Concepedia

Hila Romi

HR

5

Publications

205

Citations

5

H-Index

1999

Active since

Affiliations

Ben-Gurion University of the Negev(Current)

Soroka Medical Center

Tel Aviv University

Hila Romi is an author at Ben-Gurion University of the Negev specializing in medicine, systems biology, and pathogenesis.

Top concepts

MedicineGeneticsPathogenesisSystems BiologyBiologyVirologyPathologyImmunologyBiosynthesisCell Biology

Publications per year

1999–2024

5

Publications

5

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

Hila Romi, Idan Cohen, Daniella Landau et al. · The American Journal of Human Genetics · 2012 · 95 citations

Pathogenesis, Gastroenterology, Molecular Biology +3

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII

Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi et al. · The American Journal of Human Genetics · 2010 · 48 citations · Full text

Biology, Biosynthesis, Genetics +3

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3

Yonatan Perez, Shay Menascu, Idan Cohen et al. · Brain · 2018 · 32 citations · Full text

Aberrant Splicing, Genetics, Rsrc1 Mutation +22

Tamplicon-7, a Novel T-Lymphotropic Vector Derived from Human Herpesvirus 7

Hila Romi, Oded Singer, Debora Rapaport et al. · Journal of Virology · 1999 · 19 citations · Full text

Defective Virus Genomes, Viral Replication, Molecular Virology +15

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders

Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh et al. · Human Genetics · 2024 · 11 citations · Full text

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