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
Inglês
| MEDLINE | ID: mdl-37934770
2.
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
J Med Genet
; 2024 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38621993
3.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35121658
4.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37743782
5.
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Prenat Diagn
; 44(2): 247-250, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37596871
6.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33232675
7.
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.
Genet Med
; 25(6): 100830, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36939041
8.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35293990
9.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36317458
10.
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
Inglês
| MEDLINE | ID: mdl-34906496
11.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35194938
12.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35396900
13.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clin Genet
; 100(2): 227-233, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33963760
14.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Am J Med Genet A
; 185(8): 2315-2324, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33949769
15.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32576985
16.
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Am J Med Genet A
; 182(11): 2751-2754, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32885560
17.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29282788
18.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Mol Genet Metab
; 125(3): 281-291, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30177229
19.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28940506
20.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31216405