Detalhe da pesquisa
1.
Species-wide genetic incompatibility analysis identifies immune genes as hot spots of deleterious epistasis.
Cell
; 159(6): 1341-51, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25467443
2.
Swarm Learning for decentralized and confidential clinical machine learning.
Nature
; 594(7862): 265-270, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040261
3.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
4.
Transcriptional control of gene expression by microRNAs.
Cell
; 140(1): 111-22, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20085706
5.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734845
6.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
7.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
J Med Genet
; 60(1): 48-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740919
8.
Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse.
Br J Cancer
; 128(11): 2097-2103, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973448
9.
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.
Pancreatology
; 23(8): 957-963, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949771
10.
First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.
Eur J Neurol
; 30(9): 2854-2858, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271829
11.
Chromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinase.
Mol Cell
; 57(3): 506-20, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620562
12.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
13.
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
PLoS Comput Biol
; 17(2): e1007784, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606672
14.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574990
15.
New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.
Am J Med Genet A
; 185(10): 3053-3056, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042264
16.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
17.
PET/MRI and genetic intrapatient heterogeneity in head and neck cancers.
Strahlenther Onkol
; 196(6): 542-551, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32211941
18.
Description of Citrobacter cronae sp. nov., isolated from human rectal swabs and stool samples.
Int J Syst Evol Microbiol
; 70(5): 2998-3003, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375941
19.
Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates.
Nucleic Acids Res
; 46(14): 7022-7039, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29893918
20.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Hum Mutat
; 40(7): 865-878, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026367