Detalhe da pesquisa
1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
2.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627676
5.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
6.
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Lung
; 202(2): 151-156, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461429
7.
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Proc Natl Acad Sci U S A
; 118(19)2021 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941690
8.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
9.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 21(1): 410, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353797
10.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
11.
Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine
; 162: 156088, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462220
12.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
13.
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Am J Med Genet A
; 188(3): 919-925, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797033
14.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
15.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
16.
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
BMC Med Genet
; 21(1): 219, 2020 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167890
17.
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
BMC Nephrol
; 21(1): 341, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791958
18.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 22(1): 400, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689323
19.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
20.
Establishing a nephrology genetic clinic.
Kidney Int
; 100(2): 254-259, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34294204