Search details
1.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100083
2.
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Am J Hum Genet
; 93(4): 765-72, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-24075189
3.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
J Med Genet
; 52(5): 303-11, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25650066
4.
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Am J Hum Genet
; 90(4): 693-700, 2012 Apr 06.
Article
in English
| MEDLINE | ID: mdl-22425360
5.
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Am J Hum Genet
; 88(3): 306-16, 2011 Mar 11.
Article
in English
| MEDLINE | ID: mdl-21376300
6.
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
J Med Genet
; 50(11): 740-4, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23687350
7.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Hum Mutat
; 34(2): 385-94, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23161826
8.
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Am J Hum Genet
; 87(5): 671-8, 2010 Nov 12.
Article
in English
| MEDLINE | ID: mdl-20950788
9.
Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.
Behav Brain Funct
; 9: 9, 2013 Feb 20.
Article
in English
| MEDLINE | ID: mdl-23425335
10.
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
J Med Genet
; 49(10): 636-41, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-23012439
11.
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
N Engl J Med
; 360(6): 599-605, 2009 Feb 05.
Article
in English
| MEDLINE | ID: mdl-19196676
12.
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
Ann Neurol
; 65(6): 748-53, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19557857
13.
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Eur J Hum Genet
; 24(4): 607-10, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26197979
14.
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Eur J Hum Genet
; 22(6): 792-800, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24253858
15.
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.
Neurobiol Aging
; 34(4): 1311.e1-2, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23062600
16.
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
Eur J Hum Genet
; 21(7): 749-56, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23169495
17.
SYNE1 mutations in autosomal recessive cerebellar ataxia.
JAMA Neurol
; 70(10): 1296-31, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23959263
18.
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Neuron
; 80(2): 429-41, 2013 Oct 16.
Article
in English
| MEDLINE | ID: mdl-24139043
19.
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
Eur J Hum Genet
; 20(7): 796-800, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22258530
20.
Intellectual disability without epilepsy associated with STXBP1 disruption.
Eur J Hum Genet
; 19(5): 607-9, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21364700