S. Shalev

发表

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Robert W. Taylor, H. Mandel, P. Yu-Wai-Man, 2015, Journal of Medical Genetics.

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

S. Ellard, L. de Vries, R. Spiegel, 2011, American journal of medical genetics. Part A.

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.

Hanna Mandel, Eli Sprecher, H. Mandel, 2005, American journal of human genetics.

A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.

M. Khayat, M. Ziv, S. Shalev, 2019, JAMA dermatology.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.

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

T. Walsh, M. King, N. Shomron, 2011, Genome Biology.

Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic

Judith G Hall, S. Shalev, 2004, American journal of medical genetics. Part A.

An association of Hutchinson–Gilford progeria and malignancy

N. Lévy, S. Shalev, A. De Sandre-Giovannoli, 2007, American journal of medical genetics. Part A.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

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.

H. Mandel, R. Spiegel, S. Shalev, 2005, Molecular genetics and metabolism.

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

S. Berkovic, D. Lev, J. Serratosa, 2007, Epilepsia.

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

G. Caridi, F. Lugani, M. Galliano, 2013, European journal of clinical investigation.

H. Mandel, O. Elpeleg, M. Khayat, 2017, American journal of medical genetics. Part A.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy

W. Newman, S. Bhaskar, A. Azem, 2017, American journal of medical genetics. Part A.

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

Ann Saada, A. Shaag, O. Elpeleg, 2016, JIMD reports.

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

T. Walsh, M. King, S. Casadei, 2018, Proceedings of the National Academy of Sciences.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

A. Vanderver, C. Bodemer, B. Gener, 2013, The Lancet Neurology.

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

A. Munnich, S. Shalev, J. Kaplan, 2006, European Journal of Human Genetics.

The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome.

O. Sarig, E. Sprecher, L. Godsel, 2020, The Journal of investigative dermatology.

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

M. Simpson, R. Trembath, E. Maher, 2013, European journal of medical genetics.

Dysmorphology services: a snapshot of current practices and a vision for the future

J. Clayton-Smith, S. Douzgou, S. Kitsiou-Tzeli, 2016, Clinical genetics.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1

S. Shalev, T. Ben‐Yosef, Z. Ben‐Neriah, 2011, Molecular vision.

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

A. Ishida-Yamamoto, D. Geiger, M. Indelman, 2008, American journal of human genetics.

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Y. Crow, D. Mitra, B. Bernardi, 2010, Developmental medicine and child neurology.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

L. Feuk, Ann Saada, S. Zenvirt, 2012, American journal of human genetics.

Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

E. Pras, R. Spiegel, S. Shalev, 2016, Journal of Genetic Counseling.

The clinical spectrum of fetal Niemann–Pick type C

V. Meiner, A. Raas-Rothschild, R. Spiegel, 2009, American journal of medical genetics. Part A.

Autosomal-Recessive Retinitis Pigmentosa

B. J. Klevering, S. Shalev, H. Garzozi, 2010 .

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, American journal of human genetics.

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Marissa A. LeBlanc, C. McMaster, J. Majewski, 2014, JAMA ophthalmology.

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

K. Weiss, V. Meiner, M. Khayat, 2022, Journal of Medical Genetics.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.

Severe infantile male encephalopathy is a result of early post‐zygotic WDR45 somatic mutation

D. Bercovich, A. Shaag, O. Elpeleg, 2016, Clinical genetics.

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

M. Khayat, J. Zlotogora, S. Shalev, 2010, American journal of medical genetics. Part A.

Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10

O. Sarig, E. Sprecher, S. Shalev, 2015, The British journal of dermatology.

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

M. Indelman, J. Uitto, R. Bergman, 2006, The Journal of investigative dermatology.

Alcohol consumption during pregnancy among women in Israel.

G. Chodick, Z. Nachum, A. Shuper, 2011, Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharamcologie clinique.

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

M. Muenke, B. Solomon, S. Shalev, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor

S. Postovsky, M. Khayat, M. Ziv, 2021, Experimental dermatology.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

A. Shaag, O. Elpeleg, R. Spiegel, 2016, neurogenetics.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

H. Mandel, S. Edvardson, A. Shaag, 2009, Annals of neurology.

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

H. Mandel, S. Korman, Ann Saada, 2010, Journal of Medical Genetics.

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

M. Vikkula, E. Shalev, E. Weiner, 2005, Prenatal diagnosis.

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

J. Naggert, R. Spiegel, S. Shalev, 2013, Pediatric Cardiology.

High incidence of deafness from three frequent connexin 26 mutations in an isolated community.

