| Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ... New England Journal of Medicine 370 (10), 921-931, 2014 | 678 | 2014 |
| Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure Y Tenenbaum-Rakover, A Weinberg-Shukron, P Renbaum, O Lobel, ... Journal of medical genetics 52 (6), 391-399, 2015 | 114 | 2015 |
| A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis A Weinberg-Shukron, P Renbaum, R Kalifa, S Zeligson, Z Ben-Neriah, ... The Journal of Clinical Investigation 125 (11), 4295-4304, 2015 | 95 | 2015 |
| Essential Role of BRCA2 in Ovarian Development and Function A Weinberg-Shukron, M Rachmiel, P Renbaum, S Gulsuner, T Walsh, ... New England Journal of Medicine 379 (11), 1042-1049, 2018 | 93 | 2018 |
| Testicular differentiation factor SF-1 is required for human spleen development D Zangen, Y Kaufman, E Banne, A Weinberg-Shukron, A Abulibdeh, ... The Journal of clinical investigation 124 (5), 2071-2075, 2014 | 40 | 2014 |
| Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome A Aran, R Segel, K Kaneshige, S Gulsuner, P Renbaum, S Oliphant, ... Neurology 88 (11), 1021-1028, 2017 | 35 | 2017 |
| Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations DA Zeevi, G Altarescu, A Weinberg-Shukron, F Zahdeh, T Dinur, G Chicco, ... The Journal of clinical investigation 125 (10), 3757-3765, 2015 | 35 | 2015 |
| Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and … A Weinberg-Shukron, A Abu-Libdeh, F Zhadeh, L Carmel, A Kogot-Levin, ... Journal of medical genetics 52 (9), 636-641, 2015 | 35 | 2015 |
| Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy Y Langer, A Aran, S Gulsuner, BA Libdeh, P Renbaum, D Brunetti, ... Journal of Medical Genetics 55 (9), 599-606, 2018 | 33 | 2018 |
| NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion A Auerbach, A Cohen, N Ofek Shlomai, A Weinberg-Shukron, S Gulsuner, ... The Journal of Clinical Endocrinology & Metabolism 105 (11), 3486-3495, 2020 | 19 | 2020 |
| Balanced gene dosage control rather than parental origin underpins genomic imprinting A Weinberg-Shukron, R Ben-Yair, N Takahashi, M Dunjić, A Shtrikman, ... Nature communications 13 (1), 4391, 2022 | 12 | 2022 |
| A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review. E Lavi, M Zighan, A Libdeh, T Klopstock, A Weinberg-Shukron, ... Pediatric Endocrinology Reviews: PER 17 (4), 302-307, 2020 | 5 | 2020 |
| The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic … M Abdulhadi‐Atwan, T Klopstock, M Sharaf, A Weinberg‐Shukron, ... American Journal of Medical Genetics Part A 182 (5), 1268-1272, 2020 | 4 | 2020 |
| Nucleoporin107 mediates female sexual differentiation via Dsx T Shore, T Levi, R Kalifa, A Dreifuss, D Rekler, A Weinberg-Shukron, ... Elife 11, e72632, 2022 | 3 | 2022 |
| Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domain A Weinberg-Shukron, NA Youngson, AC Ferguson-Smith, CA Edwards Frontiers in Cell and Developmental Biology 11, 1328806, 2023 | 2 | 2023 |
| OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN) E Levy-Lahad, P Elkan-Navon, R Segel, SB Pierce, T Walsh, J Barash, ... Pediatric Rheumatology 11, 1-2, 2013 | 2 | 2013 |
| Epigenetic control and Genomic imprinting dynamics of the Dlk1-Dio3 domain C Edwards, A Ferguson-Smith, A Weinberg-Shukron Frontiers Media SA, 2023 | | 2023 |
| A mutation in the nucleoporin-107 gene causes aberrant Dpp/BMP signaling and XX gonadal dysgenesis T Shore, T Levi, R Kalifa, D Rekler, A Dreifuss, A Weinberg-Shukron, ... HORMONE RESEARCH IN PAEDIATRICS 91, 99-99, 2019 | | 2019 |
| Iron Chelators Are an Effective Treatment for a Relatively Common Cause of Anti-GAD Negative D Zangen, UN Abdulhag, A Weinberg-Shukron, A Abulibdeh, ... 99th Annual Meeting of the Endocrine Society, 2017 | | 2017 |
| DPP-4 Inhibitor is an Alternative Effective Treatment in a Common Cause of Anti-GAD Negative" Type 1 Diabetes"-A Founder CISD2 Mutation UN Abdulhag, A Weinberg-Shukron, MA Abdelhadi, G Leibovitz, ... HORMONE RESEARCH IN PAEDIATRICS 86, 40-41, 2016 | | 2016 |
