Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35192731
3.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502047
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827528
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430993
6.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
7.
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
Hum Mol Genet
; 24(23): 6580-7, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26374844
8.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084283
9.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495354
10.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Am J Hum Genet
; 89(4): 507-15, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963049
11.
Partial tetrasomy 14 associated with multiple malformations.
Am J Med Genet A
; 161A(6): 1284-90, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613323
12.
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Biochim Biophys Acta Mol Basis Dis
; 1869(7): 166786, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37302426
13.
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
Front Neurol
; 12: 652590, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33841319
14.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Neurol Genet
; 7(2): e566, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732874
15.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
16.
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Neurol Genet
; 6(4): e478, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754646
17.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Stem Cell Reports
; 12(4): 696-711, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827875
18.
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Orphanet J Rare Dis
; 12(1): 73, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28427446
19.
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Eur J Paediatr Neurol
; 20(3): 457-61, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26975589
20.
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nat Commun
; 6: 8038, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333769