Search details
1.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
PLoS Genet
; 14(11): e1007723, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30444886
2.
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Am J Hum Genet
; 100(5): 751-765, 2017 May 04.
Article
in English
| MEDLINE | ID: mdl-28475858
3.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28630177
4.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proc Natl Acad Sci U S A
; 113(38): E5598-607, 2016 09 20.
Article
in English
| MEDLINE | ID: mdl-27601654
5.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Article
in English
| MEDLINE | ID: mdl-24656866
6.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Article
in English
| MEDLINE | ID: mdl-25140959
7.
CRISPR Del/Rei: a simple, flexible, and efficient pipeline for scarless genome editing.
Sci Rep
; 12(1): 11928, 2022 07 13.
Article
in English
| MEDLINE | ID: mdl-35831384
8.
Transcriptome analysis of human induced excitatory neurons supports a strong effect of clozapine on cholesterol biosynthesis.
Schizophr Res
; 228: 324-326, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33497908
9.
Transcriptomic data of Clozapine-treated Ngn2-induced Human Excitatory Neurons.
Data Brief
; 35: 106897, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33681435
10.
SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.
J Cyst Fibros
; 20(5): 851-856, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33674211
11.
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.
J Clin Invest
; 130(1): 272-286, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31581148
12.
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Sci Rep
; 10(1): 14045, 2020 08 20.
Article
in English
| MEDLINE | ID: mdl-32820185
13.
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Nat Genet
; 49(4): 606-612, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28250456
14.
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
Neuron
; 88(5): 910-917, 2015 Dec 02.
Article
in English
| MEDLINE | ID: mdl-26637798
15.
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Neurology
; 81(16): 1378-86, 2013 Oct 15.
Article
in English
| MEDLINE | ID: mdl-24078737
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