A. Chakravarti, J. Zlotogora, S. Shalev, 2006, Genetic testing.

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

R. Gibbs, E. Boerwinkle, D. Muzny, 2014, Pediatric diabetes.

s ickle cell anemia in n orthern israel: s creening and

D. Filon, S. Shalev, E. Daniel-Spiegel, 2009 .

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier–Gorlin syndrome 3

O. Elpeleg, M. Khayat, S. Shalev, 2015, American journal of medical genetics. Part A.

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

Y. Goldberg, M. Nielsen, S. Shalev, 2021, NPJ genomic medicine.

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

H. Mandel, Ann Saada, A. Shaag, 2009, European Journal of Human Genetics.

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

E. Shalev, S. Shalev, Z. Borochowitz, 1999, American journal of medical genetics.

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

W. Miller, H. Bose, S. Shalev, 2000, The Journal of clinical endocrinology and metabolism.

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Y. Crow, W. Newman, S. Banka, 2011, European Journal of Human Genetics.

Venous thromboembolism, factor V Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient.

S. Shalev, A. Koren, C. Levin, 1999, Pediatric hematology and oncology.

Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population

D. Lev, E. Manor, A. Orr-Urtreger, 2003, American journal of medical genetics. Part A.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

A long-term follow up of premarital counseling in the Israeli Arab population

J. Zlotogora, S. Shalev, 2014, Journal of Community Genetics.

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

Boaz Lev, Joël Zlotogora, R. Carmi, 2009, European Journal of Human Genetics.

Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community

J. Zlotogora, S. Shalev, B. Bisharat, 2006, American journal of medical genetics. Part A.

A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, Journal of child neurology.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Mutations in HPSE2 cause urofacial syndrome.

W. Reardon, B. Gener, R. Kammerer, 2010, American journal of human genetics.

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

R. Veitia, G. Livera, S. Caburet, 2019, EBioMedicine.

Deletion (4)(q33—>qter): A Case Report and Review of the Literature

S. Shalev, E. Tirosh, Z. Borochowitz, 1997, Journal of child neurology.

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

E. Sprecher, R. Spiegel, S. Shalev, 2010, European journal of endocrinology.

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

O. Sarig, N. Shomron, R. Bergman, 2021, Experimental dermatology.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

ARCI7 Revisited and Repositioned.

O. Sarig, E. Sprecher, S. Shalev, 2017, The Journal of investigative dermatology.

Prevention of β Thalassemia in Northern Israel - a Cost-Benefit Analysis

S. Shalev, A. Koren, O. Blondheim, 2014, Mediterranean journal of hematology and infectious diseases.

Mutations in HPSE 2 Identified in UFS Patients Family Ethnicity Nucleotide Change Exons

W. Reardon, B. Gener, W. Newman, 2010 .

An Update on the Cutaneous Manifestations of Darier Disease

M. Khayat, A. Zlotogorski, M. Ziv, 2021, Journal of cutaneous medicine and surgery.

Genetics of hearing loss in the Arab population of Northern Israel

T. Walsh, M. King, G. Ast, 2018, European Journal of Human Genetics.

Expanding the genotypic spectrum of Perrault syndrome

S. Bhaskar, W. Yue, R. Newbury-Ecob, 2017, Clinical genetics.

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene

M. Friez, E. Weiner, S. Shalev, 2006, American journal of medical genetics. Part A.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

H. Mandel, M. Indelman, E. Sprecher, 2014, European journal of medical genetics.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Doron Lancet, Elon Pras, Yair Anikster, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

L. Feuk, Ann Saada, S. Edvardson, 2013, European Journal of Human Genetics.

A syndrome characterized by intra‐uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features

S. Shalev, 2007, American journal of medical genetics. Part A.

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

R. Ofir, O. Birk, T. Harel, 2004, European Journal of Human Genetics.

Sickle cell anemia in northern Israel: screening and prevention.

D. Filon, S. Shalev, A. Koren, 2009, The Israel Medical Association journal : IMAJ.

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

A. Munnich, S. Hanein, R. Carmi, 2008, European Journal of Human Genetics.

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

R. Veitia, S. Caburet, M. Sánchez-Martín, 2020, eLife.

An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes

R. Veitia, S. Caburet, M. Milá, 2020, Clinical genetics.

A non‐sense MCM9 mutation in a familial case of primary ovarian insufficiency

R. Veitia, S. Caburet, M. Fellous, 2016, Clinical genetics.

A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/MIDAP

R. Veitia, S. Caburet, M. Sánchez-Martín, 2020, bioRxiv.

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

R. Spiegel, S. Shalev, Z. Borochowitz, 2012, European journal of medical genetics.

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.

