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T. Paperna · SciRah

Researcher profile · Semantic Scholar

T. Paperna

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T. Paperna — researcher profile on SciRah

h-index: 22
Works: 63
Citations: 1,628

Most-cited papers

A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers
E. Levy-Lahad, A. Lahad, S. Eisenberg, E. Dagan +7 more
2001Proceedings of the National Academy of Sciences of the United States of America213 citations Open access
Semantic Scholar
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
R. Peoples, Y. Franke, Yu-Ker Wang, L. Pérez-Jurado +3 more
2000American Journal of Human Genetics190 citations Open access
Semantic Scholar
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome.
Yu-Ker Wang, Ralf Spörle, T. Paperna, K. Schughart +1 more
1999Genomics91 citations Open access
Semantic Scholar
Internet Usage by Patients with Multiple Sclerosis: Implications to Participatory Medicine and Personalized Healthcare
I. Lejbkowicz, T. Paperna, N. Stein, S. Dishon +1 more
2010Multiple Sclerosis International78 citations Open access
Semantic Scholar
The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis
K. Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez +45 more
2019Genetics in Medicine74 citations Open access
Semantic Scholar
The ubiquitin–proteasome pathway regulates claudin 5 degradation
I. Mandel, T. Paperna, Anat Volkowich, M. Merhav +2 more
2012Journal of Cellular Biochemistry74 citations
Semantic Scholar
Cathepsins and their endogenous inhibitors cystatins: expression and modulation in multiple sclerosis
Dana Haves-Zburof, T. Paperna, Alumit Gour-Lavie, I. Mandel +2 more
2011Journal of Cellular and Molecular Medicine72 citations Open access
Semantic Scholar
Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers
I. Grossman, N. Avidan, C. Singer, D. Goldstaub +8 more
2007Pharmacogenetics & Genomics67 citations
Semantic Scholar
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
A. Kurolap, O. Eshach-Adiv, T. Hershkovitz, T. Paperna +18 more
2017New England Journal of Medicine52 citations Open access
Semantic Scholar
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
A. Nakano, G. Lestringant, T. Paperna, R. Bergman +9 more
2002Journal of American Academy of Dermatology52 citations
Semantic Scholar
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
T. Paperna, R. Peoples, Yu-Ker Wang, P. Kaplan +1 more
1998Genomics52 citations Open access
Semantic Scholar
Tight junction proteins expression and modulation in immune cells and multiple sclerosis
I. Mandel, T. Paperna, L. Glass-Marmor, Anat Volkowich +5 more
2012Journal of Cellular and Molecular Medicine50 citations Open access
Semantic Scholar
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Marisa W. Friederich, S. Timal, Christopher A. Powell, C. Dallabona +49 more
2018Nature Communications46 citations Open access
Semantic Scholar
Interferon-Beta Induces Distinct Gene Expression Response Patterns in Human Monocytes versus T cells
N. Henig, N. Avidan, I. Mandel, E. Staun-Ram +4 more
2013PLoS ONE46 citations Open access
Semantic Scholar
Chronotherapy using corticosteroids for multiple sclerosis relapses
L. Glass-Marmor, T. Paperna, Y. Ben-Yosef, Ariel Miller
2006Journal of Neurology Neurosurgery & Psychiatry45 citations Open access
Semantic Scholar
Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype
E. Dagan, E. Friedman, T. Paperna, Nirit D. Carmi +1 more
2002European Journal of Human Genetics43 citations
Semantic Scholar
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
T. Paperna, R. Gershoni-baruch, Kader Badarneh, L. Kasinetz +1 more
2005Journal of Clinical Endocrinology and Metabolism42 citations Open access
Semantic Scholar
Gene Expression Profiling of the Response to Interferon Beta in Epstein-Barr-Transformed and Primary B Cells of Patients with Multiple Sclerosis
Rana Khsheibun, T. Paperna, Anat Volkowich, I. Lejbkowicz +2 more
2014PLoS ONE31 citations Open access
Semantic Scholar
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
T. Hershkovitz, A. Kurolap, C. Gonzaga-Jauregui, T. Paperna +8 more
2019Journal of Human Genetics28 citations
Semantic Scholar
Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency
A. Kurolap, Orly Eshach Adiv, T. Hershkovitz, A. Tabib +9 more
2019Journal of Pediatric Gastroenterology and Nutrition - JPGN27 citations
Semantic Scholar
Translation towards personalized medicine in Multiple Sclerosis.
Ariel Miller, N. Avidan, Noa Tzunz-Henig, L. Glass-Marmor +3 more
2008Journal of Neurological Sciences27 citations
Semantic Scholar
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype
A. Kurolap, O. Eshach-Adiv, C. Gonzaga-Jauregui, K. Dolnikov +10 more
2018Journal of Medical Genetics22 citations
Semantic Scholar
Immunomodulation by chronobiologically-based glucocorticoids treatment for multiple sclerosis relapses.
L. Glass-Marmor, T. Paperna, Yanna Galboiz, Ariel Miller
2009Journal of Neuroimmunology22 citations
Semantic Scholar
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
