Detalhe da pesquisa
1.
A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features.
Mod Pathol
; 36(3): 100068, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788103
2.
Association of Clonal Hematopoiesis of Indeterminate Potential with Worse Kidney Function and Anemia in Two Cohorts of Patients with Advanced Chronic Kidney Disease.
J Am Soc Nephrol
; 33(5): 985-995, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197325
3.
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.
J Hum Genet
; 65(3): 287-296, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827253
4.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
5.
Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.
Fetal Diagn Ther
; 42(4): 302-310, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28511174
6.
Neutrophil-mediated innate immune resistance to bacterial pneumonia is dependent on Tet2 function.
J Clin Invest
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573824
7.
Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH.
medRxiv
; 2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234783
8.
Assessing the relationship between adverse pregnancy outcomes and area-level deprivation in Wales 2014-2019: a national population-based cross-sectional study.
BMJ Open
; 11(11): e052330, 2021 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789495
9.
Socioeconomic inequalities and adverse pregnancy outcomes in the UK and Republic of Ireland: a systematic review and meta-analysis.
BMJ Open
; 11(3): e042753, 2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33722867
10.
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321736
11.
U2AF1 S34/Q157 Variants Detected in cis Arise Sequentially in an MDS Patient With Serial Sequencing Spanning 18 Years.
Hemasphere
; 6(10): e779, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36168520
12.
Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development.
Sci Rep
; 7(1): 8735, 2017 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821725
13.
Comorbid and inflammatory characteristics of genetic subtypes of clonal hematopoiesis.
Blood Adv
; 3(16): 2482-2486, 2019 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31434682