Detalhe da pesquisa
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934770
2.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450031
3.
Generation of a humanized mAce2 and a conditional hACE2 mouse models permissive to SARS-COV-2 infection.
Mamm Genome
; 35(2): 113-121, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488938
4.
Barriers to a successful healthcare transition for individuals with urea cycle disorders.
Mol Genet Metab
; 139(3): 107609, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245377
5.
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
Hum Mol Genet
; 29(13): 2171-2184, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504080
6.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
7.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
8.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961569
9.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Am J Med Genet A
; 185(8): 2315-2324, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949769
10.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
11.
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
12.
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
13.
Osteogenesis imperfecta: advancements in genetics and treatment.
Curr Opin Pediatr
; 31(6): 708-715, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693577
14.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649782
15.
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Mol Genet Metab
; 122(1-2): 60-66, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28693988
16.
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Am J Med Genet A
; 173(10): 2789-2794, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815944
17.
Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.
Am J Med Genet C Semin Med Genet
; 172(4): 367-383, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27813341
18.
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.
Curr Opin Pediatr
; 28(6): 694-699, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27552071
19.
New Face for Chromatin-Related Mesenchymal Modulator: n-CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes.
J Cell Physiol
; 230(9): 2270-80, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25689118
20.
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
medRxiv
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712270