Genetics of recessive cognitive disorders
L Musante, HH Ropers - Trends in Genetics, 2014 - cell.com
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X
chromosome gene defects and disease-causing copy-number variants have been linked to …
chromosome gene defects and disease-causing copy-number variants have been linked to …
Genetics of autosomal recessive intellectual disability
R Jamra - medizinische genetik, 2018 - Springer
In the last few years, next-generation sequencing has led to enormous progress in
deciphering monogenic forms of intellectual disability. Autosomal dominant intellectual …
deciphering monogenic forms of intellectual disability. Autosomal dominant intellectual …
Genetics of intellectual disability in consanguineous families
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …
disability (ID) in countries with frequent parental consanguinity, which account for about …
Genetics of intellectual disability
HH Ropers - Current opinion in genetics & development, 2008 - Elsevier
Early onset intellectual disability (ID) is one of the largest unsolved problems of health care.
Yet, it has received very little public attention in the past because many health care …
Yet, it has received very little public attention in the past because many health care …
Discontinuity in the genetic and environmental causes of the intellectual disability spectrum
A Reichenberg, M Cederlöf… - Proceedings of the …, 2016 - National Acad Sciences
Intellectual disability (ID) occurs in almost 3% of newborns. Despite substantial research, a
fundamental question about its origin and links to intelligence (IQ) still remains. ID has been …
fundamental question about its origin and links to intelligence (IQ) still remains. ID has been …
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in
consanguineous families, however, founder populations may also be of interest to study …
consanguineous families, however, founder populations may also be of interest to study …
Genetic basis of intellectual disability
JW Ellison, JA Rosenfeld… - Annual review of medicine, 2013 - annualreviews.org
In the past decade, we have witnessed a flood of reports about mutations that cause or
contribute to intellectual disability (ID). This rapid progress has been driven in large part by …
contribute to intellectual disability (ID). This rapid progress has been driven in large part by …
Effect of inbreeding on intellectual disability revisited by trio sequencing
In outbred Western populations, most individuals with intellectual disability (ID) are sporadic
cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) …
cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) …
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …
3% of the general population. Although research into the genetic causes of ID has recently …
Genetics of early onset cognitive impairment
HH Ropers - Annual review of genomics and human genetics, 2010 - annualreviews.org
Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …
compared to autism and schizophrenia, it has received very little public attention. Important …