Detalhe da pesquisa
1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38772379
2.
Dodecyl creatine ester therapy: from promise to reality.
Cell Mol Life Sci
; 81(1): 186, 2024 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38632116
3.
Next generation of free? Points to consider when navigating sponsored genetic testing.
J Med Genet
; 61(4): 299-304, 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37932018
4.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924259
5.
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Mol Genet Metab
; 142(1): 108362, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38452609
6.
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.
Am J Med Genet A
; : e63595, 2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38549495
7.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38499966
8.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38216926
9.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32442410
10.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
11.
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Am J Med Genet A
; 191(2): 510-517, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36401557
12.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36214804
13.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34652821
14.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34188164
15.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34113002
16.
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
17.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord
; 36(6): 1342-1352, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33200489
18.
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.
Am J Med Genet A
; 185(4): 1091-1097, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33442927
19.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33443316
20.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34245036