Detalhe da pesquisa
1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691166
2.
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.
Lancet
; 401(10374): 347-356, 2023 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739136
3.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
4.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
5.
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a "virtual patient".
Genet Med
; 24(6): 1306-1315, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35389343
6.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clin Genet
; 101(2): 149-160, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297364
7.
Analysis of laboratory reporting practices using a quality assessment of a virtual patient.
Genet Med
; 23(3): 562-570, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33122805
8.
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
J Med Genet
; 57(6): 414-421, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005695
9.
Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.
Pharmacogenet Genomics
; 30(6): 131-144, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317559
10.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
Am J Hum Genet
; 98(5): 1020-1029, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153398
11.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
12.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
13.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
J Med Genet
; 55(7): 469-478, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29563141
14.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
15.
Next-generation diagnostics: gene panel, exome, or whole genome?
Hum Mutat
; 36(6): 648-55, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772376
16.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Hum Mutat
; 34(5): 706-13, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418007
17.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Hum Mutat
; 34(11): 1519-28, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929686
18.
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Am J Med Genet A
; 161A(5): 973-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494849
19.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 388-403, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533028
20.
Technologies for Pharmacogenomics: A Review.
Genes (Basel)
; 11(12)2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33291630