Detalhe da pesquisa
1.
Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories.
Proc Natl Acad Sci U S A
; 120(7): e2201076120, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749728
2.
Plasmodium falciparum hydroxymethylbilane synthase does not house any cosynthase activity within the haem biosynthetic pathway.
Microbiology (Reading)
; 167(10)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34661520
3.
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.
Am J Med Genet A
; 185(11): 3259-3265, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169650
4.
Draft de novo Genome Assembly of the Elusive Jaguarundi, Puma yagouaroundi.
J Hered
; 112(6): 540-548, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34146095
5.
OMIM.org: leveraging knowledge across phenotype-gene relationships.
Nucleic Acids Res
; 47(D1): D1038-D1043, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445645
6.
Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.
Genet Epidemiol
; 43(1): 37-49, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30246882
7.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
8.
Detection of de novo copy number deletions from targeted sequencing of trios.
Bioinformatics
; 35(4): 571-578, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084993
9.
Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis.
Am J Hum Genet
; 98(4): 709-27, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058444
10.
Response to Biesecker et al.
Am J Hum Genet
; 108(9): 1807-1808, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478655
11.
Heavy Enzymes and the Rational Redesign of Protein Catalysts.
Chembiochem
; 20(22): 2807-2812, 2019 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31016852
12.
Crystal Structure and Biophysical Analysis of Furfural-Detoxifying Aldehyde Reductase from Clostridium beijerinckii.
Appl Environ Microbiol
; 85(15)2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101612
13.
Whole exome association of rare deletions in multiplex oral cleft families.
Genet Epidemiol
; 41(1): 61-69, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27910131
14.
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Am J Hum Genet
; 96(3): 397-411, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704602
15.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
16.
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Nucleic Acids Res
; 43(Database issue): D789-98, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428349
17.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Genet Med
; 18(12): 1258-1268, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124788
18.
The genes of OMIM: A legacy of Victor McKusick.
Am J Med Genet A
; 185(11): 3276-3283, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214258
19.
A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.
Birth Defects Res A Clin Mol Teratol
; 103(4): 276-83, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25776870
20.
Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.
Birth Defects Res A Clin Mol Teratol
; 103(10): 857-62, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278207