Detalhe da pesquisa
1.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Nature
; 538(7624): 201-206, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27654912
2.
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Mol Genet Genomics
; 296(3): 653-663, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694043
3.
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Am J Med Genet A
; 185(11): 3390-3400, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435747
4.
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Genet Med
; 22(3): 646-653, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624327
5.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616942
6.
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Hum Mutat
; 40(11): e1-e23, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209999
7.
Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families.
Am J Hum Genet
; 99(1): 163-73, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392075
8.
Reconstructing the demographic history of the Himalayan and adjoining populations.
Hum Genet
; 137(2): 129-139, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356938
9.
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.
Hum Hered
; 82(3-4): 87-102, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28910803
10.
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
Genet Res (Camb)
; 98: e8, 2016 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173948
11.
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
Genet Res (Camb)
; 98: e10, 2016 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265430
12.
The genome-wide structure of the Jewish people.
Nature
; 466(7303): 238-42, 2010 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20531471
13.
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Hum Mutat
; 36(4): 439-42, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645515
14.
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Hum Genet
; 134(3): 305-14, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25560765
15.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Hum Genet
; 134(6): 577-87, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792360
16.
The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times.
Am J Hum Genet
; 90(3): 486-93, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22365151
17.
A "Copernican" reassessment of the human mitochondrial DNA tree from its root.
Am J Hum Genet
; 90(4): 675-84, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482806
18.
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
J Lipid Res
; 55(2): 307-12, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262094
19.
The Caucasus as an asymmetric semipermeable barrier to ancient human migrations.
Mol Biol Evol
; 29(1): 359-65, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21917723
20.
Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture.
Am J Hum Genet
; 86(4): 611-20, 2010 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346436