P. Renbaum

发表

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.

E. Levy-Lahad, G. Altarescu, T. Eldar-Geva, 2015, Reproductive biomedicine online.

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

R. Carmi, M. Horowitz, N. Navot, 1998, Human mutation.

BRCA1 and BRCA2 mutation carriers as potential candidates for chemoprevention trials

A. Lahad, B. Kaufman, E. Levy-Lahad, 2000, Journal of cellular biochemistry. Supplement.

Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.

K. Funato, R. Segel, P. Renbaum, 2020, FEBS letters.

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures

T. Walsh, M. King, K. Funato, 2020, neurogenetics.

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

T. Walsh, M. King, D. Lev, 2021, Journal of Medical Genetics.

Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications.

P. Lazo, E. Levy-Lahad, M. Vázquez-Cedeira, 2011, Journal of proteomics.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

T. Walsh, M. King, M. Tekin, 2014, The New England journal of medicine.

Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene.

L. Schmidt, F. Chen, F. Duh, 1995, Cancer research.

BRCA1 Germline Mutations in Women With Uterine Serous Papillary Carcinoma

E. Levy-Lahad, U. Beller, O. Lavie, 2000, Obstetrics and gynecology.

Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.

E. Levy-Lahad, Y. Cohen, U. Beller, 1999, Gynecologic oncology.

Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.

T. Goiran, E. Duplan, F. Checler, 2013, Journal of molecular cell biology.

Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long‐Range PCR in the Single‐Cell Assay

D. Zeevi, E. Levy-Lahad, E. Margalioth, 2013, Human mutation.

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

A. Orr-Urtreger, E. Levy-Lahad, G. Altarescu, 2010, Genetics in Medicine.

Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways

E. Levy-Lahad, P. Renbaum, Hadar Vinograd-Byk, 2018, Scientific Reports.

Hemolysis and bilirubin conjugation in association with UDP‐glucuronosyltransferase 1A1 promoter polymorphism

D. Stevenson, C. Hammerman, E. Levy-Lahad, 2002, Hepatology.

Neonatal Hyperbilirubinemia in Glucose-6-Phosphate Dehydrogenase-deficient Heterozygotes

D. Stevenson, E. Beutler, C. Hammerman, 1999, Pediatrics.

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.

E. Levy-Lahad, D. Zangen, P. Renbaum, 2012, European journal of endocrinology.

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis

E. Levy-Lahad, O. Bern, R. Ron-el, 2011, Journal of Assisted Reproduction and Genetics.

B8 – DNA METHYLATION ANALYSIS

A. Razin, P. Renbaum, 1995 .

Effect of CpG methylation on gene expression in transfected plant protoplasts.

A. Razin, A. Loyter, Y. Gruenbaum, 1990, Gene.

The CYP17A1 −34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

E. Ziv, D. Easton, G. Chenevix-Trench, 2011, Breast Cancer Research and Treatment.

PGD for germline mosaicism.

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2012, Reproductive biomedicine online.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

T. Walsh, M. King, Ming K. Lee, 2016, Neurology.

Preimplantation Genetic Diagnosis for Fetal Neonatal Alloimmune Thrombocytopenia Due to Antihuman Platelet Antigen Maternal Antibodies

T. Geva, E. Levy-Lahad, S. Grisaru-Granovsky, 2012, Obstetrics and gynecology.

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line

R. Eiges, E. Levy-Lahad, E. Margalioth, 2011, Prenatal diagnosis.

PGD for fragile X syndrome: ovarian function is the main determinant of success.

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2010, Human reproduction.

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2009, Human reproduction.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

D. Bercovich, Dvir Dahary, S. Gulsuner, 2015, Journal of Medical Genetics.

Identification of BRCA1/BRCA2 carriers by screening in the healthy population and its implications.

M. King, A. Lahad, B. Kaufman, 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2

M. King, Ming K. Lee, Jessica B. Mandell, 2014, Proceedings of the National Academy of Sciences.

Female sex bias in human embryonic stem cell lines.

