Tamar Harel

Also affiliated with Hadassah Medical Center

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay”.

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Clinical Genetics(2023)10.1111/cge.14335

N/A

0.396DataRank · unranked

13 citations

Emuna Paz‐Ebstein, Shira Yanovsky‐Dagan, Abbe Lai, Hagar Mor‐Shaked, Tal Gilboa +5 more

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Human Molecular Genetics(2020)10.1093/hmg/ddaa073

N/A

0DataRank · unranked

19 citations

John N. Griffin, Thomas Arbogast, Tanner O. Monroe, Flavia Palombo, Marcella Martinelli +5 more

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555

N/A

0DataRank · unranked

1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006

N/A

0DataRank · unranked

0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 more

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

Journal of Clinical Investigation(2022)10.1172/jci147301

N/A

0DataRank · unranked

42 citations

Satpal S. Jhujh, Srijita Dhar, Joshua A. Sommers, Arindam Datta, Gabriel M. C. Longo +19 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.105012

N/A

0DataRank · unranked

17 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease

Ageing Research Reviews(2023)10.1016/j.arr.2023.101887

N/A

0DataRank · unranked

5 citations

Joshua A. Sommers, Satpal S. Jhujh, Tamar Harel, Grant S. Stewart, Robert M. Brosh +1 more

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532669

N/A

0DataRank · unranked

4 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life Science Alliance(2024)10.26508/lsa.202302258

N/A

0DataRank · unranked

7 citations

Maya Slovik, Yuling Zhang, Bingyu Liu, Martin L. Rennie, Emily Konz +24 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Genetics in Medicine(2025)10.1016/j.gim.2025.101569

N/A

0DataRank · unranked

0 citations

Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Dürr, Jean‐Madeleine de Sainte Agathe +15 more

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature Communications(2020)10.1038/s41467-020-18327-6

N/A

0DataRank · unranked

101 citations

Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar +23 more

Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.23.684255

N/A

0DataRank · unranked

0 citations

Yohan Park, Anel LaGrone, Milovan Šuvakov, Ping Zhang, Hyekyung Park +7 more