Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
3.
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Mol Biol Rep
; 51(1): 216, 2024 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281202
4.
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
em Inglês
| MEDLINE | ID: mdl-34008892
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
em Inglês
| MEDLINE | ID: mdl-38678163
6.
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
Mol Syndromol
; 14(3): 225-230, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323200
7.
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Hormones (Athens)
; 22(3): 515-520, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493943
8.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel)
; 14(7)2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510394
9.
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
em Inglês
| MEDLINE | ID: mdl-37754746
10.
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
em Inglês
| MEDLINE | ID: mdl-36714946
11.
Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene.
Menopause
; 29(4): 491-495, 2022 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013061