| # | Title | Journal | Year | Citations |
|---|
| 1 | Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients | American Journal of Medical Genetics Part A | 2001 | 290 |
| 2 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Nature Genetics | 2010 | 261 |
| 3 | CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia | European Journal of Human Genetics | 2005 | 216 |
| 4 | Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families | Genome Biology | 2011 | 183 |
| 5 | Early onset epileptic encephalopathy caused by de novo SCN8A mutations | Epilepsia | 2014 | 142 |
| 6 | Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion | Human Mutation | 2003 | 121 |
| 7 | Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog | Journal of Medical Genetics | 2012 | 67 |
| 8 | EIF2S3Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO | Human Mutation | 2017 | 57 |
| 9 | Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients | Journal of Child Neurology | 2016 | 51 |
| 10 | Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C | European Journal of Human Genetics | 2016 | 36 |
| 11 | Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features | Brain | 2017 | 33 |
| 12 | Costeff syndrome: clinical features and natural history | Journal of Neurology | 2014 | 26 |
| 13 | Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population | American Journal of Medical Genetics Part A | 2003 | 24 |
| 14 | Establishment of a human T-acute lymphoblastic leukemia cell line with a (16;20) chromosome translocation | Cancer Genetics and Cytogenetics | 1990 | 23 |
| 15 | A novel missense mutation in theNDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms | American Journal of Medical Genetics, Part A | 2007 | 23 |
| 16 | Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region | American Journal of Medical Genetics, Part A | 2012 | 19 |
| 17 | Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 | Clinical Genetics | 2020 | 15 |
| 18 | The rare 13q33–q34 microdeletions: eight new patients and review of the literature | Human Genetics | 2019 | 11 |
| 19 | Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results – Analysis of 269 singleton pregnancies | Early Human Development | 2020 | 10 |
| 20 | Acute Intermittent Porphyria, Rasmussen Encephalitis, or Both? | Journal of Child Neurology | 2007 | 8 |
| 21 | Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome | European Journal of Medical Genetics | 2018 | 8 |
| 22 | Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population | Journal of Genetic Counseling | 2012 | 7 |
| 23 | The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients | Breast Cancer Research and Treatment | 2019 | 7 |
| 24 | Brain white matter abnormalities associated with copy number variants | American Journal of Medical Genetics, Part A | 2020 | 7 |
| 25 | Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival | Neurogenetics | 2020 | 7 |
| 26 | Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants | Breast Cancer Research and Treatment | 2020 | 7 |
| 27 | Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene | Human Genetics | 2022 | 7 |
| 28 | Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency | Journal of Inherited Metabolic Disease | 2002 | 6 |
| 29 | Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder | American Journal of Medical Genetics, Part A | 2022 | 5 |
| 30 | Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant | Human Mutation | 2021 | 3 |
| 31 | Febrile Convulsions, Ataxia, Developmental Delay, and Obesity: A New Syndrome? | Journal of Child Neurology | 2001 | 1 |
