Medhat Mahmoud - Publications, H-index & Citations

Back

Medhat Mahmoud

roxy

25H-index

113Paper Count

5.2KCitation Count

Published Papers 30

Publication Date

14,441 Genomics-Based Validated Automated Comprehensive Clinicopathologic Correlations for Myeloid Neoplasms

Scientific Data

IF6.9

2025-11-19

OAAI

Ahmed Elsafty; Yomna Ahmed; Taher F. Halawa; Shaoguang Li; Dongguang Li; Elena Agranovsky; Ahmed Soliman; Howida Talaat; Mohamed Montaser; Omar Elnady; Deyaa Elnady; Mohamed Mahmoud Moustafa; Nourhan Ibrahim; Maryana Gumenyak; Yasmin Soliman; Samah Ali; Elshaimaa Abdelrahman; Hatem M. S. Alahwal; Ahmed S. Barefah; Ashraf Abdelghany; Sherif Ammar; Nermeen Abdel-Haleem; Osama Abdel-Kareem; Samir N. Shamma; Naglaa Husein; Maha M. Sakr; Heba-Allah E. AbdElrhman; Menatalla Nadim; Hany Girguis; Manal Othman; Ola Soliman; Walaa H. Behery; Lamis Eltoukhy; Heldez A. Mohamed; Aya M. Hassan; Fatma-Elzahraa A. Bebers; Marwa Abdel-Zaher; Sara A. Abbas; Shady Attia; Mohamed A. Saada; Amira S. Eid; Soha E. Khorshed; Khaled Talaat; Mohamed Saad Hamed Mahmoud; Mahmoud M. S. Mahmoud; Ola M. S. Mahmoud; Abdel-Rahman O. Abdel-Kareem; Ahmed K. Talaat; Haitham Heneish; Ibrahim I. Samaha; Mones Safwat; Mohamed K. Talaat; Alaa O. Abdel-Kareem; Hadeel Abdel-Monem; Ramy Abaza; Hazem Abaza; Nora Ahmad; May A. Maarouf; Iman A. Shaheen; Ahmed S. Abdelhafiz; Amera Rabee; Yara M. Montaser

Save

A Hitchhiker's Guide to long-read genomic analysis

GENOME RESEARCH

IF5.5

2025-04-14

PREAI

Mahmoud, Medhat; Agustinho, Daniel P.; Sedlazeck, Fritz J.

Save

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

GENOME RESEARCH

IF5.5

2024-11-01

OAAI

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D.; Lun, Ming Yin; Grochowski, Christopher M.; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A.; Liu, Pengfei; Ek, Marlene; Schuy, Jakob; Ameur, Adam; Dai, Hongzheng; Hwang, James Paul; Sedlazeck, Fritz J.; Bi, Weimin; Marom, Ronit; Wincent, Josephine; Nordgren, Ann; Carvalho, Claudia M. B.; Lindstrand, Anna

Save

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

CELL GENOMICS

IF9

2024-07-01

OAAI

Grochowski, Christopher M.; Bengtsson, Jesse D.; Du, Haowei; Gandhi, Mira; Lun, Ming Yin; Mehaffey, Michele G.; Park, KyungHee; Hoeps, Wolfram; Benito, Eva; Hasenfeld, Patrick; Korbel, Jan O.; Mahmoud, Medhat; Paulin, Luis F.; Jhangiani, Shalini N.; Hwang, James Paul; Bhamidipati, Sravya V.; Muzny, Donna M.; Fatih, Jawid M.; Gibbs, Richard A.; Pendleton, Matthew; Harrington, Eoghan; Juul, Sissel; Lindstrand, Anna; Sedlazeck, Fritz J.; Pehlivan, Davut; Lupski, James R.; Carvalho, Claudia M. B.

Save

MethPhaser: methylation-based long-read haplotype phasing of human genomes

NATURE COMMUNICATIONS

IF15.7

2024-06-22

OAAI

Fu, Yilei; Aganezov, Sergey; Mahmoud, Medhat; Beaulaurier, John; Juul, Sissel; Treangen, Todd J.; Sedlazeck, Fritz J.

