Tamar Harel

ScholarGPS® ID: 72264939043670

Affiliation

Hebrew University of Jerusalem, Jerusalem and Rehovot, Israel

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

1,378

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations (journal article) Yahalom, Claudia \| Anteby, Irene \| Hendler, Karen \| Harel, Tamar \| Eilat, Avital \| Macarov, Michal Graefe's Archive for Clinical and Experimental Ophthalmology (2024). 10.1007/s00417-024-06546-2 Cite \| Source
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35 (journal article) Aguila, Adriana \| Salah, Somaya \| Kulasekaran, Gopinath \| Shweiki, Moatasem \| Shaul-Lotan, Nava \| Mor-Shaked, Hagar \| Daana, Muhannad \| Harel, Tamar \| McPherson, Peter S. Journal of Biological Chemistry, volume 300, issue 4, pages 107124- (2024). 10.1016/j.jbc.2024.107124 Cite \| Source
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study (journal article) Michaelson‐Cohen, Rachel \| Salzer, Liat Sheelo \| Brabbing‐Goldstein, Dana \| Yaron, Yuval \| Reches, Adi \| Yonath, Hagith \| Regev, Miriam \| Shani, Hagit \| Altarescu, Gheona \| Segel, Reeval \| ... \| Maya, Idit Prenatal Diagnosis, volume 44, issue 4, pages 511-518 (2024). 10.1002/pd.6535 Cite \| Source
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome (journal article) Cahn, Avivit \| Mor-Shaked, Hagar \| Rosenberg-Fogler, Hallel \| Pollack, Rena \| Tolhuis, Bas \| Sharma, Gaurav \| Schultz, Eric \| Yanovsky-Dagan, Shira \| Harel, Tamar European Journal of Human Genetics, volume 32, issue 2, pages 232-237 (2024). 10.1038/s41431-023-01512-8 Cited by (2) \| Cite \| Source
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay (journal article) Salah, Somaya \| Jaber, Hiba \| Frumkin, Ayala \| Harel, Tamar American Journal of Medical Genetics Part A, volume 191, issue 10, pages 2623-2630 (2023). 10.1002/ajmg.a.63326 Cite \| Source
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation (journal article) O’Neill, Audrey G. \| Burrell, Anika L. \| Zech, Michael \| Elpeleg, Orly \| Harel, Tamar \| Edvardson, Simon \| Mor-Shaked, Hagar \| Rippert, Alyssa L. \| Nomakuchi, Tomoki \| Izumi, Kosuke \| Kollman, Justin M. Journal of Biological Chemistry, volume 299, issue 8, pages 105012- (2023). 10.1016/j.jbc.2023.105012 Cited by (2) \| Cite \| Source
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder (journal article) Maroofian, Reza \| Efthymiou, Stephanie \| Suri, Mohnish \| Rahman, Fatima \| Zaki, Maha S \| Maqbool, Shazia \| Anwa, Najwa \| Ruiz-Pérez, Victor L \| Yanovsky-Dagan, Shira \| Elpeleg, Orly \| ... \| Houlden, Henry Journal of Medical Genetics, volume 60, issue 8, pages 791-796 (2023). 10.1136/jmg-2022-108566 Cited by (1) \| Cite \| Source
A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay (journal article) Mo, Alisa \| Paz‐Ebstein, Emuna \| Yanovsky‐Dagan, Shira \| Lai, Abbe \| Mor‐Shaked, Hagar \| Gilboa, Tal \| Yang, Edward \| Shao, Diane D. \| Walsh, Christopher A. \| Harel, Tamar Clinical Genetics, volume 104, issue 1, pages 73-80 (2023). 10.1111/cge.14335 Cited by (3) \| Cite \| Source
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data (journal article) Zlotogora, Joël \| Harel, Tamar \| Meiner, Vardiella European Journal of Medical Genetics, volume 66, issue 6, pages 104765- (2023). 10.1016/j.ejmg.2023.104765 Cited by (2) \| Cite \| Source
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 (journal article) Datta, Arindam \| Sommers, Joshua A. \| Jhujh, Satpal S. \| Harel, Tamar \| Stewart, Grant S. \| Brosh, Robert M. Ageing Research Reviews, volume 86 (2023). 10.1016/j.arr.2023.101887 Cited by (2) \| Cite \| Source