H. L. Wright, Soo-Mi Park, R. O’Keefe, 2022, Brain : a journal of neurology.

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra‐familial phenotypic variability

E. Levanon, M. Khayat, J. Pe’er, 2014, American journal of medical genetics. Part A.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

R. Gershoni-baruch, A. Orr-Urtreger, T. Falik-Zaccai, 2009, Genetics in Medicine.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy

S. Shalev, T. Ben‐Yosef, D. Briscoe, 2012, Molecular vision.

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

A. Ekici, J. Brandstätter, T. Aigner, 2011, American journal of human genetics.

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia

N. Rosenberg, O. Elpeleg, M. Khayat, 2015, Journal of thrombosis and haemostasis : JTH.

Small‐platelet thrombocytopenia in a family with autosomal recessive inheritance pattern

H. Tamary, M. Khayat, S. Shalev, 2013, Pediatric blood & cancer.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

H. Prokisch, S. Sieber, I. Wittig, 2021, Cells.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX With Its Interactors at the Nucleoid and RNA Granule

H. Prokisch, W. Newman, S. Sieber, 2021 .

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

B. Burton, P. Sanchez-Lara, M. Deardorff, 2012, American journal of medical genetics. Part A.

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

S. Blumen, B. Brais, V. Drory, 2013, The Israel Medical Association journal : IMAJ.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

H. Mandel, D. Goldsher, J. Gomori, 2014, European Journal of Human Genetics.

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3

M. Vikkula, R. Spiegel, S. Shalev, 2006, Journal of Human Genetics.

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

R. Ofir, O. Birk, O. Barel, 2008, American journal of human genetics.

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population

M. Khayat, S. Shalev, Y. Tenenbaum‐Rakover, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

O. Sarig, N. Shomron, E. Sprecher, 2016, PLoS Genetics.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

Association of chronic symptomatic neutropenia with the triple A syndrome.

A. Huebner, R. Spiegel, S. Shalev, 2005, Journal of pediatric hematology/oncology.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.

O. Sarig, J. Uitto, E. Sprecher, 2012, American journal of human genetics.

Growth Hormone Receptor Sequence Changes Do Not Play a Role in Determining Height in Children with Idiopathic Short Stature

S. Shalev, Y. Tenenbaum‐Rakover, Y. Hujeirat, 2006, Hormone Research in Paediatrics.

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

I. Perlman, R. Bergman, G. Richard, 2001, Nature Genetics.

Poland anomaly—report of an unusual family

S. Shalev, J. Hall, 2003, American journal of medical genetics. Part A.

Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness

S. Shalev, Yasir Hujirat, 2004, American journal of medical genetics. Part A.

A Novel Missense Mutation in CIAS1 Encoding the Pyrin-Like Protein, Cryopyrin, Causes Familial Cold Autoinflammatory Syndrome in a Family of Ethiopian Origin

M. Indelman, R. Bergman, E. Sprecher, 2007, International Archives of Allergy and Immunology.

Migraine and hypercoagulability, are they related? A clinical study of thrombophilia in children with migraine

M. Kutai, S. Shalev, A. Koren, 2011, British journal of haematology.

Upper limb malformations in chromosome 22q11 deletions.

S. Shalev, Z. Borochowitz, H. Dar, 1996, American journal of medical genetics.

Familial Occurrence of Kienbock’s Disease

G. Rubin, N. Rozen, S. Shalev, 2012 .

Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred.

Y. Nevo, M. Kutai, S. Shalev, 2006, Pediatric neurology.

Expanding the clinical spectrum of SLC29A3 gene defects.

Y. Crow, W. Newman, R. Spiegel, 2010, European journal of medical genetics.

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

M. Khayat, R. Spiegel, S. Shalev, 2016, International journal of rheumatic diseases.

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

F. Erdogan, H. Peters, R. Spiegel, 2009, American journal of medical genetics. Part A.

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

O. Birk, B. Markus, T. Harel, 2016, PLoS genetics.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

W. Newman, S. Bhaskar, A. Fry, 2016, Clinical genetics.

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990–2000

D. Lev, R. Gershoni-baruch, E. Manor, 2005, International journal of biometeorology.

A homozygous TTN gene variant associated with lethal congenital contracture syndrome

O. Elpeleg, M. Khayat, S. Shalev, 2018, American journal of medical genetics. Part A.

SAM syndrome is characterized by extensive phenotypic heterogeneity

O. Sarig, E. Sprecher, G. Lestringant, 2018, Experimental dermatology.

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

K. Avraham, M. Khayat, S. Shalev, 2020, bioRxiv.

Thrombophilia: a risk factor for cerebral palsy?

