Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
2.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495270
3.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159883
4.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
5.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
6.
Terroir Influence on Polyphenol Metabolism from Grape Canes: A Spatial Metabolomic Study at Parcel Scale.
Molecules
; 28(11)2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37299031
7.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
8.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
9.
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Clin Genet
; 101(3): 364-370, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904221
10.
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Neurogenetics
; 22(3): 195-206, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132911
11.
Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group.
Hematol Oncol
; 38(4): 446-455, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472610
12.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
13.
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Cytogenet Genome Res
; 159(4): 201-207, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865337
14.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
15.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
16.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
17.
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Am J Med Genet A
; 179(6): 993-1000, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888095
18.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
19.
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
Am J Med Genet A
; 176(7): 1614-1617, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704302
20.
Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma.
Int J Mol Sci
; 19(3)2018 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29494553