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1.
Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.
Haematologica
; 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38450530
2.
Predicting tumour content of liquid biopsies from cell-free DNA.
BMC Bioinformatics
; 24(1): 368, 2023 Sep 30.
Article
in English
| MEDLINE | ID: mdl-37777714
3.
Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.
PLoS Genet
; 16(6): e1008792, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32579612
4.
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas.
Acta Neuropathol
; 146(6): 845-847, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37831210
5.
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Hum Mutat
; 38(11): 1491-1499, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28703315
6.
Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
BMC Genomics
; 18(1): 396, 2017 05 22.
Article
in English
| MEDLINE | ID: mdl-28532386
7.
Diffuse pleural mesotheliomas with genomic near-haploidization: a newly recognized subset with distinct clinical, histologic, and molecular features.
Clin Cancer Res
; 2024 Apr 17.
Article
in English
| MEDLINE | ID: mdl-38630790
8.
Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.
J Thorac Oncol
; 19(3): 409-424, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37838086
9.
Associations Between Cancer Predisposition Mutations and Clonal Hematopoiesis in Patients With Solid Tumors.
JCO Precis Oncol
; 7: e2300070, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37561983
10.
Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.
Clin Cancer Res
; 28(21): 4702-4713, 2022 11 01.
Article
in English
| MEDLINE | ID: mdl-35792876
11.
Matched Molecular Profiling of Cell-Free DNA and Tumor Tissue in Patients With Advanced Clear Cell Renal Cell Carcinoma.
JCO Precis Oncol
; 6: e2200012, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35797508
12.
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Genome Med
; 13(1): 96, 2021 05 31.
Article
in English
| MEDLINE | ID: mdl-34059130
13.
Clonal hematopoiesis is associated with risk of severe Covid-19.
Nat Commun
; 12(1): 5975, 2021 10 13.
Article
in English
| MEDLINE | ID: mdl-34645798
14.
Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS.
Nat Commun
; 12(1): 3770, 2021 06 18.
Article
in English
| MEDLINE | ID: mdl-34145282
15.
Clonal hematopoiesis is associated with risk of severe Covid-19.
medRxiv
; 2020 Nov 27.
Article
in English
| MEDLINE | ID: mdl-33269365
16.
Noninvasive Detection of Microsatellite Instability and High Tumor Mutation Burden in Cancer Patients Treated with PD-1 Blockade.
Clin Cancer Res
; 25(23): 7024-7034, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31506389
17.
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
Gene
; 593(2): 284-91, 2016 Nov 30.
Article
in English
| MEDLINE | ID: mdl-27553520
18.
A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.
Mol Neuropsychiatry
; 2(3): 145-150, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27867939
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