Rare disease informs mechanism and possible treatment of statin-associated myopathy (journal article) Harel, Tamar Proceedings of the National Academy of Sciences, volume 120, issue 10 (2023). 10.1073/pnas.2300988120 Cite \| Source
Exome sequencing for structurally normal fetuses—yields and ethical issues (journal article) Daum, Hagit \| Harel, Tamar \| Millo, Talya \| Eilat, Avital \| Fahham, Duha \| Gershon-Naamat, Shiri \| Basal, Adily \| Rosenbluh, Chaggai \| Yanai, Nili \| Porat, Shay \| ... \| Mor-Shaked, Hagar European Journal of Human Genetics, volume 31, issue 2, pages 164-168 (2023). 10.1038/s41431-022-01169-9 Cited by (5) \| Cite \| Source
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila (journal article) Chung, Hyung-Lok \| Rump, Patrick \| Lu, Di \| Glassford, Megan R \| Mok, Jung-Wan \| Fatih, Jawid \| Basal, Adily \| Marcogliese, Paul C \| Kanca, Oguz \| Rapp, Michele \| ... \| Harel, Tamar Human Molecular Genetics, volume 31, issue 19, pages 3231-3244 (2022). 10.1093/hmg/ddac053 Cited by (8) \| Cite \| Source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (journal article) Penon‐Portmann, Monica \| Eldomery, Mohammad K. \| Potocki, Lorraine \| Marafi, Dana \| Posey, Jennifer E. \| Coban‐Akdemir, Zeynep \| Harel, Tamar \| Grochowski, Christopher M. \| Loucks, Hailey \| Devine, Walter Patrick \| ... \| Shieh, Joseph T. American Journal of Medical Genetics Part A, volume 188, issue 8, pages 2360-2366 (2022). 10.1002/ajmg.a.62872 Cited by (3) \| Cite \| Source
Orbital nodular fasciitis in child with biallelic germline RBL2 variant (journal article) Rips, Jonathan \| Abu-Libdeh, Bassam \| Koplewitz, Benjamin Z. \| Kehat-Ophir, Shay \| Frenkel, Shahar \| Elpeleg, Orly \| Harel, Tamar European Journal of Medical Genetics, volume 65, issue 6, pages 104513- (2022). 10.1016/j.ejmg.2022.104513 Cite \| Source
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity (journal article) Ezer, Shlomit \| Daana, Muhannad \| Park, Julien H \| Yanovsky-Dagan, Shira \| Nordström, Ulrika \| Basal, Adily \| Edvardson, Simon \| Saada, Ann \| Otto, Markus \| Meiner, Vardiella \| ... \| Harel, Tamar Brain, volume 145, issue 3, pages 872-878 (2022). 10.1093/brain/awab416 Cited by (12) \| Cite \| Source
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs (journal article) Yanovsky-Dagan, Shira \| Frumkin, Ayala \| Lupski, James R. \| Harel, Tamar Human Genetics and Genomics Advances, volume 3, issue 2, pages 100092- (2022). 10.1016/j.xhgg.2022.100092 Cited by (1) \| Cite \| Source
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing (journal article) Mor-Shaked, Hagar \| Paz-Ebstein, Emuna \| Basal, Adily \| Ben-Haim, Simona \| Grobe, Hanna \| Heymann, Sami \| Israel, Zvi \| Namnah, Montaser \| Nitzan, Anat \| Rosenbluh, Chaggai \| ... \| Arkadir, David Brain Communications, volume 3, issue 3 (2021). 10.1093/braincomms/fcab197 Cited by (5) \| Cite \| Source
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder (journal article) Abu-Libdeh, Bassam \| Mor-Shaked, Hagar \| Atawna, Amir A. \| Gillis, David \| Halstuk, Orli \| Shaul-Lotan, Nava \| Slae, Mordechai \| Sultan, Mutaz \| Meiner, Vardiella \| Elpeleg, Orly \| Harel, Tamar European Journal of Human Genetics, volume 29, issue 6, pages 977-987 (2021). 10.1038/s41431-021-00844-7 Cited by (8) \| Cite \| Source
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay (journal article) Mor‐Shaked, Hagar \| Salah, Somaya \| Yanovsky‐Dagan, Shira \| Meiner, Vardiella \| Atawneh, Osama M. \| Abu‐Libdeh, Bassam \| Elpeleg, Orly \| Harel, Tamar Clinical Genetics, volume 99, issue 4, pages 577-582 (2021). 10.1111/cge.13920 Cited by (8) \| Cite \| Source