Detalhe da pesquisa
1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
2.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
3.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A
; 182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275123
4.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087320
5.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
6.
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Hum Mol Genet
; 25(5): 892-902, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721934
7.
NR2F1 mutations cause optic atrophy with intellectual disability.
Am J Hum Genet
; 94(2): 303-9, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462372
8.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 19(8): 962, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777376
9.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 18(11): 1143-1150, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26986877
10.
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
BMC Ophthalmol
; 14: 59, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886270
11.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Cancers (Basel)
; 16(5)2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473316
12.
The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment.
Front Hum Neurosci
; 16: 727565, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35845239
13.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Eur J Hum Genet
; 26(1): 54-63, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209020
14.
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Ophthalmic Genet
; 38(2): 127-132, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27029556
15.
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Genes (Basel)
; 8(12)2017 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29232904
16.
Novel genetic causes for cerebral visual impairment.
Eur J Hum Genet
; 24(5): 660-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350515
17.
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Eur J Hum Genet
; 23(12): 1689-93, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25804403
18.
Chromosomal aberrations in cerebral visual impairment.
Eur J Paediatr Neurol
; 18(6): 677-84, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24912731
19.
Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain.
Front Neurosci
; 8: 394, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25538548
20.
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
JAMA Ophthalmol
; 132(8): 1002-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830548