Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38565148
2.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541186
3.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541188
4.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32581362
5.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32499645
6.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32678341
7.
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism.
Genome Res
; 32(11-12): 1967-1980, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36351771
8.
Invasive vs. conservative management of older patients with non-ST-elevation acute coronary syndrome: individual patient data meta-analysis.
Eur Heart J
; 2024 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38596853
9.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38258669
10.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33186545
11.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med
; 25(10): 100918, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37330696
12.
Short-term Changes in Hemoglobin and Changes in Functional Status, Quality of Life and Natriuretic Peptides After Initiation of Dapagliflozin in Heart Failure With Reduced Ejection Fraction.
J Card Fail
; 29(5): 849-854, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36871614
13.
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Nucleic Acids Res
; 49(17): 9686-9695, 2021 09 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34428295
14.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982612
15.
The impact of sex and physical performance on long-term mortality in older patients with myocardial infarction.
BMC Med
; 20(1): 15, 2022 01 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35045843
16.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34906499
17.
Complete versus culprit-only strategy in older MI patients with multivessel disease.
Catheter Cardiovasc Interv
; 99(4): 970-978, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35170844
18.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961568
19.
Complete or Culprit-Only PCI in Older Patients with MI.
N Engl J Med
; 389(20): 1923, 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37966295
20.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33299146