Save

Utility of long-read sequencing for All of Us

NATURE COMMUNICATIONS

IF15.7

2024-01-29

OAAI

Mahmoud, M.; Huang, Y.; Garimella, K.; Audano, P. A.; Wan, W.; Prasad, N.; Handsaker, R. E.; Hall, S.; Pionzio, A.; Schatz, M. C.; Talkowski, M. E.; Eichler, E. E.; Levy, S. E.; Sedlazeck, F. J.

Save

Detection of mosaic and population-level structural variants with Sniffles2

NATURE BIOTECHNOLOGY

IF41.7

2024-01-02

OAAI

Smolka, Moritz; Paulin, Luis F.; Grochowski, Christopher M.; Horner, Dominic W.; Mahmoud, Medhat; Behera, Sairam; Kalef-Ezra, Ester; Gandhi, Mira; Hong, Karl; Pehlivan, Davut; Scholz, Sonja W.; Carvalho, Claudia M. B.; Proukakis, Christos; Sedlazeck, Fritz J.

Save

Genomic variant benchmark: if you cannot measure it, you cannot improve it

GENOME BIOLOGY

IF9.4

2023-10-05

OAAI

Majidian, Sina; Agustinho, Daniel Paiva; Chin, Chen-Shan; Sedlazeck, Fritz J.; Mahmoud, Medhat

Save

Beyond the exome: What's next in diagnostic testing for Mendelian conditions

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-08-01

OAAI

Wojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Delot, Emmanuele C.; Jain, Deepti; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, MichaelJ.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.; Sanchis-Juan, A.

Save

FixItFelix: improving genomic analysis by fixing reference errors

GENOME BIOLOGY

IF9.4

2023-02-21

OAAI

Behera, Sairam; LeFaive, Jonathon; Orchard, Peter; Mahmoud, Medhat; Paulin, Luis F.; Farek, Jesse; Soto, Daniela C.; Parker, Stephen C. J.; Smith, Albert V.; Dennis, Megan Y.; Zook, Justin M.; Sedlazeck, Fritz J.

Save

Genome-Wide Analysis of Structural Variants in Parkinson Disease

ANNALS OF NEUROLOGY

IF7.7

2023-02-03

OAAI

Billingsley, Kimberley J.; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P.; Makarious, Mary B.; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth W.; Scholz, Sonja J.; Traynor, Bryan L.; Dalgard, Clifton J.; Ehrlich, Debra; Tanaka, Toshiko; Ferrucci, Luigi G.; Beach, Thomas E.; Serrano, Geidy P.; Quinn, John J.; Bubb, Vivien; Collins, Ryan L.; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison E.; Talkowski, Michael; Casey, Bradford; Cookson, Mark R.; Markham, Androo A.; Nalls, Mike; Mahmoud, Medhat; Sedlazeck, Fritz J.; Blauwendraat, Cornelis; Gibbs, J. Raphael B.; Singleton, Andrew

Save

Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration

CANCER DISCOVERY

IF33.3

2023-01-30

OAAI

Akagi, Keiko; Symer, David E.; Mahmoud, Medhat; Jiang, Bo; Goodwin, Sara; Wangsa, Darawalee; Li, Zhengke; Xiao, Weihong; Dunn, Joe Dan; Ried, Thomas; Coombes, Kevin R.; Sedlazeck, Fritz J.; Gillison, Maura L.

Save

Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism

HUMAN MUTATION

IF3.7

2022-09-24

OAAI

Chander, Varuna; Mahmoud, Medhat; Hu, Jianhong; Dardas, Zain; Grochowski, Christopher M.; Dawood, Moez; Khayat, Michael M.; Li, He; Li, Shoudong; Jhangiani, Shalini; Korchina, Viktoriya; Shen, Hua; Weissenberger, George; Meng, Qingchang; Gingras, Marie-Claude; Muzny, Donna M.; Doddapaneni, Harsha; Posey, Jennifer E.; Lupski, James R.; Sabo, Aniko; Murdock, David R.; Sedlazeck, Fritz J.; Gibbs, Richard A.

