Detalhe da pesquisa
1.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Am J Hum Genet
; 110(1): 71-91, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493769
2.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Genet Epidemiol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634654
3.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882526
4.
Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research.
BMC Public Health
; 24(1): 507, 2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365612
5.
Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.
PLoS Genet
; 17(7): e1009584, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242216
6.
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.
Genet Epidemiol
; 46(3-4): 182-198, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191549
7.
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
Hum Genet
; 142(10): 1531-1541, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676273
8.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Am J Hum Genet
; 107(1): 124-136, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32574564
9.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med
; 25(10): 100918, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330696
10.
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Am J Med Genet A
; 191(10): 2558-2570, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350193
11.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
12.
FAT4 identified as a potential modifier of orofacial cleft laterality.
Genet Epidemiol
; 45(7): 721-735, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34130359
13.
SPECC1L regulates palate development downstream of IRF6.
Hum Mol Genet
; 29(5): 845-858, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943082
14.
Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression.
Pediatr Res
; 91(4): 903-911, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837257
15.
Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
Oral Dis
; 28(7): 1921-1935, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061439
16.
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
Cleft Palate Craniofac J
; 59(7): 841-851, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382870
17.
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; : 10556656221135926, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384317
18.
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders.
Genesis
; 59(1-2): e23394, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918369
19.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Am J Hum Genet
; 102(6): 1143-1157, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805042
20.
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
PLoS Genet
; 14(9): e1007673, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30212495