Detalhe da pesquisa
1.
Genetic and chemotherapeutic influences on germline hypermutation.
Nature
; 605(7910): 503-508, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545669
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
3.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096951
4.
De novo mutations in regulatory elements in neurodevelopmental disorders.
Nature
; 555(7698): 611-616, 2018 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562236
5.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
6.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
7.
Impact of Parental Illness and Injury on Pediatric Disorders of Gut-Brain Interaction.
J Pediatr
; 236: 148-156.e3, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991543
8.
TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed.
EMBO J
; 31(23): 4404-14, 2012 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103767
9.
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders.
Nat Commun
; 11(1): 3920, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764605
10.
Contribution of retrotransposition to developmental disorders.
Nat Commun
; 10(1): 4630, 2019 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604926
11.
Quantifying the contribution of recessive coding variation to developmental disorders.
Science
; 362(6419): 1161-1164, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409806
12.
Towards programming immune tolerance through geometric manipulation of phosphatidylserine.
Biomaterials
; 72: 1-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26325217