RONIT MAROM to Humans
This is a "connection" page, showing publications RONIT MAROM has written about Humans.
Connection Strength
0.255
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Generation of a humanized mAce2 and a conditional hACE2 mouse models permissive to SARS-COV-2 infection. Mamm Genome. 2024 Jun; 35(2):113-121.
Score: 0.023
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.023
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.019
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Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct; 183(4):R95-R106.
Score: 0.018
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A Somnolent Neonate With Hypothermia and Posturing. Clin Pediatr (Phila). 2020 07; 59(8):841-843.
Score: 0.018
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Osteogenesis imperfecta: advancements in genetics and treatment. Curr Opin Pediatr. 2019 12; 31(6):708-715.
Score: 0.017
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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.015
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Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):367-383.
Score: 0.014
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Expression and regulation of CReMM, a chromodomain helicase-DNA-binding (CHD), in marrow stroma derived osteoprogenitors. J Cell Physiol. 2006 Jun; 207(3):628-35.
Score: 0.007
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Posthumous sperm retrieval in the context of armed conflict. Hum Reprod. 2025 Nov 01; 40(11):2056-2065.
Score: 0.006
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Querying the capability of the post-HoLEP endoscopic aspect of the membranous urethral mucosa in predicting urinary incontinence: a prospective AI-based analysis. World J Urol. 2025 Mar 12; 43(1):165.
Score: 0.006
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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.006
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Sterile Water Versus Glycine in Transurethral Resection of Bladder Tumors-Immunogenic and Clinical Implications. Eur Urol Focus. 2024 Sep; 10(5):796-804.
Score: 0.006
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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nat Genet. 2023 09; 55(9):1598-1607.
Score: 0.006
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Barriers to a successful healthcare transition for individuals with urea cycle disorders. Mol Genet Metab. 2023 07; 139(3):107609.
Score: 0.005
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.
Score: 0.005
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.005
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.005
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A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet. 2020 08 03; 29(13):2171-2184.
Score: 0.005
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.004
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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 12; 21(12):2713-2722.
Score: 0.004
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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 12 03; 37(23).
Score: 0.004
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162.
Score: 0.004
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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 01; 44:58-64.
Score: 0.004
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.004
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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct; 173(10):2789-2794.
Score: 0.004
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.004
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Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr Opin Pediatr. 2016 12; 28(6):694-699.
Score: 0.003
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Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clin Genet. 2016 10; 90(4):351-60.
Score: 0.003
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Isolated mild white matter signal changes in preterm infants: a regional approach for comparison of cranial ultrasound and MRI findings. J Perinatol. 2014 Jun; 34(6):476-82.
Score: 0.003
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Unintentional oral beta agonist overdose: case report and review of the literature. Am J Ther. 2013 May-Jun; 20(3):311-4.
Score: 0.003
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Identification of cultured progenitor cells from human marrow stroma. J Cell Biochem. 2002; 87(1):51-7.
Score: 0.001
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Cellular and molecular properties associated with osteosarcoma cells. J Cell Biochem. 2001; 84(1):108-14.
Score: 0.001