Detalhe da pesquisa
1.
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
J Lipid Res
; 63(6): 100209, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460704
2.
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Hum Mutat
; 39(1): 167-171, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29067733
3.
DLX4 is associated with orofacial clefting and abnormal jaw development.
Hum Mol Genet
; 24(15): 4340-52, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25954033
4.
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Exp Eye Res
; 146: 163-171, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26995144
5.
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Hum Mol Genet
; 22(4): 696-703, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161670
6.
Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.
Acta Neuropathol
; 137(5): 851-854, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877433
7.
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.
Genomics
; 98(2): 79-89, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565264
8.
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Mol Genet Genomic Med
; 7(12): e1007, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617323
9.
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Am J Ophthalmol Case Rep
; 7: 102-106, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29260090
10.
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Eur J Hum Genet
; 23(3): 337-41, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939590
11.
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Genetics
; 200(4): 1051-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26092718