Detalhe da pesquisa
1.
Swarm Learning for decentralized and confidential clinical machine learning.
Nature
; 594(7862): 265-270, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040261
2.
HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types.
Mol Cell
; 70(4): 730-744.e6, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706538
3.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; 26(7): 101143, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641995
4.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain
; 146(4): 1342-1356, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226386
5.
Genomic ALK alterations in primary and relapsed neuroblastoma.
Br J Cancer
; 128(8): 1559-1571, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807339
6.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Hum Genet
; 142(4): 543-552, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943452
7.
Identification of pathogenic variant enriched regions across genes and gene families.
Genome Res
; 30(1): 62-71, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871067
8.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
J Hum Genet
; 68(9): 607-613, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106064
9.
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.
Clin Genet
; 104(2): 266-268, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843528
10.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
11.
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.
Acta Neuropathol
; 145(6): 815-827, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973520
12.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759269
13.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172529
14.
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
J Med Genet
; 59(3): 248-252, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273034
15.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554502
16.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
17.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35536377
18.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
19.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
20.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583550