Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541188
2.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37947183
3.
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Doc Ophthalmol
; 148(2): 115-120, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38206458
4.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37558402
5.
Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.
Pract Neurol
; 24(1): 56-59, 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38135499
6.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35616428
7.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
; 41(6): 1171-1182, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32112654
8.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28041643
9.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31700164
10.
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.
J Biol Chem
; 293(6): 2041-2052, 2018 02 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29275331
11.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31721432
12.
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genet Med
; 21(10): 2216-2223, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30976099
13.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27005418
14.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
J Med Genet
; 53(8): 536-47, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27073233
15.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27648933
16.
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Nat Genet
; 39(8): 963-5, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17632510
17.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25125236
18.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med
; 16(1): 7, 2024 Jan 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38184646
19.
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Am J Hum Genet
; 86(3): 485-9, 2010 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20206331
20.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Hum Mutat
; 33(1): 64-72, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22045651