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| Title : CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree - Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| Author(s) : Soler-Alfonso C , Carvalho CM , Ge J , Roney EK , Bader PI , Kolodziejska KE , Miller RM , Lupski JR , Stankiewicz P , Cheung SW , Bi W , Schaaf CP |
| Ref : Eur J Hum Genet , 22 :1071 , 2014 |
| Abstract : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| ESTHER : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| PubMedSearch : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| PubMedID: 24424125 |
| Title : SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties - Han_2013_Nature_503_72 |
| Author(s) : Han K , Holder JL, Jr. , Schaaf CP , Lu H , Chen H , Kang H , Tang J , Wu Z , Hao S , Cheung SW , Yu P , Sun H , Breman AM , Patel A , Lu HC , Zoghbi HY |
| Ref : Nature , 503 :72 , 2013 |
| Abstract : Han_2013_Nature_503_72 |
| ESTHER : Han_2013_Nature_503_72 |
| PubMedSearch : Han_2013_Nature_503_72 |
| PubMedID: 24153177 |
| Title : Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions - Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| Author(s) : Schaaf CP , Boone PM , Sampath S , Williams C , Bader PI , Mueller JM , Shchelochkov OA , Brown CW , Crawford HP , Phalen JA , Tartaglia NR , Evans P , Campbell WM , Tsai AC , Parsley L , Grayson SW , Scheuerle A , Luzzi CD , Thomas SK , Eng PA , Kang SH , Patel A , Stankiewicz P , Cheung SW |
| Ref : Eur J Hum Genet , 20 :1240 , 2012 |
| Abstract : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| ESTHER : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| PubMedSearch : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| PubMedID: 22617343 |
| Title : Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? - Szafranski_2010_Hum.Mutat_31_840 |
| Author(s) : Szafranski P , Schaaf CP , Person RE , Gibson IB , Xia Z , Mahadevan S , Wiszniewska J , Bacino CA , Lalani S , Potocki L , Kang SH , Patel A , Cheung SW , Probst FJ , Graham BH , Shinawi M , Beaudet AL , Stankiewicz P |
| Ref : Hum Mutat , 31 :840 , 2010 |
| Abstract : Szafranski_2010_Hum.Mutat_31_840 |
| ESTHER : Szafranski_2010_Hum.Mutat_31_840 |
| PubMedSearch : Szafranski_2010_Hum.Mutat_31_840 |
| PubMedID: 20506139 |