Characterization of adhesion and differentiation markers of osteogenic marrow stromal cells R Marom, I Shur, R Solomon, D Benayahu Journal of cellular physiology 202 (1), 41-48, 2005 | 278 | 2005 |
Management of endocrine disease: Osteogenesis imperfecta: An update on clinical features and therapies R Marom, BM Rabenhorst, R Morello European journal of endocrinology 183 (4), R95-R106, 2020 | 186 | 2020 |
Osteogenesis imperfecta: advancements in genetics and treatment V Rossi, B Lee, R Marom Current opinion in pediatrics 31 (6), 708-715, 2019 | 144 | 2019 |
Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 106 | 2018 |
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing M Almannai, R Marom, VR Sutton Current opinion in pediatrics 28 (6), 694-699, 2016 | 94 | 2016 |
Cellular and molecular properties associated with osteosarcoma cells D Benayahu, I Shur, R Marom, I Meller, J Issakov Journal of cellular biochemistry 84 (1), 108-114, 2002 | 82 | 2002 |
Pharmacological and biological therapeutic strategies for osteogenesis imperfecta R Marom, YC Lee, I Grafe, B Lee American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2016 | 80 | 2016 |
Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension S Wallace, DC Guo, E Regalado, L Mellor‐Crummey, M Bamshad, ... Clinical genetics 90 (4), 351-360, 2016 | 75 | 2016 |
Identification of novel candidate disease genes from de novo exonic copy number variants T Gambin, B Yuan, W Bi, P Liu, JA Rosenfeld, Z Coban-Akdemir, ... Genome medicine 9, 1-15, 2017 | 64 | 2017 |
Identification of cultured progenitor cells from human marrow stroma I Shur, R Marom, F Lokiec, R Socher, D Benayahu Journal of cellular biochemistry 87 (1), 51-57, 2002 | 62 | 2002 |
A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation CD Lietman, R Marom, E Munivez, TK Bertin, MM Jiang, Y Chen, ... Journal of Bone and Mineral Research 30 (3), 489-498, 2015 | 46 | 2015 |
De novo missense variants in TRAF7 cause developmental delay, congenital anomalies, and dysmorphic features MJ Tokita, CA Chen, D Chitayat, E Macnamara, JA Rosenfeld, ... The American Journal of Human Genetics 103 (1), 154-162, 2018 | 45 | 2018 |
Expression and regulation of CReMM, a chromodomain helicase‐DNA‐binding (CHD), in marrow stroma derived osteoprogenitors R Marom, I Shur, GL Hager, D Benayahu Journal of cellular physiology 207 (3), 628-635, 2006 | 45 | 2006 |
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect M Nizon, V Laugel, KM Flanigan, M Pastore, MA Waldrop, JA Rosenfeld, ... Genetics in Medicine 21 (12), 2713-2722, 2019 | 35 | 2019 |
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy N Assia Batzir, P Kishor Bhagwat, A Larson, Z Coban Akdemir, M Bagłaj, ... Human Mutation 41 (3), 641-654, 2020 | 33 | 2020 |
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability R Marom, M Jain, LC Burrage, IW Song, BH Graham, CW Brown, ... Human mutation 38 (10), 1365-1371, 2017 | 33 | 2017 |
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... Cell reports 38 (11), 2022 | 26 | 2022 |
Milder clinical and biochemical phenotypes associated with the c. 482G> a (p. Arg161Gln) pathogenic variant in cobalamin C disease: implications for management and screening M Almannai, R Marom, K Divin, F Scaglia, VR Sutton, WJ Craigen, B Lee, ... Molecular genetics and metabolism 122 (1-2), 60-66, 2017 | 24 | 2017 |
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 AA Larson, S Balasubramaniam, J Christodoulou, LC Burrage, R Marom, ... Mitochondrion 44, 58-64, 2019 | 22 | 2019 |
Neonatal fractures as a presenting feature of LMOD3‐associated congenital myopathy M Abbott, M Jain, R Pferdehirt, Y Chen, A Tran, MB Duz, M Seven, ... American Journal of Medical Genetics Part A 173 (10), 2789-2794, 2017 | 22 | 2017 |