Eliezer Shalev
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Israeli gynecologist
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Philosophy
Eliezer Shalev's Degrees
- Doctorate Medicine Tel Aviv University
- PhD Gynecology Tel Aviv University
Why Is Eliezer Shalev Influential?
(Suggest an Edit or Addition)According to Wikipedia, Eliezer Shalev is an Israeli gynecologist and current President of Tel Hai Academic College. He also serves as Chairman of the Israeli Ministry of Health National Council for Gynecology, Neonatology and Genetics.
Eliezer Shalev's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response (2009) (636)
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2007) (358)
- Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis (2004) (347)
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study (2013) (325)
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (2010) (261)
- Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (2005) (246)
- Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families (2011) (195)
- Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin (2001) (181)
- A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. (2005) (177)
- Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. (2008) (167)
- NEK1 mutations cause short-rib polydactyly syndrome type majewski. (2011) (154)
- Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. (2000) (122)
- A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. (2005) (110)
- Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. (2014) (100)
- Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. (2010) (95)
- Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation (2007) (93)
- Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis (2010) (91)
- Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation (2015) (90)
- Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. (2012) (89)
- The clinical spectrum of fetal Niemann–Pick type C (2009) (86)
- Mutations in HPSE2 cause urofacial syndrome. (2010) (85)
- Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. (2008) (73)
- Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. (2010) (71)
- The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases (2012) (71)
- SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis (2009) (70)
- Expanding the genotypic spectrum of Perrault syndrome (2017) (70)
- TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (2010) (68)
- Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (2012) (66)
- A targeted population carrier screening program for severe and frequent genetic diseases in Israel (2009) (65)
- Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy (2013) (64)
- ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size (2016) (63)
- Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. (2006) (60)
- A non‐sense MCM9 mutation in a familial case of primary ovarian insufficiency (2016) (54)
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (2012) (53)
- Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (2015) (52)
- Prevention of β Thalassemia in Northern Israel - a Cost-Benefit Analysis (2014) (52)
- Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia (2015) (50)
- An association of Hutchinson–Gilford progeria and malignancy (2007) (47)
- Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 (2011) (47)
- Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema (2005) (46)
- Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. (2013) (44)
- Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews (2009) (43)
- The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations (2010) (41)
- A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks (2019) (40)
- Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations (2011) (40)
- Expanding the clinical spectrum of SLC29A3 gene defects. (2010) (39)
- Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship (2014) (36)
- Poland anomaly—report of an unusual family (2003) (36)
- Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation (2004) (36)
- Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndrome (2006) (35)
- TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. (2016) (35)
- Autosomal-Recessive Retinitis Pigmentosa (2010) (33)
- KCNK9 imprinting syndrome—further delineation of a possible treatable disorder (2016) (33)
- Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy (2016) (31)
- A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis (2002) (30)
- Cornelia de Lange syndrome in diverse populations (2019) (29)
- Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. (1999) (29)
- A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy (2012) (29)
- Prenatal diagnosis of extrahepatic biliary duct atresia (2002) (29)
- Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population (2003) (28)
- Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 (2018) (28)
- Growth Hormone Receptor Sequence Changes Do Not Play a Role in Determining Height in Children with Idiopathic Short Stature (2006) (28)
- Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder (2014) (28)
- Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis (2016) (27)
- A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family (2016) (27)
- Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3 (2006) (27)
- Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene (2006) (26)
- Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. (2013) (25)
- Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990–2000 (2005) (24)
- Long‐term follow‐up of three individuals with Kabuki syndrome (2004) (24)
- Exploring the genetic basis of 3MC syndrome: Findings in 12 further families (2016) (23)
- Thrombophilia: a risk factor for cerebral palsy? (2005) (23)
- Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. (2013) (22)
- Another adult with Meier‐Gorlin syndrome ‐ insights into the natural history (2003) (22)
- Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community (2006) (22)
- SAM syndrome is characterized by extensive phenotypic heterogeneity (2018) (21)
- DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation (2016) (21)
- A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia (2013) (20)
- ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. (2010) (19)
- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. (2016) (19)
- A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1 (2020) (19)
- Thrombophilia and stillbirth: possible connection by intrauterine growth restriction (2004) (19)
- Genetics of hearing loss in the Arab population of Northern Israel (2018) (19)
- Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene (2010) (18)
- Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. (2014) (18)
- Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra‐familial phenotypic variability (2014) (18)
- Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel (2019) (17)
- A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome. (2017) (17)
- Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin (2003) (17)
- Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation (2007) (17)
- Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy (2006) (17)
- Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature (2010) (16)
- Venous thromboembolism, factor V Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient. (1999) (16)
- Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome (2019) (16)
- Migraine and hypercoagulability, are they related? A clinical study of thrombophilia in children with migraine (2011) (16)
- A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. (2013) (16)
