Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
3.
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
4.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
5.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
6.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212383
7.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040692
8.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
9.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genet Med
; 20(9): 1061-1068, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215649
10.
A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
BMC Med Genet
; 19(1): 90, 2018 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29843636
11.
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Am J Med Genet A
; 176(1): 181-186, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159987
12.
The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.
Prenat Diagn
; 37(10): 975-982, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685502
13.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome Res
; 23(1): 23-33, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034409
14.
Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.
J Pediatr
; 164(5): 1195-200, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518170
15.
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
16.
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Ann Clin Transl Neurol
; 11(2): 251-262, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168508
17.
The Brain Gene Registry: a data snapshot.
J Neurodev Disord
; 16(1): 17, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632549
18.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
medRxiv
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496416
19.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
20.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Hum Mutat
; 34(1): 237-47, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033313