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Noa Ruhrman‐Shahar

Observed names: N. Ruhrman-Shahar, Noa Rhurman-Shahar, Noa Ruhrman Shahar, Noa Ruhrman-Sahar, Noa Ruhrman-Shahar, Noa Rurman-Shahar
ORCID: 0009-0009-8725-2596
Observed ORCID: 0009-0009-8725-2596
OpenAlex ID: A5083537731
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
2019 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 135
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Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
2018 · Lina Basel-Salmon, Naama Orenstein, et al. · Genetics in Medicine · 93
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
2019 · Pamela Magini, Daphne J. Smits, et al. · The American Journal of Human Genetics · 79
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
2020 · Zippora Brownstein, Suleyman Gulsuner, et al. · Clinical Genetics · 31
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When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
2020 · Lina Basel-Salmon, Noa Ruhrman-Shahar, et al. · Genetics in Medicine · 22
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Autoimmune reaction after anti-tetanus vaccination—description of four cases and review of the literature
2016 · N. Ruhrman-Shahar, J. Torres-Ruiz, et al. · Immunologic Research · 21
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
2022 · Aviva Eliyahu, Ortal Barel, et al. · Frontiers in Pediatrics · 18
Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations
2018 · Tova Hershkovitz, Alina Kurolap, et al. · American Journal of Medical Genetics Part A · 18
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study
2022 · Rivka Sukenik‐Halevy, Sharon Perlman, et al. · Prenatal Diagnosis · 17
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Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects
2022 · Liat Salzer-Sheelo, Uri Polak, et al. · Archives of Gynecology and Obstetrics · 14
Differences in the characteristics and contemporary cardiac outcomes of patients with light-chain versus transthyretin cardiac amyloidosis
2021 · Osnat Itzhaki Ben Zadok, Mordehay Vaturi, et al. · PLoS ONE · 14
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Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
2019 · Helen Toledano, Naama Orenstein, et al. · Journal of Medical Genetics · 14
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
2024 · Dana Brabbing‐Goldstein, Lily Bazak, et al. · Prenatal Diagnosis · 9
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Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
2022 · Francis Ramond, Caroline Dalgliesh, et al. · Genetics in Medicine · 7
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia
2021 · Liat Salzer‐Sheelo, Avi Fellner, et al. · European Journal of Neurology · 7
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting
2021 · Rivka Sukenik‐Halevy, Noa Ruhrman‐Shahar, et al. · Prenatal Diagnosis · 7
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly
2021 · Lina Basel-Salmon, Noa Ruhrman-Shahar, et al. · European Journal of Medical Genetics · 7
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics
2025 · Amir Dori, Odelia Chorin, et al. · European Journal of Neurology · 6
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Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study
2023 · Shoshana Revel-Vilk, Royston Mansfield, et al. · Journal of Clinical Medicine · 6
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The Short and Long-Term Characteristics and Outcomes of Patients with Grade 1 Myocardial Uptake on Cardiac Scintigraphy
2023 · Osnat Itzhaki Ben Zadok, Noa Ruhrman-Sahar, et al. · ESC Heart Failure · 6
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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
2021 · Naama Orenstein, Yoel Gofin, et al. · Clinical Genetics · 6
Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease
2021 · Uri Hamiel, Alina Kurolap, et al. · British Journal of Haematology · 6
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The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
2021 · Avi Fellner, Noa Ruhrman-Shahar, et al. · Genetics in Medicine · 6
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
2020 · Rachel Michaelson-Cohen, Liat Salzer-Sheelo, et al. · Genetics in Medicine · 6
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Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy
2025 · Noa Ruhrman Shahar, Dina Marek- Yagel, et al. · Circulation Genomic and Precision Medicine · 4
Works count: 35
Citation count: 572
H-index: 12
I10-index: 12
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