Save

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

GIGASCIENCE

IF3.9

2022-05-28

OAAI

Harris, R. Alan; Raveendran, Muthuswamy; Lyfoung, Dustin T.; Sedlazeck, Fritz J.; Mahmoud, Medhat; Prall, Trent M.; Karl, Julie A.; Doddapaneni, Harshavardhan; Meng, Qingchang; Han, Yi; Muzny, Donna; Wiseman, Roger W.; O'Connor, David H.; Rogers, Jeffrey

Save

Benchmarking challenging small variants with linked and long reads

CELL GENOMICS

IF9

2022-05-01

OAAI

Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; Khan, Ziad; Farek, Jesse; Mahmoud, Medhat; Stankovic, Ana; Kovacevic, Vladimir; Yoo, Byunggil; Miller, Neil; Rosenfeld, Jeffrey A.; Ni, Bohan; Zarate, Samantha; Kirsche, Melanie; Aganezov, Sergey; Schatz, Michael C.; Narzisi, Giuseppe; Byrska-Bishop, Marta; Clarke, Wayne; Evani, Uday S.; Markello, Charles; Shafin, Kishwar; Zhou, Xin; Sidow, Arend; Bansal, Vikas; Ebert, Peter; Marschall, Tobias; Lansdorp, Peter; Hanlon, Vincent; Mattsson, Carl-Adam; Barrio, Alvaro Martinez; Fiddes, Ian T.; Xiao, Chunlin; Fungtammasan, Arkarachai; Chin, Chen-Shan; Wenger, Aaron M.; Rowell, William J.; Sedlazeck, Fritz J.; Carroll, Andrew; Salit, Marc; Zook, Justin M.

Save

Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data

NATURE COMMUNICATIONS

IF15.7

2022-03-14

OAAI

Liu, Yunxi; Kearney, Joshua; Mahmoud, Medhat; Kille, Bryce; Sedlazeck, Fritz J.; Treangen, Todd J.

Save

Fully resolved assembly of Cryptosporidium parvum

GIGASCIENCE

IF3.9

2022-02-15

OAAI

Menon, Vipin K.; Okhuysen, Pablo C.; Chappell, Cynthia L.; Mahmoud, Medhat; Mahmoud, Medhat; Meng, Qingchang; Doddapaneni, Harsha; Vee, Vanesa; Han, Yi; Salvi, Sejal; Bhamidipati, Sravya; Kottapalli, Kavya; Weissenberger, George; Shen, Hua; Ross, Matthew C.; Hoffman, Kristi L.; Cregeen, Sara Javornik; Muzny, Donna M.; Metcalf, Ginger A.; Gibbs, Richard A.; Petrosino, Joseph F.; Sedlazeck, Fritz J.

Save

Curated variation benchmarks for challenging medically relevant autosomal genes

NATURE BIOTECHNOLOGY

IF41.7

2022-02-07

OAAI

Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M.; Rowell, William J.; Khan, Ziad M.; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E.; Jaspez, David; Lorenzo-Salazar, Jose M.; Munoz-Barrera, Adrian; Rubio-Rodriguez, Luis A.; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E.; Lee, Joyce; Mason, Christopher E.; Lincoln, Stephen E.; Miga, Karen H.; Ebbert, Mark T. W.; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M.; Sedlazeck, Fritz J.

Save

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study (Sep, 10.1038/s41587-021-01049-5, 2021)

NATURE BIOTECHNOLOGY

IF41.7

2021-10-11

OAAI

Foox, Jonathan; Tighe, Scott W.; Nicolet, Charles M.; Zook, Justin M.; Byrska-Bishop, Marta; Clarke, Wayne E.; Khayat, Michael M.; Mahmoud, Medhat; Laaguiby, Phoebe K.; Herbert, Zachary T.; Warner, Derek; Grills, George S.; Jen, Jin; Levy, Shawn; Xiang, Jenny; Alonso, Alicia; Zhao, Xia; Zhang, Wenwei; Teng, Fei; Zhao, Yonggang; Lu, Haorong; Schroth, Gary P.; Narzisi, Giuseppe; Farmerie, William; Sedlazeck, Fritz J.; Baldwin, Don A.; Mason, Christopher E.

Save

Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

GIGASCIENCE

IF3.9

2021-09-24

OAAI

Fu, Yilei; Mahmoud, Medhat; Muraliraman, Viginesh Vaibhav; Sedlazeck, Fritz J.; Treangen, Todd J.

Save

Research Directions