Detalhe da pesquisa
1.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872713
2.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
3.
Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.
Am J Med Genet A
; 191(11): 2716-2722, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642312
4.
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
Am J Med Genet A
; 191(6): 1646-1651, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965156
5.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
6.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clin Genet
; 100(4): 412-429, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216016
7.
Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?
Epilepsy Behav
; 114(Pt A): 107564, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243682
8.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424177
9.
Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia.
J Dev Behav Pediatr
; 45(2): e137-e142, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451868
10.
Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis.
J Pediatr Genet
; 12(3): 246-253, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575649
11.
Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.
IBRO Neurosci Rep
; 15: 218-224, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822516
12.
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant.
Neurol Genet
; 8(4): e200001, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35747618
13.
A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders.
Front Genet
; 13: 901458, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769998
14.
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Mol Genet Genomic Med
; 9(10): e1804, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34528764
15.
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome.
Mol Genet Genomic Med
; 8(6): e1230, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275126
16.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Neuron
; 106(4): 589-606.e6, 2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169171
17.
Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?
J Autism Dev Disord
; 51(1): 371-376, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32405903