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1.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37977818
2.
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Hum Mol Genet
; 30(7): 575-594, 2021 05 12.
Article
in English
| MEDLINE | ID: mdl-33772537
3.
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.
Epilepsia
; 64 Suppl 1: S31-S38, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36622139
4.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Epilepsia
; 64 Suppl 1: S14-S21, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37021642
5.
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
Nature
; 551(7680): 389-393, 2017 11 16.
Article
in English
| MEDLINE | ID: mdl-29144457
6.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat
; 42(7): 835-847, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33847015
7.
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Hum Mutat
; 42(8): 1030-1041, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34082468
8.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet
; 28(4): 598-614, 2019 02 15.
Article
in English
| MEDLINE | ID: mdl-30335141
9.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656860
10.
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia.
Blood
; 133(16): 1729-1741, 2019 04 18.
Article
in English
| MEDLINE | ID: mdl-30755422
11.
Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs' endothelial corneal dystrophy.
Exp Eye Res
; 210: 108692, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34228965
12.
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.
Dev Med Child Neurol
; 62(9): 1024-1030, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32542675
13.
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
Hum Mol Genet
; 26(11): 2042-2052, 2017 06 01.
Article
in English
| MEDLINE | ID: mdl-28334947
14.
Large deletions induced by Cas9 cleavage.
Nature
; 560(7717): E8-E9, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30089922
15.
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay.
Mol Cell
; 42(4): 500-10, 2011 May 20.
Article
in English
| MEDLINE | ID: mdl-21596314
16.
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.
Neurobiol Dis
; 116: 106-119, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29763708
17.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Article
in English
| MEDLINE | ID: mdl-26166480
18.
Workplace lighting for improving alertness and mood in daytime workers.
Cochrane Database Syst Rev
; 3: CD012243, 2018 03 02.
Article
in English
| MEDLINE | ID: mdl-29498416
19.
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Hum Mol Genet
; 24(7): 2000-10, 2015 Apr 01.
Article
in English
| MEDLINE | ID: mdl-25504045
20.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Article
in English
| MEDLINE | ID: mdl-26443594