Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432339
3.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
4.
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Hum Mol Genet
; 27(21): 3710-3719, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085106
5.
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Ann Neurol
; 85(6): 921-926, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937933
6.
Revising the Psychiatric Phenotype of Homocystinuria.
Genet Med
; 21(8): 1827-1831, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643218
7.
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
J Pediatr
; 196: 270-274.e1, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398060
8.
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
9.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
J Neurogenet
; 31(1-2): 30-36, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28460589
10.
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Neurogenetics
; 17(1): 11-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395884
11.
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Hum Genet
; 135(7): 699-705, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27048600
12.
BRAT1 mutations present with a spectrum of clinical severity.
Am J Med Genet A
; 170(9): 2265-73, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282546
13.
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Am J Med Genet A
; 170A(5): 1165-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26887912
14.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655089
15.
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
N Engl J Med
; 367(23): 2226-32, 2012 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23215558
16.
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
BMC Genomics
; 15: 1127, 2014 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516202
17.
New innovations: therapeutic opportunities for intellectual disabilities.
Ann Neurol
; 74(3): 382-90, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038210
18.
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
BMC Med Genet
; 14: 68, 2013 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23815709
19.
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.
Am J Med Genet A
; 173(7): 1988-1991, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28447379
20.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia
; 53(8): e146-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690784