A. Kurolap, Orly Eshach Adiv, L. Konnikova, L. Werner +15 more
2019Journal of Clinical Immunology17 citations
Semantic Scholar
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
T. Hershkovitz, A. Kurolap, Galit Tal, T. Paperna +8 more
2020Molecular Genetics and Metabolism Reports15 citations Open access
Semantic Scholar
Functional characterization of mongoose nicotinic acetylcholine receptor α‐subunit: resistance to α‐bungarotoxin and high sensitivity to acetylcholine
O. Asher, M. Lupu‐Meiri, B. S. Jensen, T. Paperna +2 more
199814 citations Open access
Semantic Scholar
Aberrant expression of the apoptosis-related proteins BAK and MCL1 in T cells in multiple sclerosis.
I. Mandel, T. Paperna, Ariel Miller
2012Journal of Neuroimmunology12 citations
Semantic Scholar
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
T. Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, Y. Goldberg +11 more
2019Journal of Medical Genetics11 citations
Semantic Scholar
A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature
L. Sagi-Dain, Alina Kurolap, A. Ilivitzki, A. Mory +5 more
2019American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Multiple sclerosis in diverse populations: characteristics in distinct Arab ethnicities in Israel
M. Siegel, T. Paperna, I. Lejbkowicz, P. Petrou +6 more
2012Multiple Sclerosis11 citations
Semantic Scholar
Involvement of phosphodiesterases in autoimmune diseases.
Keren Mizrachi, Revital Aricha, T. Feferman, Neta Kela-Madar +7 more
2010Journal of Neuroimmunology11 citations
Semantic Scholar
Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity
I. Grossman, N. Avidan, C. Singer, T. Paperna +3 more
2004Genes and Immunity10 citations
Semantic Scholar
Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.
I. Makhoul, A. Aviram-Goldring, T. Paperna, P. Sujov +4 more
2001American journal of medical genetics9 citations
Semantic Scholar
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
K. Weiss, Nina Ekhilevitch, L. Cohen, Sharon Bratman-Morag +9 more
2020European Journal of Medical Genetics8 citations
Semantic Scholar
Rapid exome sequencing for children with severe acute encephalopathy - A case series.
C. Habib, T. Paperna, R. Zaid, S. Ravid +4 more
2024European Journal of Medical Genetics6 citations Open access
Semantic Scholar
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Omer Shlomovitz, Danit Atias-Varon, D. Yagel, O. Barel +30 more
2023American Journal of Kidney Diseases6 citations
Semantic Scholar
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
K. Weiss, Hayley P. Lazar, A. Kurolap, Ariel F. Martinez +45 more
2019Genetics in Medicine6 citations Open access
Semantic Scholar
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Nadra G. Samra, Nicolette S. Jansen, Ilham Morani, R. Kakun +16 more
2023Journal of Medical Genetics5 citations Open access
Semantic Scholar
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Yaron Einhorn, M. Einhorn, Alina Kurolap, Dror Steinberg +9 more
2023Human Genomics4 citations Open access
Semantic Scholar
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
Gili Reznick Levi, Y. Goldberg, H. Segev, I. Maza +13 more
2023Digestive and Liver Disease4 citations
Semantic Scholar
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
A. Peleg, A. Kurolap, L. Sagi-Dain, G. Larom-Khan +8 more
2020Clinical Dysmorphology4 citations
Semantic Scholar
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt
K. Weiss, A. Kurolap, T. Paperna, A. Mory +4 more
2018Rambam Maimonides Medical Journal4 citations Open access
Semantic Scholar
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly
I. Kessel, A. German, A. Peleg, C. Gonzaga-Jauregui +5 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
Gili Reznick Levi, Gal Larom, Vered Ofen Glassner, Nina Ekhilevitch +4 more
2021Familial Cancer2 citations
Semantic Scholar
Theranostics and Translation toward Personalized Medicine for Multiple Sclerosis
Ariel Miller, T. Paperna, O. Caspi, I. Lejbkowicz +2 more
20102 citations
Semantic Scholar
Functional characterization of mongoose nicotinic acetylcholine receptor alpha-subunit: resistance to alpha-bungarotoxin and high sensitivity to acetylcholine.
O. Asher, M. Lupu‐Meiri, B. S. Jensen, T. Paperna +2 more
1998FEBS Letters2 citations
Semantic Scholar
A family with an atypical presentation of TBX3-related disorder.
K. Osman, Ayman Asaly, Rana Halloun, T. Paperna +4 more
2025European Journal of Medical Genetics1 citations Open access
Semantic Scholar
The d3GHR carrier epigenome in Druze clan longevity
Ghadeer Falah, Alina Kurolap, T. Paperna, Nina Ekhilevitch +9 more
2024Scientific Reports1 citations Open access
Semantic Scholar
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia
M. Blich, Yaniv Zohar, Victoria Cohen‐Kaplan, I. Minkov +10 more
2024Pacing and clinical electrophysiology : PACE1 citations
Semantic Scholar
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management
Yara Nakhleh-Francis, T. Hershkovitz, Nina Ekhilevitch, C. Habib +9 more
2023Genetics in medicine open1 citations Open access
Semantic Scholar

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