Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38181735
2.
Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development.
Development
; 147(21)2020 06 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32467233
3.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36104871
4.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30929741
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38508193
6.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38723631
7.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Hum Mutat
; 42(8): 1066-1078, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34004033
8.
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
Genet Epidemiol
; 44(8): 924-933, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32710482
9.
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
PLoS Genet
; 14(8): e1007501, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30067744
10.
Impact of Maternal Smoking on Nonsyndromic Clefts: Sex-Specific Associations With Side and Laterality.
Cleft Palate Craniofac J
; 58(2): 181-188, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32844678
11.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32065501
12.
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
Hum Mol Genet
; 26(4): 829-842, 2017 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28087736
13.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am J Hum Genet
; 98(4): 755-62, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27018475
14.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31164752
15.
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Am J Med Genet A
; 179(11): 2252-2256, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31373173
16.
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Neuropediatrics
; 50(6): 378-381, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31319422
17.
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.
PLoS Genet
; 12(3): e1005914, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26968009
18.
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Clin Exp Ophthalmol
; 47(6): 779-786, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30977268
19.
Whole exome association of rare deletions in multiplex oral cleft families.
Genet Epidemiol
; 41(1): 61-69, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27910131
20.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS Genet
; 11(3): e1005024, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25763902