Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding of the language profiles of individuals with 16p11.2 CNVs is still limited. This study builds upon previous work in the Simons Variation in Individuals Project (VIP, now known as Simons Searchlight), to characterize language abilities in 16p11.2 deletion and duplication carriers using comprehensive assessments. Participants included 110 clinically ascertained children and family members (i.e., siblings and cousins) with 16p11.2 BP4-BP5 deletion and 58 with 16p11.2 BP4-BP5 duplication between the ages of 2-23 years, most of whom were verbal. Regression analyses were performed to quantif...
International audienceThe recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent know...
Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intelle...
Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most ...
Background Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variati...
AbstractBackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number ...
Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs),...
IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated wit...
IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated wit...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
<div><p>A significant proportion of children (up to 7% in the UK) present with pronounced language d...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form...
International audienceThe recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent know...
Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intelle...
Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most ...
Background Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variati...
AbstractBackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number ...
Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs),...
IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated wit...
IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated wit...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
<div><p>A significant proportion of children (up to 7% in the UK) present with pronounced language d...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
A significant proportion of children (up to 7% in the UK) present with pronounced language difficult...
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form...
International audienceThe recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent know...
Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intelle...
Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most ...