Detalhe da pesquisa
1.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865086
2.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
3.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
4.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
5.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
6.
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
J Hum Genet
; 69(1): 53-58, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697026
7.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
8.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
9.
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
BMC Pediatr
; 24(1): 271, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664677
10.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
11.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Am J Hum Genet
; 107(3): 555-563, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758449
12.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422718
13.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
14.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
15.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
16.
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Cancer Control
; 30: 10732748221144930, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598023
17.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982611
18.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
19.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575217
20.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Am J Med Genet A
; 188(9): 2796-2802, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689525