawi.com)

At UNC, Sullivan is Yeargan Distinguished Professor of Genetics and Psychiatry and Director of Psychiatric Genomics. (sciencedaily.com)

This concept, which she compares to crowdsourcing , would include a process whereby researchers and labs within the medical community aggregate information to create a consistent baseline evaluation for the benefit of physicians and patients. (darkdaily.com)
They began by providing medical marijuana for Prop 215 patients in California and have since expanded into the recreational market. (stellarseeds.com)
The researchers quantified genetic overlap across 25 psychiatric and neurologic disorders from genome-wide association studies (GWAS) of 265,218 patients and 784,643 control persons and assessed the relationship of those disorders to physical and cognitive phenotypes from nearly 1.2 million individuals. (medscape.com)
The tradition of drawing these sharp lines when patients are diagnosed probably doesn't follow the reality, where mechanisms in the brain might cause overlapping symptoms," Benjamin Neale, PhD, co-senior author, from the Broad Institute and the Analytical and Translational Genetics Unit at Massachusetts General Hospital, said in a news release. (medscape.com)
There are 2 phenotypes of FMF: FMF considerable numbers of FMF patients, but the exact type 1 is characterized by all the symptoms cited above, numbers are unknown. (who.int)

The exact cause of autism is not entirely known, although genetics clearly plays an important role. (genome.gov)
Within the cognitive phenotypes, genetic factors that predispose individuals to certain psychiatric disorders - namely, anorexia, autism, bipolar disorder, and OCD - correlated significantly with factors associated with higher childhood cognitive measures, including more years of education and attending college. (medscape.com)

Strong background in genetics and stats/bioinformatics preferred. (ubc.ca)

Their proposal would loosen diagnostic criteria to include two major features with any number of supportive criteria, allowing for a diagnosis of CHARGE syndrome in cases of atypical or more mild phenotypes. (medscape.com)

International Journal of Medical Informatics 77(2):81-97, 2008. (wikipedia.org)
CODEN: GENEG9) is a peer-reviewed open-access journal of genetics and genomics published monthly online by MDPI. (feedspot.com)

Faculty in Medical Genetics are at the forefront of their fields employing cutting edge genetic, epigenetic, genomic and bioinformatic methodologies to gain insight into diseases such as cancer, diabetes, obesity, neurodegenerative and neurological disorders, and other genetic diseases. (ubc.ca)
However, this proof-of-concept study defines a roadmap for future studies investigating the genetic covariance between structural/functional brain phenotypes and risk for psychiatric disorders," Sullivan said. (sciencedaily.com)

Jennifer Sanmann, PhD, FACMG, is an adjunct associate professor in the Department of Genetic Medicine at the UNMC Munroe-Meyer Institute for Genetics and Rehabilitation. (unmc.edu)
At Karolinska Institutet he is Professor of Psychiatric Genetics in the Department of Medical Epidemiology and Biostatistics. (sciencedaily.com)

ClinVar exists to meet the needs of the medical genetics community. (darkdaily.com)
A key challenge with a database like ClinVar is that different medical laboratories may interpret test outcomes in contrasting manners. (darkdaily.com)

Variations in the degree of mosaicism between tissues explained the phenotype. (lu.se)

11 Laboratory for Mathematical Modeling of the Immune System, RIKEN Research Center for Integrative Medical Sciences (IMS-RCAI), Yokohama, Japan. (jci.org)
The Human Genetics Scholars Initiative was developed to help advance diversity and inclusion in the human genetics research workforce. (ashg.org)
Heidi Rehm, PhD , is the Chief Laboratory Director at Laboratory for Molecular Medicine (LMM) at Partners HealthCare Personalized Medicine, and Medical Director, Clinical Research Sequencing Platform at the Broad Institute. (darkdaily.com)
I am a Senior Lecturer on the MSc Medical Genetics and Genomics programme and I am principal investigator of a research lab in the Department of Health and Life Sciences. (brookes.ac.uk)
Uncovering the genetic influences and patterns of overlap between different genetic risk factors allows us to better understand the root causes of these conditions and potentially identify specific mechanisms appropriate for tailored treatments," first author Verneri Anttila, PhD, research fellow at the Broad Institute of the Massachusetts Institute of Techology and Harvard University, in Cambridge, told Medscape Medical News . (medscape.com)
Yet, the application of genetics research in the promotion of health and the prevention of disease and disability has been explored only minimally. (cdc.gov)
The complex and controversial issues concerning genetics research that have emerged (e.g., the quality of laboratory testing, the rapid commercialization of genetic tests, and the potential for discrimination and stigmatization) require public health leadership. (cdc.gov)
Recommendations to medical researchers regarding how to inform potential participants (Swedisch Research Council). (lu.se)

Anatomy18

Organisms16

Diseases14

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment43

Psychiatry and Psychology5

Phenomena and Processes116

Disciplines and Occupations14

Anthropology, Education, Sociology and Social Phenomena3

Technology, Industry, Agriculture1

Humanities2

Information Science9

Health Care12

Genotype12

Correlations3

Human Phenotype Ontology1

Genomics research2

Core phenotype1

Disease phenotypes2

Congenital3

Gene6

Biochemical genetics fellowship1

Humans1

Retinal dystrophy2

American Journal of Medical Genetics1

Characterize2

Neurodevelopmental disorders1

Behavioral1

20181

Advances1

Developmental Genetics1

20231

Biomarkers2

Screening4

Genetic epidemiology1

Metabolism1

Epigenetics1

Cardiomyopathies1

Mutation2

Clinically2

Variants6

Characterise2

Heart Failure2

Statistical genetics3

Practice2

Findings3

Genes2

Neurogenic1

Broad publishi1

Variant1

Auditory1

Psychiatry1

Patients5

Autism2

Bioinformatics1

Atypical1

Journal2

Disorders2

Professor2

ClinVar2

Mosaicism1

Research8