Detalhe da pesquisa
1.
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
2.
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
3.
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.
Bioinformatics
; 30(15): 2189-96, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740360
4.
A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Mol Genet Genomic Med
; 11(8): e2179, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070724
5.
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
Mol Genet Genomic Med
; 5(5): 570-579, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944239
6.
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.
Genetics
; 197(3): 1039-44, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24793288
7.
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.
Am J Med Genet A
; 123A(2): 140-7, 2003 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14598337
8.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Am J Hum Genet
; 75(2): 161-73, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15185170