R. Eiges, I. Eldar, A. Ben-Yehudah, 2012, Stem cells and development.

A dual role for interleukin-1 in hippocampal-dependent memory processes

I. Goshen, T. Ben-Hur, T. Kreisel, 2007, Psychoneuroendocrinology.

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

D. Behar, R. Segel, E. Levy-Lahad, 2020, Endocrine.

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Ayal B. Gussow, L. Carmel, E. Levy-Lahad, 2011, American journal of human genetics.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

E. Levy-Lahad, D. Zangen, A. Samson, 2015, The Journal of clinical investigation.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

L. Carmel, E. Levy-Lahad, D. Zangen, 2015, Journal of Medical Genetics.

Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis.

Judy H. Cho, A. Paterson, C. Lees, 2011, Gastroenterology.

Testicular differentiation factor SF-1 is required for human spleen development.

C. Flück, N. Camats, E. Levy-Lahad, 2014, The Journal of clinical investigation.

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Kenneth Offit, Tom Walsh, T. Walsh, 2005, Human molecular genetics.

The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism

D. Lev, O. Reiner, P. Lazo, 2015, The Journal of Neuroscience.

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

M. King, D. Geiger, R. Segel, 2009, American journal of human genetics.

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.

Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue.

I. Goshen, E. Levy-Lahad, R. Yirmiya, 2009, Gene.

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells.

Moran Gal, M. Ehrengruber, E. Levy-Lahad, 2003, Gene.

Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways

E. Levy-Lahad, P. Renbaum, Hadar Vinograd-Byk, 2018, Scientific Reports.

Isolation and characterization of the full-length 3′ untranslated region of the human von Hippel-Lindau tumor suppressor gene

F. Duh, M. Lerman, B. Zbar, 1996, Human Genetics.

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

C. Hammerman, E. Levy-Lahad, P. Renbaum, 2000, The Lancet.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53

Tom Walsh, Mohammad Salahat, T. Walsh, 2017, International journal of cancer.

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

R. Eiges, E. Levy-Lahad, H. Mor-Shaked, 2014, Stem cell reports.

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

R. Eiges, E. Levy-Lahad, E. Margalioth, 2012, Molecular biology international.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

D. Zeevi, A. Rolfs, E. Levy-Lahad, 2015, The Journal of clinical investigation.

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

D. Zeevi, A. Lahad, D. Ginsberg, 2015, PloS one.

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle

P. Lazo, E. Levy-Lahad, P. Renbaum, 2015, Scientific Reports.

Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease

D. Turner, A. Karban, E. Koifman, 2015, Journal of pediatric gastroenterology and nutrition.

Thiopurine S-methyltransferase (TPMT) Activity Is Better Determined by Biochemical Assay Versus Genotyping in the Jewish Population

R. Segel, D. Turner, Devorah Soiferman, 2014, Digestive Diseases and Sciences.

Cloning, characterization, and expression in Escherichia coli of the gene coding for the CpG DNA methylase from Spiroplasma sp. strain MQ1(M.SssI).

A. Razin, A. Fainsod, G. Wilson, 1990, Nucleic acids research.

Mode of action of the Spiroplasma CpG methylase M.SssI

A. Razin, P. Renbaum, 1992, FEBS letters.

Footprint analysis of M.Sssl and M.Hhal methyltransferases reveals extensive interactions with the substrate DNA backbone.

A. Razin, P. Renbaum, 1995, Journal of molecular biology.

Cloning , characterization , and expression in Escherichia coli of the gene coding for the CpG DNA methylase from Spiroplasma sp . strain MQ 1 ( M SssI )

A. Razin, A. Fainsod, G. Wilson, 2003 .

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

R. Eiges, L. Gepstein, R. Birnbaum, 2015, Stem cell reports.

(TA)n UDP-Glucuronosyltransferase 1A1 Promoter Polymorphism in Nigerian Neonates

T. Slusher, C. Hammerman, E. Levy-Lahad, 2008, Pediatric Research.

Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?