- A homozygous TTN gene variant associated with lethal congenital contracture syndrome (2018) (15)
- [The prevention programs for beta thalassemia in the Jezreel and Eiron valleys: results of fifteen years experience]. (2002) (14)
- Deletion (4)(q33—>qter): A Case Report and Review of the Literature (1997) (14)
- Alcohol consumption during pregnancy among women in Israel. (2011) (14)
- Legg-Calvé-Perthes disease, protein C deficiency, and β-thalassemia major : Report of two cases (2000) (13)
- Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome (2017) (13)
- Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier–Gorlin syndrome 3 (2015) (12)
- Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example (2008) (12)
- The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome. (2020) (12)
- Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1 (2011) (12)
- Origin and expansion of four different beta globin mutations in a single Arab village (2005) (12)
- Sickle cell anemia in northern Israel: screening and prevention. (2009) (11)
- High incidence of deafness from three frequent connexin 26 mutations in an isolated community. (2006) (11)
- High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel (2010) (11)
- Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers (2000) (10)
- Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome (2013) (10)
- A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. (2012) (10)
- A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement. (2019) (10)
- Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome (2017) (9)
- An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes (2020) (9)
- TBCK‐related intellectual disability syndrome: Case study of two patients (2017) (9)
- Severe infantile male encephalopathy is a result of early post‐zygotic WDR45 somatic mutation (2016) (9)
- Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10 (2015) (8)
- Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness (2004) (7)
- Small‐platelet thrombocytopenia in a family with autosomal recessive inheritance pattern (2013) (7)
- Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation (2007) (7)
- Homozygote loss-of-function variants in the human COCH gene underlie hearing loss (2020) (7)
- A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family (2005) (7)
- Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? (2013) (7)
- Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period (2014) (7)
- Association of chronic symptomatic neutropenia with the triple A syndrome. (2005) (7)
- ARCI7 Revisited and Repositioned. (2017) (7)
- Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? (2008) (7)
- Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience (2016) (7)
- Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population (2021) (7)
- Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy (2017) (7)
- MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence (2021) (6)
- Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic (2004) (6)
- A long-term follow up of premarital counseling in the Israeli Arab population (2014) (5)
- Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population (2012) (5)
- A Novel Missense Mutation in CIAS1 Encoding the Pyrin-Like Protein, Cryopyrin, Causes Familial Cold Autoinflammatory Syndrome in a Family of Ethiopian Origin (2007) (5)
- Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies (2009) (5)
- [A comprehensive program for prevention of genetic diseases among Arabs in Israel]. (2003) (5)
- Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel (2009) (5)
- Legg-Calvé-Perthes disease, protein C deficiency, and beta-thalassemia major: report of two cases. (2000) (5)
- Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. (2018) (5)
- Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis (2016) (4)
- Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (2006) (4)
- Thrombophilia in Infancy: Factor V Leiden and MTHFR or Factor II Double Heterozygocity as a Risk Factor (2003) (4)
- Dysmorphology services: a snapshot of current practices and a vision for the future (2016) (4)
- Upper limb malformations in chromosome 22q11 deletions. (1996) (3)
- A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation (2015) (3)
- A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/MIDAP (2020) (3)
- Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA (2021) (2)
- Familial Occurrence of Kienbock’s Disease (2012) (2)
- [A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)]. (2007) (2)
- Growth Abnormalities Resulting in Short Stature in Genetic Syndromes (2014) (2)
- Heterozygous variants in ITGB4 cause autosomal dominant nail dystrophy. (2022) (1)
- The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes (2021) (1)
- An Update on the Cutaneous Manifestations of Darier Disease (2021) (1)
- Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone–Rod Dystrophy: Further Evidence for a High Frequency of ABCA4 Heterozygote Carriers (2006) (1)
- A syndrome characterized by intra‐uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features (2007) (1)
- Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred. (2006) (1)
- A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities (2009) (1)
- A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia (2022) (1)
- Bi-allelic FRA10AC1 variants in a multisystem human syndrome. (2022) (1)
- 777 SAM syndrome is characterized by extensive phenotype heterogeneity (2018) (0)
- 827 Slc25A19 Mutation is a Novel Cause of Neuropathy and Bilateral Striatal Necrosis (2010) (0)
- Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor (2021) (0)
- MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence (2021) (0)
- Chapter-08 Ethical Issues in Genetic Counseling (2010) (0)
- Mutations of a Novel Gene, C2ORF71, Cause Autosomal Recessive Retinitis Pigmentosa (2010) (0)
- A long-term follow up of premarital counseling in the Israeli Arab population (2014) (0)
- Familial Occurrence of KienbockÂ’s Disease (2012) (0)
- [60 years of medical genetics in Israel]. (2010) (0)
- Mutations in HPSE 2 Identified in UFS Patients Family Ethnicity Nucleotide Change Exons (2010) (0)
- C0160 Neonatal thrombosis: Influence of ethnicity on genetic risk factors (2012) (0)
- Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy (2016) (0)
- In Search of the Forgotten Exon of the Human Crumbs Homolog 1 and Its Implication in LCA (2002) (0)
- Genetics of hearing loss in the Arab population of Northern Israel (2018) (0)
- 735 Expanding the phenotypic spectrum of junctional epidermolysis bullosa with respiratory and renal involvement (JEB-RR) (2018) (0)
- Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy (2022) (0)
- 283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population (2018) (0)
- THU0222 The Diagnosis of Familial Mediterranean Fever Following The Initial Presentation of Monoarthritis (2016) (0)
- Demographic and Social Aspects of Consanguinity (2014) (0)
- OP35.07: Isolated idiopathic polyhydramnios: to karyotype or not? (2014) (0)
- Third-trimester unexplained intrauterine fetal death is not associated with thrombophilia (2001) (0)
- Homozygote loss-of-function variants in the human COCH gene underlie hearing loss (2020) (0)
- Author response: A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1 (2020) (0)
- Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX With Its Interactors at the Nucleoid and RNA Granule (2021) (0)
- Contents Vol. 77, 2014 (2014) (0)
- s ickle cell anemia in n orthern israel: s creening and (2009) (0)
- 133 Severe third-trimester pregnancy complications are associated with inherited thrombophilia (2001) (0)
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