Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
Clan genomics and the complex architecture of human disease.
Cell
; 147(1): 32-43, 2011 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962505
3.
The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape.
Curr Cardiol Rep
; 26(3): 135-146, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277082
4.
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.
Genet Med
; 24(1): 109-118, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906478
5.
Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort.
Cancer
; 127(2): 310-318, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048379
6.
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Am J Med Genet A
; 182(6): 1387-1399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233023
7.
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
J Med Genet
; 56(12): 783-791, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023718
8.
DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study.
Genes Chromosomes Cancer
; 58(1): 52-59, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382603
9.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet
; 98(3): 562-570, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942288
10.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Am J Hum Genet
; 99(4): 886-893, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616478
11.
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Genome Res
; 26(9): 1170-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435932
12.
Estimating the burden and economic impact of pediatric genetic disease.
Genet Med
; 21(8): 1781-1789, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568310
13.
Correction: Estimating the burden and economic impact of pediatric genetic disease.
Genet Med
; 21(9): 2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760893
14.
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.
Genet Med
; 21(11): 2453-2461, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992551
15.
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Genet Med
; 21(7): 1652-1656, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568308
16.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
17.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Am J Med Genet A
; 179(3): 475-479, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569621
18.
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Nucleic Acids Res
; 45(4): 1633-1648, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27980096
19.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hum Mol Genet
; 25(11): 2331-2341, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26965164
20.
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.
Am J Hum Genet
; 97(1): 6-21, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26140447