Medhat Mahmoud
Baylor College of Medicine
H-index: 15
North America-United States
Top articles of Medhat Mahmoud
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Detection of mosaic and population-level structural variants with Sniffles2 | Nature biotechnology | Moritz Smolka Luis F Paulin Christopher M Grochowski Dominic W Horner Medhat Mahmoud | 2024/1/2 |
Corrections & amendments | Lei Yu Marina Khachaturyan Michael Matschiner Adam Healey Diane Bauer | 2023 | |
Closing the gap: Solving complex medically relevant genes at scale | medRxiv | Medhat Mahmoud John Harting Holly Corbitt Xiao Chen Shalini Jhangiani | 2024 |
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions | J Eisfeldt J Bengtsson MY Lun CM Grochowski M Mahmoud | 2024/4/24 | |
Utility of long-read sequencing for All of Us | Nature communications | Medhat Mahmoud Yongqing Huang Kiran Garimella Peter A Audano Wan Wan | 2024/1/29 |
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures | bioRxiv | Christopher M Grochowski Jesse D Bengtsson Haowei Du Mira Gandhi Ming Yin Lun | 2023 |
Genome‐wide analysis of structural variants in Parkinson disease | Annals of neurology | Kimberley J Billingsley Jinhui Ding Pilar Alvarez Jerez Anastasia Illarionova Kristin Levine | 2023/5 |
MethPhaser: methylation-based haplotype phasing of human genomes | bioRxiv | Yilei Fu Sergey Aganezov Medhat Mahmoud John Beaulaurier Sissel Juul | 2023 |
Identification of allele-specific KIV-2 repeats and impact on Lp (a) measurements for cardiovascular disease risk | bioRxiv | S Behera JR Belyeu X Chen LF Paulin NQH Nguyen | 2023/4/27 |
Intratumoral heterogeneity and clonal evolution induced by HPV integration | Nature communications | Bojan Losic Amanda J Craig Carlos Villacorta-Martin Sebastiao N Martins-Filho Nicholas Akers | 2020/1/15 |
Genomic variant benchmark: if you cannot measure it, you cannot improve it | Sina Majidian Daniel Paiva Agustinho Chen-Shan Chin Fritz J Sedlazeck Medhat Mahmoud | 2023/10/5 | |
FixItFelix: improving genomic analysis by fixing reference errors | Genome biology | Sairam Behera Jonathon LeFaive Peter Orchard Medhat Mahmoud Luis F Paulin | 2023/2/21 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica H Wojcik Chloe M Reuter Shruti Marwaha Medhat Mahmoud Michael H Duyzend | 2023/8/3 | |
Benchmarking challenging small variants with linked and long reads | Cell Genomics | Justin Wagner Nathan D Olson Lindsay Harris Ziad Khan Jesse Farek | 2022/5/11 |
Fully resolved assembly of Cryptosporidium parvum | Gigascience | Vipin K Menon Pablo C Okhuysen Cynthia L Chappell Medhat Mahmoud Medhat Mahmoud | 2022 |
Curated variation benchmarks for challenging medically relevant autosomal genes | Nature biotechnology | Justin Wagner Nathan D Olson Lindsay Harris Jennifer McDaniel Haoyu Cheng | 2022/5 |
Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus | GigaScience | R Alan Harris Muthuswamy Raveendran Dustin T Lyfoung Fritz J Sedlazeck Medhat Mahmoud | 2022 |
Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism | Human mutation | Varuna Chander Medhat Mahmoud Jianhong Hu Zain Dardas Christopher M Grochowski | 2022/12 |
Comprehensive structural variant detection: from mosaic to population-level | BioRxiv | Moritz Smolka Luis F Paulin Christopher M Grochowski Dominic W Horner Medhat Mahmoud | 2022/4/5 |
Genome-wide analysis of structural variants in Parkinson’s disease using short-read sequencing data | bioRxiv | Kimberley J Billingsley Jinhui Ding Pilar Alvarez Jerez Anastasia Illarionova Francis P Grenn | 2022/8/22 |
Co-Authors
