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1.
Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.
Genet Mol Biol
; 44(2): e20200393, 2021.
Article
in English
| MEDLINE | ID: mdl-33877262
2.
Genetic deletion of the alamandine receptor MRGD leads to dilated cardiomyopathy in mice.
Am J Physiol Heart Circ Physiol
; 316(1): H123-H133, 2019 01 01.
Article
in English
| MEDLINE | ID: mdl-30339496
3.
Letter by Linhares et al Regarding Article, "Cardiomyopathy and Preeclampsia: Shared Genetics?"
Circulation
; 139(22): e1013-e1014, 2019 05 28.
Article
in English
| MEDLINE | ID: mdl-31136222
4.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Article
in English
| MEDLINE | ID: mdl-36307226
5.
Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of GDF15.
Pharmacogenomics
; 21(8): 509-520, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32427048
6.
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.
Biol Sex Differ
; 9(1): 10, 2018 02 20.
Article
in English
| MEDLINE | ID: mdl-29463315
7.
Familial STAG2 germline mutation defines a new human cohesinopathy.
NPJ Genom Med
; 2: 7, 2017.
Article
in English
| MEDLINE | ID: mdl-29263825
8.
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.
Meta Gene
; 9: 185-90, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27617217
9.
Candidate genes identified by whole-exome sequencing in preeclampsia families: insights into functional annotation and in-silico prediction of deleterious variants.
J Hypertens
; 38(2): 372-374, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31913954
10.
Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.
Eur J Med Genet
; 58(5): 310-8, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25817395
11.
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
Eur J Med Genet
; 57(11-12): 643-8, 2014.
Article
in English
| MEDLINE | ID: mdl-25241110
12.
Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene.
Meta Gene
; 2: 16-24, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25606385
13.
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
Eur J Med Genet
; 61(2): 106, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28223207
14.
Familial STAG2 germline mutation defines a new human cohesinopathy.
Article
in English
| ARCA | ID: arc-25272
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