Detalhe da pesquisa
1.
Exonic splicing code and coordination of divalent metals in proteins.
Nucleic Acids Res
; 52(3): 1090-1106, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38055834
2.
Exonic splicing code and protein binding sites for calcium.
Nucleic Acids Res
; 50(10): 5493-5512, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474482
3.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet
; 140(4): 593-607, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095315
4.
Sequencing era methods for identifying signatures of selection in the genome.
Brief Bioinform
; 20(6): 1997-2008, 2019 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053138
5.
Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.
Brief Bioinform
; 20(1): 267-273, 2019 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968721
6.
Linkage disequilibrium maps to guide contig ordering for genome assembly.
Bioinformatics
; 35(4): 541-545, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30101310
7.
Gene-dense autosomal chromosomes show evidence for increased selection.
Heredity (Edinb)
; 123(6): 774-783, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31576017
8.
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
BMC Nephrol
; 19(1): 301, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376835
9.
Exome sequence read depth methods for identifying copy number changes.
Brief Bioinform
; 16(3): 380-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25169955
10.
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
J Med Genet
; 53(11): 735-742, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27418539
11.
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Nephrol Dial Transplant
; 31(6): 961-70, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26346198
12.
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.
BMC Genomics
; 16: 666, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26335686
13.
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.
J Allergy Clin Immunol
; 141(4): 1479-1482.e6, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29225085
14.
Rapid identification of Saccharomyces eubayanus and its hybrids.
FEMS Yeast Res
; 13(2): 156-61, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23110474
15.
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests.
Eur J Med Genet
; 66(2): 104679, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36539179
16.
Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells.
Clin Epigenetics
; 15(1): 167, 2023 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37858275
17.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
ERJ Open Res
; 9(2)2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077557
18.
Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.
Clin Immunol
; 171: 38-40, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444043
19.
Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
Sci Rep
; 10(1): 3235, 2020 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094380
20.
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Nat Commun
; 11(1): 179, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924766