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Medical Genetics specialty

Known as: Genetics, Medical, genetics medical, Medical genetics 
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup… 
National Institutes of Health

Related topics

Related topics

13 relations
Anthropology, PhysicalChromosome AberrationsCongenital chromosomal diseaseDiseases in Twins

Broader (1)

Human Genetics

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care… 
Highly Cited
2013
Highly Cited
2013
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
Purpose:The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and… 
Review
2013
Review
2013
Metabolite damage and its repair or pre-emption.
It is increasingly evident that metabolites suffer various kinds of damage, that such damage happens in all organisms and that… 
Highly Cited
2011
Highly Cited
2011
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time 
Review
2010
Review
2010
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features… 
Review
2007
Review
2007
Nordic consensus on treatment of undescended testes
Aim: To reach consensus among specialists from the Nordic countries on the present state‐of‐the‐art in treatment of undescended… 
Review
2003
Review
2003
Genomic microarrays in human genetic disease and cancer.
Alterations in the genome that lead to changes in DNA sequence copy number are a characteristic of solid tumors and are found in… 
Review
2003
Review
2003
Genetics and the making of Homo sapiens
Understanding the genetic basis of the physical and behavioural traits that distinguish humans from other primates presents one… 
Review
1998
Review
1998
Genetics of Autism: Overview and New Directions
Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or disorder and uses the methods of… 
Review
1972
Review
1972
The use of multiple thresholds in determining the mode of transmission of semi‐continuous traits *
A review of current textbooks of medical genetics (Goodman, 1970; Roberts, 1970) reveals that few, if any, of the common familial… 
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