Orly Elpeleg

ScholarGPS® ID: 63224530885927

Affiliation

Hebrew University of Jerusalem, Jerusalem and Rehovot, Israel

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

309

Predicted Citations

18,645

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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Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy (journal article) Abela, Lucia \| Gianfrancesco, Lorita \| Tagliatti, Erica \| Rossignoli, Giada \| Barwick, Katy \| Zourray, Clara \| Reid, Kimberley M \| Budinger, Dimitri \| Ng, Joanne \| Counsell, John \| ... \| Kurian, Manju A Brain, volume 147, issue 6, pages 2023-2037 (2024). 10.1093/brain/awae020 Cite \| Source
Study of an FBXO7 patient mutation reveals Fbxo7 and PI 31 co‐regulate proteasomes and mitochondria (journal article) Al Rawi, Sara \| Simpson, Lorna \| Agnarsdóttir, Guðrún \| McDonald, Neil Q. \| Chernuha, Veronika \| Elpeleg, Orly \| Zeviani, Massimo \| Barker, Roger A. \| Spiegel, Ronen \| Laman, Heike The FEBS Journal, volume 291, issue 12, pages 2565-2589 (2024). 10.1111/febs.17114 Cited by (1) \| Cite \| Source
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK (journal article) Keller, Baerbel \| Kfir-Erenfeld, Shlomit \| Matusewicz, Paul \| Hartl, Frederike \| Lev, Atar \| Lee, Yu Nee \| Simon, Amos J. \| Stauber, Tali \| Elpeleg, Orly \| Somech, Raz \| ... \| Warnatz, Klaus Journal of Clinical Immunology, volume 44, issue 1 (2024). 10.1007/s10875-023-01614-4 Cited by (1) \| 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
Nociception and pain in humans lacking a functional TRPV1 channel (journal article) Katz, Ben \| Zaguri, Rachel \| Edvardson, Simon \| Maayan, Channa \| Elpeleg, Orly \| Lev, Shaya \| Davidson, Elyad \| Peters, Maximilian \| Kfir-Erenfeld, Shlomit \| Berger, Esther \| ... \| Minke, Baruch Journal of Clinical Investigation, volume 133, issue 3 (2023). 10.1172/JCI153558 Cited by (21) \| 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
Mutations in SLC25A36 (PNC2) associated with the hyperinsulinism/hyperammonemia (HI/HA) syndrome (journal article) Palmieri, Luigi \| Lasorsa, Francesco M. \| Elpeleg, Orly Biochimica et Biophysica Acta (BBA) - Bioenergetics, volume 1863 (2022). 10.1016/j.bbabio.2022.148843 Cite \| Source
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia (journal article) Dinoi, Giorgia \| Morin, Michael \| Conte, Elena \| Mor Shaked, Hagar \| Coppola, Maria Antonietta \| D’Adamo, Maria Cristina \| Elpeleg, Orly \| Liantonio, Antonella \| Hartmann, Inbar \| De Luca, Annamaria \| ... \| Imbrici, Paola International Journal of Molecular Sciences, volume 23, issue 15, pages 8079- (2022). 10.3390/ijms23158079 Cited by (5) \| 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
A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay (journal article) Hexner-Erlichman, Zufit \| Fichtman, Boris \| Zehavi, Yoav \| Khayat, Morad \| Jabaly-Habib, Haneen \| Izhaki-Tavor, Lee S. \| Dessau, Moshe \| Elpeleg, Orly \| Spiegel, Ronen Frontiers in Pediatrics, volume 10 (2022). 10.3389/fped.2022.859034 Cited by (1) \| Cite \| Source
PNC2 ( SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome (journal article) Shahroor, Maher A \| Lasorsa, Francesco M \| Porcelli, Vito \| Dweikat, Imad \| Di Noia, Maria Antonietta \| Gur, Michal \| Agostino, Giulia \| Shaag, Avraham \| Rinaldi, Teresa \| Gasparre, Giuseppe \| ... \| Palmieri, Luigi The Journal of Clinical Endocrinology & Metabolism, volume 107, issue 5, pages 1346-1356 (2022). 10.1210/clinem/dgab932 Cited by (4) \| Cite \| Source
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System (journal article) Confino, Shir \| Dor, Talya \| Tovin, Adi \| Wexler, Yair \| Ben-Moshe Livne, Zohar \| Kolker, Michaela \| Pisanty, Odelia \| Park, Sohyun Kathy \| Geyer, Nathalie \| Reiter, Joel \| ... \| Gothilf, Yoav International Journal of Molecular Sciences, volume 23, issue 4, pages 2373- (2022). 10.3390/ijms23042373 Cited by (3) \| Cite \| Source
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis (journal article) Even-Or, Ehud \| Schiesel, Gali \| Simanovsky, Natalia \| NaserEddin, Adeeb \| Zaidman, Irina \| Elpeleg, Orly \| Mor-Shaked, Hagar \| Stepensky, Polina Bone, volume 154 (2022). 10.1016/j.bone.2021.116229 Cited by (9) \| Cite \| Source
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects (journal article) Pagnamenta, Alistair T. \| Jackson, Adam \| Perveen, Rahat \| Beaman, Glenda \| Petts, Gemma \| Gupta, Asheeta \| Hyder, Zerin \| Chung, Brian Hon‐Yin \| Kan, Anita Sik‐Yau \| Cheung, Ka Wang \| ... \| Ta‐Shma, Asaf Clinical Genetics, volume 101, issue 1, pages 127-133 (2022). 10.1111/cge.14071 Cited by (11) \| Cite \| Source
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy (journal article) Nasca, Alessia \| Di Meo, Ivano \| Fellig, Yakov \| Saada, Ann \| Elpeleg, Orly \| Ghezzi, Daniele \| Edvardson, Shimon Journal of Human Genetics, volume 66, issue 8, pages 835-840 (2021). 10.1038/s10038-020-00897-4 Cited by (3) \| 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
Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease (journal article) Trefzer, Raphael \| Elpeleg, Orly \| Gabrusskaya, Tatyana \| Stepensky, Polina \| Mor-Shaked, Hagar \| Grosse, Robert \| Brandt, Dominique T. PLOS ONE, volume 16, issue 5, pages e0252428- (2021). 10.1371/journal.pone.0252428 Cited by (6) \| 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
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment (journal article) Zehavi, Yoav \| Saada, Ann \| Jabaly-Habib, Haneen \| Dessau, Moshe \| Shaag, Avraham \| Elpeleg, Orly \| Spiegel, Ronen Metabolic Brain Disease, volume 36, issue 4, pages 581-588 (2021). 10.1007/s11011-021-00671-1 Cited by (4) \| Cite \| Source