Detalhe da pesquisa
1.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
2.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
3.
Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
J Med Genet
; 58(8): 547-555, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843488
4.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
5.
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.
Genome Med
; 16(1): 64, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671509
6.
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Genome Med
; 14(1): 77, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869530
7.
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism Relat Disord
; 82: 84-86, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260061
8.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med
; 13(1): 55, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845882
9.
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
J Endocr Soc
; 3(12): 2258-2275, 2019 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737856
10.
X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.
PLoS One
; 9(6): e97746, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24914684