Author
Tel Aviv UniversityORCID 0000-0003-4065-7560Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Sapir Margalit, Zuzana Tulpová, Tahir Detinis Zur…·Yuval Ebenstein
The paper compares optical genome mapping and nanopore sequencing for structural and epigenetic analysis of a kidney tumor, highlighting their strengths in variant detection and epigenetic profiling.
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal…·Michel Vidaud
The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.
Claudia G. Gonzaga-Jauregui, Alina Kurolap, Lauren Walsh…·Christa Lese Martin
The paper was withdrawn due to lack of full author consent.
Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson
The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.
Zippora Brownstein, Süleyman Gülsüner, Tom Walsh…·Karen B. Avraham
The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.