Search details
1.
Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.
Immunity
; 47(1): 93-106.e7, 2017 07 18.
Article
in English
| MEDLINE | ID: mdl-28723556
2.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32220290
3.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36305855
4.
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mol Genet Metab
; 139(3): 107604, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37236006
5.
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Ophthalmology
; 130(12): 1313-1326, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37541626
6.
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
EMBO Rep
; 22(10): e51991, 2021 10 05.
Article
in English
| MEDLINE | ID: mdl-34351705
7.
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
J Inherit Metab Dis
; 46(6): 1159-1169, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37747296
8.
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Int J Mol Sci
; 24(3)2023 Jan 18.
Article
in English
| MEDLINE | ID: mdl-36768204
9.
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
Neurogenetics
; 23(2): 151-156, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35099671
10.
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Neurogenetics
; 23(2): 115-127, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35106698
11.
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
Hum Genet
; 141(3-4): 607-622, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34387732
12.
Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry.
Anal Chem
; 94(37): 12621-12629, 2022 09 20.
Article
in English
| MEDLINE | ID: mdl-36070546
13.
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
Am J Med Genet A
; 188(11): 3229-3235, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35986576
14.
Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.
Immunity
; 48(4): 832-833, 2018 04 17.
Article
in English
| MEDLINE | ID: mdl-29669255
15.
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Ear Hear
; 43(2): 582-591, 2022.
Article
in English
| MEDLINE | ID: mdl-34534157
16.
Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
J Cell Biochem
; 122(10): 1337-1349, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34056752
17.
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
J Inherit Metab Dis
; 44(4): 1021-1038, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33337545
18.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Article
in English
| MEDLINE | ID: mdl-29220678
19.
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(11): 1735-1742, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32741966
20.
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(4): 686-697, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31822849