E. Picard, S. Carmi, L. Carmel, 2016, Clinical genetics.

p53-dependent control of transactivation of the Pen2 promoter by presenilins

M. Vitek, Huaxi Xu, J. Dunys, 2009, Journal of Cell Science.

Familial haplotyping and embryo analysis for Preimplantation Genetic Diagnosis (PGD) using DNA microarrays: a proof of principle study

D. Zeevi, E. Levy-Lahad, E. Margalioth, 2013, Journal of Assisted Reproduction and Genetics.

(TA)n UGT 1A1 Promoter Polymorphism: A Crucial Factor in the Pathophysiology of Jaundice in G-6-PD Deficient Neonates

D. Stevenson, R. Wong, C. Hammerman, 2007, Pediatric Research.

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.

Y. Li, W. Holzgreve, E. Levy-Lahad, 2009, Reproductive biomedicine online.

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population

Sarah K. Baxter, T. Walsh, M. King, 2022, Journal of Clinical Immunology.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

T. Walsh, M. King, M. Zeviani, 2018, Journal of Medical Genetics.

Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation

D. Zeevi, E. Levy-Lahad, R. Ron-el, 2018, Scientific Reports.

Interaction of M.SssI and M.HhaI with single-base mismatched oligodeoxynucleotide duplexes.

A. Razin, P. Renbaum, 1995, Gene.

Differing Pathogenesis of Perinatal Bilirubinemia in Glucose-6-Phosphate Dehydrogenase-Deficient Versus-Normal Neonates

D. Stevenson, C. Hammerman, E. Levy-Lahad, 2001, Pediatric Research.

PGD on a recombinant allele: crossover between the TSC2 gene and ‘linked’ markers impairs accurate diagnosis

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2008, Prenatal diagnosis.

Array-Comparative-Genomic-Hybridization (Acgh) Based Preimplantation-Genetic-Diagnosis (PGD) for Balanced Translocation Carriers Improves both Diagnostic and Pregnancy Rates Compared to Fluorescent-In-Situ-Hybridization (FISH) and Polymerase-Chain-Reaction (PCR) Based PGD

D. Zeevi, E. Levy-Lahad, E. Margalioth, 2015 .

Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model.

E. Levy-Lahad, E. Margalioth, D. Elstein, 2011, Blood cells, molecules & diseases.

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2009, Journal of Assisted Reproduction and Genetics.

Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2007, Reproductive biomedicine online.

Essential Role of BRCA2 in Ovarian Development and Function

Matt A. King, M. Goldberg, S. Gulsuner, 2018, The New England journal of medicine.

A non‐pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2011, American journal of medical genetics. Part A.

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2010, American journal of medical genetics. Part A.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

T. Walsh, M. King, Ming K. Lee, 2017, Neurology.

Heme Oxygenase-1 Promoter Polymorphisms and Neonatal Jaundice

D. Stevenson, R. Wong, C. Hammerman, 2014, Neonatology.

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia

E. Levy-Lahad, D. Zangen, P. Renbaum, 2020, American journal of medical genetics. Part A.

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

M. Zeviani, F. Santorelli, M. Giacomello, 2023, Frontiers in pharmacology.

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.

A. Lahad, E. Beutler, C. Hammerman, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

D. Zeevi, S. Carmi, D. Backenroth, 2021, Genetics in Medicine.

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

R. Eiges, E. Levy-Lahad, G. Altarescu, 2015, PloS one.

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2007, Prenatal diagnosis.

Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.

E. Levy-Lahad, E. Margalioth, G. Altarescu, 2006, Human reproduction.

Advances in Brief Suppression of Growth of Renal Carcinoma Cells by the von Hippel-Lindau Tumor Suppressor Gene

L. Schmidt, M. Orcutt, Fan Chen, 2006 .

L. Carmel, E. Levy-Lahad, D. Zangen, 2015, Journal of Medical Genetics.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

T. Walsh, M. King, M. Tekin, 2014, The New England journal of medicine.

Discovering predisposing genes for hereditary breast cancer using deep learning

E. Levy-Lahad, F. Zahdeh, R. Beeri, 2024, Briefings in Bioinformatics.

Explorer Single Nucleotide Polymorphisms That Increase Expression of the Guanosine Triphosphatase RAC 1 Are Associated With Ulcerative Colitis

A. Paterson, C. Lees, J. Satsangi, 2011 .