Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38325380
2.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
3.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37133451
4.
Genetic architecture of childhood speech disorder: a review.
Mol Psychiatry
; 2024 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38366112
5.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38290825
6.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
7.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38275146
8.
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment.
Mol Genet Metab
; 142(1): 108360, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38428378
9.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36117209
10.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421105
11.
The association between human chorionic gonadotropin and adverse pregnancy outcomes: a systematic review and meta-analysis.
Am J Obstet Gynecol
; 230(2): 118-184, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37572838
12.
Statistical analysis of observational studies in disability research.
Dev Med Child Neurol
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38721699
13.
Causation in cerebral palsy: Parental beliefs and associated emotions.
Dev Med Child Neurol
; 66(2): 258-266, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37415350
14.
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.
Mol Cell
; 64(4): 704-719, 2016 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-27871366
15.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
J Med Genet
; 60(6): 597-607, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36328423
16.
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Am J Med Genet B Neuropsychiatr Genet
; : e32971, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421120
17.
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
Clin Genet
; 103(6): 681-687, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36688272
18.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411967
19.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36349505
20.
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.
Dev Med Child Neurol
; 2023 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38111102