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Genetics

D-Index
58
Citations
9926
World Ranking
3335
National Ranking
33

Overview

Avraham Shaag is affiliated with the Hebrew University of Jerusalem in Israel. Their research primarily focuses on biochemistry, genetics, and molecular biology, with significant contributions in medicine. Shaag's work extends into several specialized subfields, including molecular biology, infectious diseases, genetics, immunology, and clinical biochemistry.

The scientist has addressed a variety of topics such as metabolism and genetic disorders, SARS-CoV-2 and COVID-19 research, mitochondrial function and pathology, SARS-CoV-2 detection and testing, biosensors and analytical detection, biochemical and molecular research, and genetics and neurodevelopmental disorders.

Recent papers by Avraham Shaag include the following:

  • Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection, 2020, Clinical Microbiology and Infection
  • Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within Israel, 2020, Nature Communications
  • Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests, 2021, Science Translational Medicine
  • A mutation in POLR3E impairs antiviral immune response and RNA polymerase III, 2020, Proceedings of the National Academy of Sciences
  • Clues and challenges in the diagnosis of intermittent maple syrup urine disease, 2020, European Journal of Medical Genetics

Frequent co-authors collaborating with Shaag include:

  • Ann Saada
  • Orly Elpeleg
  • Dana G. Wolf
  • Hagar Mor-Shaked
  • Ronen Spiegel

Shaag's work has been published in various venues especially notable for multiple publications in the European Journal of Medical Genetics, Journal of Inherited Metabolic Disease, and American Journal of Medical Genetics Part A. Additional publications have appeared in Clinical Microbiology and Infection and Nature Communications.

Best Publications

  • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

    Ann Saada;Avraham Shaag;Hanna Mandel;Yoram Nevo

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

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

  • 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

  • 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

  • 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 NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

    Ann Saada;Rutger O. Vogel;Saskia J. Hoefs;Mariël A. van den Brand

  • 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

  • C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

    Ann Saada;Simon Edvardson;Matan Rapoport;Avraham Shaag

  • Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

    Ann Saada;Avraham Shaag;Shmuel Arnon;Tzipora Dolfin

  • Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within Israel.

    Danielle Miller;Michael A. Martin;Noam Harel;Omer Tirosh

  • Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

    Simon Edvardson;Yuval Cinnamon;Chaim Jalas;Avraham Shaag

  • CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

    Yoram Nevo;Bruria Ben-Zeev;Adi Tabib;Rachel Straussberg

  • Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

    Avraham Shaag;Tom Walsh;Paul Renbaum;Tomas Kirchhoff

  • Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

    Itai Berger;Eli Hershkovitz;Avraham Shaag;Simon Edvardson

  • An SNX10 mutation causes malignant osteopetrosis of infancy

    Memet Aker;Alex Rouvinski;Saar Hashavia;Asaf Ta-Shma

  • mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

    Ann Saada;Avraham Shaag;Orly Elpeleg;Orly Elpeleg

Frequent Co-Authors

Orly Elpeleg
Orly Elpeleg Hebrew University of Jerusalem
Ann Saada
Ann Saada Hebrew University of Jerusalem
Hanna Mandel
Hanna Mandel Rambam Health Care Campus
Klaus Warnatz
Klaus Warnatz University of Freiburg
Mordechai Shohat
Mordechai Shohat Tel Aviv University
Lars Feuk
Lars Feuk Uppsala University
Sherri J. Bale
Sherri J. Bale OPKO Health (United States)
Gregory J. Hannon
Gregory J. Hannon University of Cambridge
Klaus H. Kaestner
Klaus H. Kaestner University of Pennsylvania
Alexis Brice
Alexis Brice Institut du Cerveau

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