Detalhe da pesquisa
1.
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Hum Mol Genet
; 31(3): 399-409, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494111
2.
Recent advances in Alzheimer disease genetics.
Curr Opin Neurol
; 37(2): 154-165, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38235704
3.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
4.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genet Med
; 26(5): 101082, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281098
5.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
6.
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Hum Genet
; 142(1): 125-138, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36138164
7.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
9.
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Blood
; 137(26): 3660-3669, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763700
10.
Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.
Int J Mol Sci
; 24(17)2023 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686296
11.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
12.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
13.
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
J Biol Chem
; 297(2): 100972, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34280433
14.
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Am J Hum Genet
; 104(2): 341-347, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712775
15.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
16.
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.
Blood
; 135(6): 441-448, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31826245
17.
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.
J Biol Chem
; 295(28): 9366-9378, 2020 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393577
18.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Acta Neuropathol
; 142(2): 259-278, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095977
19.
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Mov Disord
; 36(11): 2468-2480, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34432325
20.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043868