Detalhe da pesquisa
1.
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Nat Rev Genet
; 2024 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38467784
2.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Genet Med
; 26(2): 101033, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38007624
3.
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Genet Med
; 26(4): 101069, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38205742
4.
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis.
Genet Med
; 25(2): 100324, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36565307
5.
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Hum Mol Genet
; 29(19): 3266-3284, 2020 11 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32969477
6.
The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit.
Genet Med
; 24(8): 1675-1683, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35622065
7.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35674741
8.
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Mol Genet Metab
; 137(4): 399-419, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34872807
9.
After genomic testing results: Parents' long-term views.
J Genet Couns
; 31(1): 82-95, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34165210
10.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34213677
11.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34012067
12.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Am J Hum Genet
; 101(1): 65-74, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28669405
13.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29220674
14.
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genet Med
; 22(9): 1437-1449, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32576987
15.
Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genet Med
; 22(9): 1570, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32651549
16.
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.
Genet Med
; 22(2): 292-300, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31462755
17.
Renpenning syndrome in a female.
Am J Med Genet A
; 182(3): 498-503, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31840929
18.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27276562
19.
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Genet Med
; 21(2): 498-504, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29895853
20.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab
; 127(4): 368-372, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31311714