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List of works by Ephrat Levy-Lahad

(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates

scientific article published in January 2008

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

article published in 2007

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

article

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

scientific article published on 20 October 2015

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

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

scientific article published on 22 May 2012

A role for TENM1 mutations in congenital general anosmia

scientific article published on 4 April 2016

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

scientific article published on 01 April 2003

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

scientific article

Abstract P3-08-06: Screening, management, cancer diagnoses, and outcomes of women with germline BRCA mutations in Israel: The Noga Clinic experience

scholarly article by P Mor et al published 14 February 2017 in Cancer Research

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

scientific article published in April 2007

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

scientific article published on 30 May 2014

Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

scientific article published in January 1997

Attitudes of couples identified through screening as carriers of Gaucher disease type 1.

scientific article

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

scientific article published in July 2012

BRCA mutation carriers do not have compromised ovarian reserve

scientific article published in February 2014

BRCA1 germline mutations in women with uterine serous papillary carcinoma

scientific article published on 01 July 2000

Brain calcifications and PCDH12 variants

scientific article published on 26 July 2017

CANCER: Enhanced: A Risky Business--Assessing Breast Cancer Risk

scientific article published in Science

Cancer risks among BRCA1 and BRCA2 mutation carriers

scientific article published on January 2007

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

scientific article

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

scientific article published on 15 February 2018

Collaborative genomics for human health and cooperation in the Mediterranean region

article

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

scientific article published on 12 June 2015

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel

scholarly article by Sari Lieberman et al published 10 August 2011 in American Journal of Medical Genetics

Copy number variations in cryptogenic cerebral palsy

scientific article published on 27 March 2015

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

scientific article

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study

scientific article

Differing pathogenesis of perinatal bilirubinemia in glucose-6-phosphate dehydrogenase-deficient versus-normal neonates.

scientific article published in October 2001

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes

scientific article (publication date: October 1998)

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

scientific article published on October 2003

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

scientific article published on 16 October 2015

Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years.

scientific article published in December 2007

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

scientific article published on 2 May 2016

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells

scientific article

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

scholarly article

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

scientific article published on 06 July 2013

Fanconi anemia and breast cancer susceptibility meet again

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

scientific article published on 24 February 2017

Female sex bias in human embryonic stem cell lines.

scientific article published on 24 June 2011

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

scientific article

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin

scientific article

Gaucher's disease: genetic counselling and population screening.

scientific article published on December 1997

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood

scientific article

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

scientific article

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

scientific article published on October 28, 1997

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

scientific article published in The Lancet

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

scientific article

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up

scientific article published on 27 July 2013

Human Embryo Editing: Opportunities and Importance of Transnational Cooperation

scientific article published in October 2017

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

Incidence of thrombophilia in patients with Gaucher disease

scientific article published on 01 December 2000

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

scientific article

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

scientific article

Medical genetics in Israel's diverse population.

scientific article published on 8 May 2017

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

scientific article published on 14 April 2015

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations.

scientific article published in September 1998

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

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

scientific article published on 28 March 2013

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

scientific article

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

scientific article published on 01 July 1999

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

scientific article

Neonatal outcome after preimplantation genetic diagnosis

scientific article published on 23 July 2014

New ISSCR guidelines underscore major principles for responsible translational stem cell research

scientific article published on December 2008

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

scientific article

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

scientific article published on 16 August 2010

PGD for germline mosaicism

scientific article

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

scientific article

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

scientific article

Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency

scientific article published on 28 August 2008

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

scientific article

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience.

scientific article published in December 2016

Population-based BRCA1/BRCA2 screening in Ashkenazi Jews: A call for evidence

article

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award

scientific article published in September 2014

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

scientific article

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

article

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

scientific article published on 17 October 2019

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

scientific article

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

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

scientific article published on July 2009

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

scientific article published in January 2011

Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies

scientific article

Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay

scientific article published on 19 March 2013

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

scientific article published on 17 July 2015

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.

scientific article published on 23 April 2014

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

scientific article published on 01 January 1998

Preventing Lysosomal Storage Dysorders by Preimplantation Genetic Diagnosis

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

scientific article published on 27 June 2011

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

scientific article published on 26 December 2012

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

scientific article

Proposed Shift in Screening for Breast Cancer—Reply

scientific article published in The Journal of the American Medical Association

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

scientific article published in November 2009

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

scientific article

Recent advances in the genetics of Alzheimer's disease

scientific article published in January 1998

Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent

article

Simultaneous preimplantation genetic diagnosis for Tay–Sachs and Gaucher disease

scientific article published on 01 July 2007

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

scientific article

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

scientific article published on 30 July 2009

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

scientific article

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

scientific article published on 31 July 2015

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

scientific article

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

scientific article published on 08 April 2014

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 June 2015

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

scientific article published on 10 February 2017

Why should primary care physicians know about breast cancer genetics?

scientific article

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

scientific article

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

scientific article

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