Detalhe da pesquisa
1.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Nature
; 612(7940): 495-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450981
2.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
3.
Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis.
Blood
; 139(23): 3439-3449, 2022 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35349664
4.
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Proc Natl Acad Sci U S A
; 117(25): 14405-14411, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518111
5.
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.
Proc Natl Acad Sci U S A
; 117(1): 552-562, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871193
6.
Pancytopenia and thrombosis defects in zebrafish mutants of Fanconi anemia genes.
Blood Cells Mol Dis
; 93: 102640, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991062
7.
Association of clinical severity with FANCB variant type in Fanconi anemia.
Blood
; 135(18): 1588-1602, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106311
8.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
PLoS Genet
; 14(12): e1007821, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540754
9.
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Hum Mutat
; 41(1): 122-128, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513304
10.
iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.
Proc Natl Acad Sci U S A
; 114(8): 1964-1969, 2017 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167771
11.
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Hum Mutat
; 39(2): 237-254, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098742
12.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat
; 39(1): 69-79, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044765
13.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet
; 54(6): 417-425, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280134
14.
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Cancer
; 123(20): 3943-3954, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678401
15.
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
J Clin Immunol
; 37(5): 445-451, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503715
16.
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
BMC Cancer
; 17(1): 127, 2017 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193203
17.
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Hum Mutat
; 37(5): 465-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841305
18.
A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Gastroenterology
; 149(1): 67-78, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865046
19.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Am J Med Genet A
; 170A(2): 386-391, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26590883
20.
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Blood
; 121(22): e138-48, 2013 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613520