Search details
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Article
in English
| MEDLINE | ID: mdl-24998929
2.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Article
in English
| MEDLINE | ID: mdl-25363768
3.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Eur J Hum Genet
; 26(1): 54-63, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29209020
4.
Excess of rare, inherited truncating mutations in autism.
Nat Genet
; 47(6): 582-8, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25961944
5.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Nat Genet
; 46(4): 380-4, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24531329
6.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Nat Genet
; 46(10): 1063-71, 2014 10.
Article
in English
| MEDLINE | ID: mdl-25217958
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