Feil Family Brain & Mind Research Institute

Publications

Found 3 results
Author Title Type [ Year(Desc)]
Filters: Keyword is Polymorphism, Single Nucleotide  [Clear All Filters]
2015
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MHsi-Yang et al..  2015.  An integrated map of structural variation in 2,504 human genomes.. Nature. 526(7571):75-81.
2016
Maduro V, Pusey BN, Cherukuri PF, Atkins P, Souich Cdu, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P et al..  2016.  Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.. Orphanet J Rare Dis. 11(1):62.
2017
Elsaid MFawzi, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA et al..  2017.  Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.. Ann Neurol. 81(1):68-78.