Detalhe da pesquisa
1.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35979925
2.
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Am J Med Genet A
; 188(12): 3563-3566, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36135319
3.
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Am J Med Genet A
; 185(8): 2561-2571, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34008892
4.
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Gynecol Endocrinol
; 37(4): 377-381, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33356667
5.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38678163
6.
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.
Children (Basel)
; 10(11)2023 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38002903
7.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel)
; 14(7)2023 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37510394
8.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Expert Rev Mol Diagn
; 23(11): 999-1010, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37754746
9.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn
; 23(1): 85-103, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36714946
10.
Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene.
Menopause
; 29(4): 491-495, 2022 01 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35013061