Search details
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-36074901
2.
Precision medicine in rare diseases: What is next?
J Intern Med
; 294(4): 397-412, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37211972
3.
Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism.
J Pediatr
; 256: 38-43.e3, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36495999
4.
Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits.
Mol Cell Proteomics
; 20: 100065, 2021.
Article
in English
| MEDLINE | ID: mdl-33640490
5.
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Hum Mutat
; 43(6): 708-716, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35192731
6.
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.
Epilepsia
; 63(8): 2096-2107, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35652437
7.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
PLoS Genet
; 15(7): e1008240, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31365523
8.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33502047
9.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32827528
10.
Loqusdb: added value of an observations database of local genomic variation.
BMC Bioinformatics
; 21(1): 273, 2020 Jul 01.
Article
in English
| MEDLINE | ID: mdl-32611382
11.
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Epilepsia
; 61(11): 2486-2499, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32964447
12.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum Mol Genet
; 26(13): 2515-2525, 2017 07 01.
Article
in English
| MEDLINE | ID: mdl-28430993
13.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27545679
14.
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
J Inherit Metab Dis
; 42(5): 1008-1018, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31194895
15.
Adenosine Kinase Deficiency: Report and Review.
Neuropediatrics
; 50(1): 46-50, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30477030
16.
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.
PLoS Genet
; 12(5): e1006028, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27176048
17.
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
Int J Mol Sci
; 20(11)2019 May 29.
Article
in English
| MEDLINE | ID: mdl-31146325
18.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Article
in English
| MEDLINE | ID: mdl-26522469
19.
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
Hum Mol Genet
; 24(23): 6580-7, 2015 Dec 01.
Article
in English
| MEDLINE | ID: mdl-26374844
20.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Am J Hum Genet
; 95(3): 285-93, 2014 Sep 04.
Article
in English
| MEDLINE | ID: mdl-25152457