T. Paperna

发表

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

U. Francke, L. Pérez-Jurado, R. Peoples, 2000, American journal of human genetics.

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

H. Baris, K. Weiss, N. Ekhilevitch, 2018, Rambam Maimonides medical journal.

E. Staun-ram, N. Avidan, I. Lejbkowicz, 2016 .

A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

A. Kurolap, A. Mory, L. Sagi‐Dain, 2019, American journal of medical genetics. Part A.

A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly

N. Ekhilevitch, A. Kurolap, L. Sagi‐Dain, 2021, American journal of medical genetics. Part A.

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

H. Mandel, H. Baris, N. Ekhilevitch, 2016, American journal of human genetics.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

A. Shuldiner, Y. Goldberg, A. Kurolap, 2019, Journal of Medical Genetics.

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

F. Glaser, D. Magen, K. Weiss, 2021, Frontiers in Immunology.

Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers

J. Beckmann, I. Pe’er, D. Lancet, 2007, Pharmacogenetics and genomics.

The ubiquitin–proteasome pathway regulates claudin 5 degradation

M. Merhav, Ariel Miller, L. Glass-Marmor, 2012, Journal of cellular biochemistry.

Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity

J. Beckmann, D. Lancet, Ariel Miller, 2004, Genes and Immunity.

CDNA cloning of chick brain alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors reveals conservation of structure, function and post-transcriptional processes with mammalian receptors.

T. Paperna, V. Teichberg, Y. Lamed, 1996, Brain research. Molecular brain research.

Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel

J. Oksenberg, J. Wang, N. Avidan, 2010, Genes and Immunity.

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

J. Uitto, R. Bergman, G. Richard, 2002, Journal of the American Academy of Dermatology.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Aberrant expression of the apoptosis-related proteins BAK and MCL1 in T cells in multiple sclerosis

Ariel Miller, T. Paperna, I. Mandel, 2012, Journal of Neuroimmunology.

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel

K. Weiss, N. Ekhilevitch, T. Paperna, 2021, Familial Cancer.

Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.

R. Gershoni-baruch, M. Epelman, T. Paperna, 2001, American journal of medical genetics.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

A. Shuldiner, S. Snapper, J. Overton, 2019, Journal of Clinical Immunology.

Cathepsins and their endogenous inhibitors cystatins: expression and modulation in multiple sclerosis

Ariel Miller, L. Glass-Marmor, T. Paperna, 2011, Journal of cellular and molecular medicine.

Chronotherapy using corticosteroids for multiple sclerosis relapses

Ariel Miller, L. Glass-Marmor, T. Paperna, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

H. Mandel, Ann Saada, J. Staples, 2020, Molecular genetics and metabolism reports.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

F. Glaser, A. Shuldiner, J. Overton, 2018, Journal of Medical Genetics.

Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome.

K. Schughart, U. Francke, R. Spörle, 1999, Genomics.

Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.

P. Kaplan, U. Francke, P. Kaplan, 1998, Genomics.

A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers

S. Eisenberg, R. Gershoni-baruch, E. Dagan, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency

D. Mevorach, A. Kurolap, A. Mory, 2019, Journal of pediatric gastroenterology and nutrition.

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

D. Geiger, H. Mandel, D. Magen, 2017, The New England journal of medicine.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

M. Muenke, H. Baris, K. Weiss, 2020, European journal of medical genetics.

Multiple sclerosis in diverse populations: characteristics in distinct Arab ethnicities in Israel

I. Lavi, Ariel Miller, D. Karussis, 2012, Multiple sclerosis.

Functional characterization of mongoose nicotinic acetylcholine receptor α‐subunit: resistance to α‐bungarotoxin and high sensitivity to acetylcholine

Y. Oron, S. Fuchs, M. Lupu-Meiri, 1998 .

Gene Expression Profiling of the Response to Interferon Beta in Epstein-Barr-Transformed and Primary B Cells of Patients with Multiple Sclerosis

Ariel Miller, N. Avidan, I. Lejbkowicz, 2014, PloS one.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

Interferon-Beta Induces Distinct Gene Expression Response Patterns in Human Monocytes versus T cells

Ron Y. Pinter, Ariel Miller, R. Pinter, 2013, PloS one.

Translation towards personalized medicine in Multiple Sclerosis

Ron Y. Pinter, Ariel Miller, R. Pinter, 2008, Journal of the Neurological Sciences.

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

R. Gershoni-baruch, Z. Hochberg, T. Paperna, 2005, The Journal of clinical endocrinology and metabolism.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

A. Shuldiner, N. Adir, A. Kurolap, 2020, Clinical dysmorphology.

Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype

R. Gershoni-baruch, E. Dagan, E. Friedman, 2002, European Journal of Human Genetics.

Involvement of phosphodiesterases in autoimmune diseases

A. Ben-nun, Ariel Miller, S. Fuchs, 2010, Journal of Neuroimmunology.

High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.

G. Rennert, K. Weiss, Y. Goldberg, 2023, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Internet Usage by Patients with Multiple Sclerosis: Implications to Participatory Medicine and Personalized Healthcare

Ariel Miller, Ariel Miller, I. Lejbkowicz, 2010, Multiple sclerosis international.

Tight junction proteins expression and modulation in immune cells and multiple sclerosis

Ariel Miller, L. Glass-Marmor, S. Badarny, 2012, Journal of cellular and molecular medicine.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Immunomodulation by chronobiologically-based glucocorticoids treatment for multiple sclerosis relapses

Ariel Miller, L. Glass-Marmor, T. Paperna, 2009, Journal of Neuroimmunology.

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

K. Weiss, A. Kurolap, A. Mory, 2023, Human Genomics.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

A. Shuldiner, S. Snapper, J. Overton, 2019, Journal of Clinical Immunology.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.

O. Barel, A. Vivante, T. Paperna, 2023, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Multiple sclerosis in diverse populations: characteristics in distinct Arab ethnicities in Israel

I. Lavi, Ariel Miller, D. Karussis, 2012, Multiple sclerosis.

The d3GHR carrier epigenome in Druze clan longevity

A. Kurolap, T. Paperna, G. Hassoun, 2024, Scientific reports.