关注
Ronit Marom
Ronit Marom
在 bcm.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
2782005
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
1862020
Osteogenesis imperfecta: advancements in genetics and treatment
V Rossi, B Lee, R Marom
Current opinion in pediatrics 31 (6), 708-715, 2019
1442019
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
1062018
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
942016
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
822002
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
802016
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
752016
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
642017
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
622002
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
462015
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
452018
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
452006
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
352019
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
332020
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
332017
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
262022
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
242017
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
222019
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
222017
系统目前无法执行此操作,请稍后再试。
文章 1–20