Detalhe da pesquisa
1.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Hum Mol Genet
; 32(19): 2857-2871, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369021
2.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet
; 32(3): 386-401, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981081
3.
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Genet Med
; : 101169, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38785164
4.
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clin Genet
; 105(5): 523-532, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247296
5.
Assessing the feasibility of using the ketogenic diet in autism spectrum disorder.
J Hum Nutr Diet
; 36(4): 1303-1315, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478324
6.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
7.
Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Dev Med Child Neurol
; 64(6): 723-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092695
8.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
BMC Neurol
; 21(1): 358, 2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530748
9.
Genetic testing in individuals with cerebral palsy.
Dev Med Child Neurol
; 63(12): 1448-1455, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114234
10.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Am J Hum Genet
; 99(3): 728-734, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545675
11.
Prevalence of Seizures in Pediatric Extracorporeal Membrane Oxygenation Patients as Measured by Continuous Electroencephalography.
Pediatr Crit Care Med
; 19(12): 1162-1167, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247227
12.
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
Am J Med Genet A
; 188(2): 668-671, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719854
13.
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Genes (Basel)
; 14(6)2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372334
14.
3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.
Genes (Basel)
; 14(9)2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761828
15.
Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy.
JAMA Netw Open
; 6(4): e237396, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37036706
16.
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
J Neurodev Disord
; 14(1): 40, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761184
17.
Cerebral Palsy in Child Neurology and Neurodevelopmental Disabilities Training: An Unmet Need.
J Child Neurol
; 37(3): 194-201, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037781
18.
Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection.
JAMA Pediatr
; 176(6): e215563, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34982107
19.
Deliberate paradigm shift in research in rare neurodevelopmental disorders.
Orphanet J Rare Dis
; 16(1): 263, 2021 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107995
20.
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Res Dev Disabil
; 119: 104110, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794115