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Genetics
Israel
2026

D-Index & Metrics

Genetics

D-Index
79
Citations
18590
World Ranking
1652
National Ranking
10

Research.com Recognitions

  • 2026 - Research.com Genetics in Israel Leader Award
  • 2025 - Research.com Genetics in Israel Leader Award
  • 2024 - Research.com Genetics in Israel Leader Award
  • 2023 - Research.com Genetics in Israel Leader Award

Overview

Orly Elpeleg is affiliated with the Hebrew University of Jerusalem in Israel and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and medicine. Their scholarly output includes 106 publications in these domains, with notable focus on molecular biology, genetics, cell biology, immunology, and pediatrics, perinatology, and child health.

The scientist's research addresses a range of topics, notably genomics and rare diseases, genetics and neurodevelopmental disorders, RNA modifications and cancer, prenatal screening and diagnostics, cellular transport and secretion, ubiquitin and proteasome pathways, and cancer-related gene regulation.

Elpeleg's frequent coauthors include Tamar Harel, Hagar Mor-Shaked, Vardiella Meiner, Simon Edvardson, and Bassam Abu-Libdeh, reflecting ongoing collaborative research activities.

The following are selected recent papers illustrating key themes and publications venues within their work:

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders, 2021, Genome Medicine
  • CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module, 2020, Nature Communications
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction, 2021, The American Journal of Human Genetics
  • Nociception and pain in humans lacking a functional TRPV1 channel, 2022, Journal of Clinical Investigation
  • A mutation in POLR3E impairs antiviral immune response and RNA polymerase III, 2020, Proceedings of the National Academy of Sciences

Elpeleg often publishes in venues such as bioRxiv (Cold Spring Harbor Laboratory), European Journal of Human Genetics, The American Journal of Human Genetics, Journal of Clinical Investigation, and Clinical Genetics. These journals reflect their intersectional expertise across genetics, molecular biology, and clinical research.

Best Publications

  • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

    Ann Saada;Avraham Shaag;Hanna Mandel;Yoram Nevo

  • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

    Hanna Mandel;Raymonde Szargel;Valentina Labay;Orly Elpeleg

  • Deleterious Mutation in the Mitochondrial Arginyl-Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

    Simon Edvardson;Avraham Shaag;Olga Kolesnikova;John Moshe Gomori

  • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

    Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz

  • A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

    Simon Edvardson;Yuval Cinnamon;Asaf Ta-Shma;Avraham Shaag

  • Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

    Lambert van den Heuvel;Wim Ruitenbeek;Roel Smeets;Zully Gelman-Kohan

  • A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

    Aleix Navarro-Sastre;Frederic Tort;Oliver Stehling;Marta A. Uzarska

  • Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

    Chaya Miller;Ann Saada;Nava Shaul;Naama Shabtai

  • Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

    Avraham Zeharia;Avraham Shaag;Orit Pappo;Anne-Marie Mager-Heckel

  • Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

    Avraham Zeharia;Avraham Zeharia;Avraham Shaag;Riekelt H. Houtkooper;Tareq Hindi

  • Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

    Loeffen J;Elpeleg O;Smeitink J;Smeets R

  • Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

    Yair Anikster;Robert Kleta;Avraham Shaag;William A. Gahl

  • Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

    Yaniv Erlich;Simon Edvardson;Emily Hodges;Shamir Zenvirt

  • Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

    Ruth Belostotsky;Efrat Ben-Shalom;Efrat Ben-Shalom;Choni Rinat;Choni Rinat;Rachel Becker-Cohen;Rachel Becker-Cohen

  • Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

    Jan A.M. Smeitink;Orly Elpeleg;Hana Antonicka;Heleen Diepstra

  • Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

    Simon Edvardson;Hiroko Hama;Avraham Shaag;John Moshe Gomori

  • Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

    Karsten Bork Nielsen;Suzette Sørensen;Luca Cartegni;Thomas Juhl Corydon

  • The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

    Vered Molho-Pessach;Israela Lerer;Dvorah Abeliovich;Ziad Agha

  • Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

    Stephen I. Goodman;Donna E. Stein;Sudha Schlesinger;Ernst Christensen

  • C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

    Ann Saada;Simon Edvardson;Matan Rapoport;Avraham Shaag

Frequent Co-Authors

Avraham Shaag
Avraham Shaag Hebrew University of Jerusalem
Ann Saada
Ann Saada Hebrew University of Jerusalem
Hanna Mandel
Hanna Mandel Rambam Health Care Campus
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Rita Horvath
Rita Horvath University of Cambridge
Niels Gregersen
Niels Gregersen Aarhus University Hospital

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