Suchergebnisse - "Mehta, Nikita"

PubPharm (9)

1

Prevalence and Clinical Implications of Mismatch Repair-Proficient Colorectal Cancer in Patients With Lynch Syndrome

enthalten in: JCO precision oncology | 2023

von Ranganathan, M. | Sacca, R. | Trottier, M. | +27

2

Revision of RUNX1 variant curation rules

enthalten in: Blood advances | 2022

von Feurstein, S. | Luo, X. | Shah, M. | +4

3

Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

enthalten in: Genome medicine | 2022

von Ceyhan-Birsoy, O. | Jayakumaran, G. | Kemel, Y. | +22

4

Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening

enthalten in: Journal of genetic counseling | 2022

von Brown, E. | Grinzaid, K. | Ali, N. | +2

5

A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Feurstein, S. | Hahn, C. | Mehta, N. | +1

6

Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing

enthalten in: European urology oncology | 2021

von Truong, H. | Sheikh, R. | Kotecha, R. | +24

CommentIn: J Urol. 2022 May;207(5):1151-1153. - PMID 35152713

7

Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome

enthalten in: Journal of the National Cancer Institute | 2021

von Ceyhan-Birsoy, O. | Selenica, P. | Chui, M. | +22

CommentIn: J Natl Cancer Inst. 2021 Nov 29;113(12):1615-1617. - PMID 34240211

8

ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome

enthalten in: Cell | 2020

von Licznerski, P. | Park, H. | Rolyan, H. | +18

CommentIn: Mol Cell. 2020 Nov 5;80(3):381-383. - PMID 33157013

9

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort

enthalten in: Molecular genetics & genomic medicine | 2019

von Cecchi, A. | Vengoechea, E. | Kaseniit, K. | +8

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