Detalhe da pesquisa
1.
The Genetic Basis of Hydrocephalus.
Annu Rev Neurosci
; 39: 409-35, 2016 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27145913
2.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
3.
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Hum Genomics
; 13(1): 19, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992063
4.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Hum Mutat
; 40(9): 1474-1485, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260570
5.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865493
6.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Am J Hum Genet
; 96(2): 245-57, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597510
7.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
8.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(2): 155-66, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561519
9.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335020
10.
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Neuropediatrics
; 49(4): 256-261, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801191
11.
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hum Mol Genet
; 24(20): 5677-86, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188006
12.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Am J Hum Genet
; 95(1): 85-95, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995868
13.
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Proc Natl Acad Sci U S A
; 111(11): 4197-202, 2014 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591628
14.
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
N Engl J Med
; 368(21): 1992-2003, 2013 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23656588
15.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(4): 609, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834187
16.
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
J Med Genet
; 49(6): 391-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693283
17.
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Hum Mutat
; 33(1): 42-63, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990111
18.
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Brain
; 132(Pt 3): 810-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19201763
19.
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
Nat Commun
; 11(1): 5903, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214552
20.
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Nat Genet
; 52(11): 1145-1150, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046855