Detalhe da pesquisa
1.
1000 Genomes Project phase 4: The gift that keeps on giving.
Cell
; 185(18): 3286-3289, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055197
2.
"Iron"ing out hemophagocytosis through PIEZO1.
Cell
; 184(4): 856-858, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606984
3.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Am J Hum Genet
; 110(12): 2103-2111, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924809
4.
High-depth African genomes inform human migration and health.
Nature
; 586(7831): 741-748, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33116287
5.
Five Priorities of African Genomics Research: The Next Frontier.
Annu Rev Genomics Hum Genet
; 23: 499-521, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35576571
6.
Addressing underrepresentation in genomics research through community engagement.
Am J Hum Genet
; 109(9): 1563-1571, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055208
7.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121658
8.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450031
9.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
10.
Pressure-Mediated Reflection Spectroscopy Criterion Validity as a Biomarker of Fruit and Vegetable Intake: A 2-Site Cross-Sectional Study of 4 Racial or Ethnic Groups.
J Nutr
; 152(1): 107-116, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562088
11.
Author Correction: High-depth African genomes inform human migration and health.
Nature
; 592(7856): E26, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846614
12.
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
Am J Hum Genet
; 102(5): 731-743, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706352
13.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961569
14.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
15.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
16.
Biases in arginine codon usage correlate with genetic disease risk.
Genet Med
; 22(8): 1407-1412, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371920
17.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Am J Hum Genet
; 99(4): 886-893, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616478
18.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
19.
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.
Genet Med
; 21(11): 2453-2461, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992551
20.
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
Am J Med Genet A
; 179(10): 2138-2143, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290619