Detalhe da pesquisa
1.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
2.
Rare-variant collapsing analyses for complex traits: guidelines and applications.
Nat Rev Genet
; 20(12): 747-759, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605095
3.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
4.
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
em Inglês
| MEDLINE | ID: mdl-38452609
5.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
6.
Causal Genetic Variants in Stillbirth.
N Engl J Med
; 383(12): 1107-1116, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786180
7.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Mol Psychiatry
; 27(3): 1435-1447, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799694
8.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
; 43(6): 703-716, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959127
9.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med
; 380(2): 142-151, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586318
10.
Impact of pre-emptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study.
Br J Clin Pharmacol
; 88(9): 4163-4170, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419830
11.
Fetal central nervous system anomalies: When should we offer exome sequencing?
Prenat Diagn
; 42(6): 736-743, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411553
12.
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.
Ann Intern Med
; 174(4): 540-547, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460345
13.
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Hum Mutat
; 42(6): 745-761, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942428
14.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113010
15.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
16.
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
J Hum Genet
; 66(3): 339-343, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948840
17.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
18.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
BMC Neurol
; 21(1): 358, 2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530748
19.
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Lancet
; 393(10173): 758-767, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712878
20.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194818