| Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ... Cell 140 (1), 74-87, 2010 | 616 | 2010 |
| The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management WH Tan, HN Baris, PE Burrows, CD Robson, AI Alomari, JB Mulliken, ... Journal of medical genetics 44 (9), 594-602, 2007 | 260 | 2007 |
| VarElect: the phenotype-based variation prioritizer of the GeneCards Suite G Stelzer, I Plaschkes, D Oz-Levi, A Alkelai, T Olender, S Zimmerman, ... BMC genomics 17, 195-206, 2016 | 198 | 2016 |
| Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history HN Baris, IJ Cohen, PK Mistry Pediatric endocrinology reviews: PER 12 (0 1), 72, 2014 | 172 | 2014 |
| Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial PK Mistry, E Lukina, HB Turkia, D Amato, H Baris, M Dasouki, M Ghosn, ... Jama 313 (7), 695-706, 2015 | 170 | 2015 |
| Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature WH Tan, FS Eichler, S Hoda, MS Lee, H Baris, CA Hanley, PE Grant, ... Pediatrics 116 (3), 757-766, 2005 | 170 | 2005 |
| Revised recommendations for the management of Gaucher disease in children P Kaplan, H Baris, L De Meirleir, M Di Rocco, A El-Beshlawy, M Huemer, ... European journal of pediatrics 172, 447-458, 2013 | 146 | 2013 |
| WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects K Yokote, S Chanprasert, L Lee, K Eirich, M Takemoto, A Watanabe, ... Human mutation 38 (1), 7-15, 2017 | 105 | 2017 |
| Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with G aucher disease type 1: The phase 3 ENGAGE trial PK Mistry, E Lukina, H Ben Turkia, SP Shankar, H Baris, M Ghosn, ... American journal of hematology 92 (11), 1170-1176, 2017 | 93 | 2017 |
| Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) L Haer-Wigman, H Newman, R Leibu, NM Bax, HN Baris, L Rizel, E Banin, ... Human molecular genetics 24 (13), 3742-3751, 2015 | 66 | 2015 |
| Upper and Lower Gastrointestinal Findings inPTENMutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program Z Levi, HN Baris, I Kedar, Y Niv, A Geller, E Gal, R Gingold, ... Clinical and Translational Gastroenterology 2 (11), e5, 2011 | 59 | 2011 |
| Loss of CD55 in eculizumab-responsive protein-losing enteropathy A Kurolap, O Eshach-Adiv, T Hershkovitz, T Paperna, A Mory, D Oz-Levi, ... New England Journal of Medicine 377 (1), 87-89, 2017 | 52 | 2017 |
| Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction D Tiosano, HN Baris, A Chen, MM Hitzert, M Schueler, F Gulluni, ... PLoS genetics 15 (4), e1008088, 2019 | 50 | 2019 |
| Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency A Chen, D Tiosano, T Guran, HN Baris, Y Bayram, A Mory, ... Human molecular genetics 27 (11), 1913-1926, 2018 | 49 | 2018 |
| Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ... Nature communications 9 (1), 4065, 2018 | 47 | 2018 |
| Features of patients with hereditary mixed polyposis syndrome caused by duplication of GREM1 and implications for screening and surveillance S Lieberman, T Walsh, M Schechter, T Adar, E Goldin, R Beeri, N Sharon, ... Gastroenterology 152 (8), 1876-1880. e1, 2017 | 45 | 2017 |
| Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting HN Baris, WH Tan, VE Kimonis, MB Irons American Journal of Medical Genetics Part A 143 (21), 2523-2533, 2007 | 45 | 2007 |
| Gastrointestinal findings in the largest series of patients with hereditary biallelic mismatch repair deficiency syndrome: report from the International Consortium M Aronson, S Gallinger, Z Cohen, S Cohen, R Dvir, R Elhasid, HN Baris, ... Official journal of the American College of Gastroenterology| ACG 111 (2 …, 2016 | 44 | 2016 |
| A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis HN Baris, A Zlotogorski, G Peretz‐Amit, V Doviner, M Shohat, ... British Journal of Dermatology 159 (6), 1373-1376, 2008 | 44 | 2008 |
| Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome HN Baris, I Kedar, GJ Halpern, T Shohat, N Magal, MD Ludman, M Shohat The Israel Medical Association Journal 9 (12), 847, 2007 | 44 | 2007 |
