Detalhe da pesquisa
1.
Sequential tumor molecular profiling identifies likely germline variants.
Genet Med
; 26(3): 101037, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054407
2.
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.
Haematologica
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618681
3.
Development of an effective single-chain variable fragment recognizing a novel epitope in the hepatitis C virus E2 protein that restricts virus entry into hepatocytes.
Arch Virol
; 169(5): 112, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38683226
4.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
5.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Hum Mutat
; 43(8): 1097-1113, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837432
6.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Hum Mutat
; 43(7): 950-962, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419889
7.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Hematol Oncol
; 40(3): 475-478, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613340
8.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
9.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1399-1415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927380
10.
An Epidemiological Case Control Multi-centre Trial on Cerebral Venous Sinus Thrombosis in Western Maharashtra, India.
J Assoc Physicians India
; 69(9): 11-12, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585885
11.
In-silico identification of small molecules targeting H-Ras and in-vitro cytotoxicity with caspase-mediated apoptosis in carcinoma cells.
J Cell Biochem
; 120(4): 5519-5530, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30367521
12.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915382
13.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097611
14.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907798
15.
Ultrafast carrier dynamics in 2D-2D hybrid structures of functionalized GO and CdSe nanoplatelets.
Phys Chem Chem Phys
; 21(28): 15568-15575, 2019 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31265037
16.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
17.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
J Hum Genet
; 63(3): 349-356, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279609
18.
Identification of a novel epitope in the C terminus of hepatitis C virus-E2 protein that induces potent and cross-reactive neutralizing antibodies.
J Gen Virol
; 98(5): 962-976, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28221101
19.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
20.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861