Detalhe da pesquisa
1.
Rapid Generation of Somatic Mouse Mosaics with Locus-Specific, Stably Integrated Transgenic Elements.
Cell
; 179(1): 251-267.e24, 2019 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31539496
2.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
3.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
4.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
5.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
6.
An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.
Pediatr Hematol Oncol
; 40(8): 800-806, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334681
7.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
8.
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Epilepsia
; 62(2): e35-e41, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410539
9.
BCL6 promotes glioma and serves as a therapeutic target.
Proc Natl Acad Sci U S A
; 114(15): 3981-3986, 2017 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356518
10.
Phenotypic diversity of patients diagnosed with VACTERL association.
Am J Med Genet A
; 176(9): 1830-1837, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152190
11.
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Mol Genet Metab Rep
; 26: 100700, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437642
12.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736665
13.
Glioma cell proliferation is enhanced in the presence of tumor-derived cilia vesicles.
Cilia
; 7: 6, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410731
14.
A transposon-mediated system for flexible control of transgene expression in stem and progenitor-derived lineages.
Stem Cell Reports
; 4(3): 323-31, 2015 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25702640
15.
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma.
Cell Rep
; 12(2): 258-71, 2015 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26146073
16.
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma.
Cell Rep
; 17(12): 3407, 2016 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28009307