Detalhe da pesquisa
1.
Spatial multiomics map of trophoblast development in early pregnancy.
Nature
; 616(7955): 143-151, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36991123
2.
Genetic and chemotherapeutic influences on germline hypermutation.
Nature
; 605(7910): 503-508, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35545669
3.
Single-cell roadmap of human gonadal development.
Nature
; 607(7919): 540-547, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35794482
4.
Local and systemic responses to SARS-CoV-2 infection in children and adults.
Nature
; 602(7896): 321-327, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34937051
5.
Blood and immune development in human fetal bone marrow and Down syndrome.
Nature
; 598(7880): 327-331, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34588693
6.
Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection.
Eur J Immunol
; 54(1): e2350633, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37799110
7.
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet
; 108(11): 2186-2194, 2021 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34626536
8.
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Genome Res
; 29(7): 1047-1056, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31227601
9.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-30712880
10.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30293990
11.
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Genet Med
; 20(10): 1216-1223, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29323667
12.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet
; 385(9975): 1305-14, 2015 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25529582
13.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Nat Genet
; 38(9): 1032-7, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16906163
14.
Transcriptional signals of transformation in human cancer.
Genome Med
; 16(1): 8, 2024 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38195504
15.
Human skeletal muscle aging atlas.
Nat Aging
; 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38622407
16.
UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.
Hum Mutat
; 34(12): 1650-61, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24000165
17.
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche.
Nat Genet
; 55(1): 66-77, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36543915
18.
A spatial human thymus cell atlas mapped to a continuous tissue axis.
bioRxiv
; 2023 Oct 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37986877
19.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19500772
20.
Precise identification of cancer cells from allelic imbalances in single cell transcriptomes.
Commun Biol
; 5(1): 884, 2022 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36071103