M. Kutai, S. Shalev, A. Koren, 2005, The Israel Medical Association journal : IMAJ.

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies

E. Manor, Y. Yaron, S. Shalev, 2009, Prenatal diagnosis.

Prenatal diagnosis of extrahepatic biliary duct atresia

S. Shalev, F. Muller, I. Shajrawi, 2002, Prenatal diagnosis.

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A. Munnich, S. Hanein, J. Zlotogora, 2002, Ophthalmic genetics.

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

M. Khayat, R. Spiegel, S. Shalev, 2013, Gene.

A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family

A. Chakravarti, M. Khayat, S. Shalev, 2016, American journal of medical genetics. Part A.

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

S. Shalev, T. Ben‐Yosef, Liron Dvir, 2010, American journal of human genetics.

Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel

S. Shalev, 2019, Clinical genetics.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

E. Bertini, R. Carrozzo, A. Kessel, 2019, Journal of inherited metabolic disease.

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

J. Zlotogora, S. Shalev, 2010, American journal of medical genetics. Part A.

Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period

J. Zlotogora, S. Shalev, 2014, Human Heredity.

Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period

J. Zlotogora, S. Shalev, 2014, Human Heredity.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

D. Sharon, F. Cremers, Y. Rotenstreich, 2023, Molecular vision.

Thrombophilia and stillbirth: possible connection by intrauterine growth restriction

E. Shalev, S. Shalev, Z. Weiner, 2004, BJOG : an international journal of obstetrics and gynaecology.

Thrombophilia in Infancy: Factor V Leiden and MTHFR or Factor II Double Heterozygocity as a Risk Factor

M. Kutai, S. Shalev, B. Brenner, 2003, Pediatric hematology and oncology.

Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy

O. Sarig, E. Sprecher, N. Adir, 2022 .

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

N. Adir, S. Shalev, Z. Borochowitz, 2010, Muscle & nerve.

Legg-Calvé-Perthes disease, protein C deficiency, and β-thalassemia major : Report of two cases

S. Shalev, A. Koren, C. Levin, 2000 .

Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.

S. Shalev, Y. Uziel, W. Sakran, 2013, The Pediatric infectious disease journal.

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndrome

E. Shalev, R. Loewenthal, E. Pras, 2006, Prenatal Diagnosis.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

A. Shaag, O. Elpeleg, R. Spiegel, 2016, neurogenetics.

Another adult with Meier‐Gorlin syndrome ‐ insights into the natural history

S. Shalev, J. Hall, 2003, Clinical dysmorphology.

Genetics of hearing loss in the Arab population of Northern Israel

T. Walsh, M. King, G. Ast, 2018, European Journal of Human Genetics.

Familial Occurrence of KienbockÂ’s Disease

Alej, G. Rubin, N. Rozen, 2011 .

Genetics of hearing loss in the Arab population of Northern Israel

T. Walsh, M. King, G. Ast, 2018, European Journal of Human Genetics.

Legg-Calvé-Perthes disease, protein C deficiency, and beta-thalassemia major: report of two cases.

S. Shalev, A. Koren, C. Levin, 2000, Journal of pediatric orthopedics.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Origin and expansion of four different beta globin mutations in a single Arab village

A. Chakravarti, J. Zlotogora, S. Shalev, 2005, American journal of human biology : the official journal of the Human Biology Council.

[The prevention programs for beta thalassemia in the Jezreel and Eiron valleys: results of fifteen years experience].

D. Filon, S. Shalev, E. Rachmilewitz, 2002, Harefuah.

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

R. Spiegel, S. Shalev, J. Hall, 2005, American journal of medical genetics. Part A.

Long‐term follow‐up of three individuals with Kabuki syndrome

E. Zackai, S. Langlois, L. Clarke, 2004, American journal of medical genetics. Part A.

The Fate of 12 Recessive Mutations in A Single Village

A. Chakravarti, J. Zlotogora, S. Shalev, 2007, Annals of human genetics.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

A long-term follow up of premarital counseling in the Israeli Arab population

J. Zlotogora, S. Shalev, 2014, Journal of Community Genetics.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

L. Feuk, Ann Saada, S. Edvardson, 2013, European Journal of Human Genetics.

Learning disabilities in Darier's disease patients

Z. Breznitz, A. Zlotogorski, M. Ziv, 2014, Journal of the European Academy of Dermatology and Venereology : JEADV.

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects

M. Khayat, A. Zlotogorski, M. Ziv, 2016, The British journal of dermatology.

Bacteriological aspects of Darier’s disease

A. Zlotogorski, M. Ziv, S. Shalev, 2013, Journal of the European Academy of Dermatology and Venereology : JEADV.

Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin

E. Shalev, E. Weiner, S. Shalev, 2003, Prenatal diagnosis.

Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.

A. Baram‐Tsabari, M. Khayat, S. Shalev, 2023, Journal of community genetics.