Detalhe da pesquisa
1.
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Genet Med
; 26(3): 101035, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059438
2.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
3.
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Epilepsia
; 64(7): e143-e147, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37096745
4.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737950
5.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612693
6.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
7.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
8.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
9.
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Genet Med
; 23(5): 900-908, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473208
10.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
11.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
12.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
13.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
14.
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia
; 61(2): 249-258, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957018
15.
Expansion of the clinical spectrum associated with AARS2-related disorders.
Am J Med Genet A
; 179(8): 1556-1564, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31099476
16.
Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.
J Genet Couns
; 28(2): 304-312, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680845
17.
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.
Hum Mutat
; 39(6): 827-829, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603516
18.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
19.
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Genes (Basel)
; 15(4)2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674358
20.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471090