| 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 | 50 | 2018 |
| Primary coenzyme Q deficiency due to novel ADCK3 variants, studies in fibroblasts and review of literature A Shalata, M Edery, C Habib, J Genizi, M Mahroum, L Khalaily, N Assaf, ... Neurochemical Research 44, 2372-2384, 2019 | 19 | 2019 |
| Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome P Kalailingam, KQ Wang, XR Toh, TQ Nguyen, M Chandrakanthan, ... The Journal of clinical investigation 130 (8), 4081-4093, 2020 | 14 | 2020 |
| Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome-A case report and review of the literature R Halloun, C Habib, N Ekhilevitch, R Weiss, D Tiosano, M Cohen European Journal of Medical Genetics 64 (8), 104252, 2021 | 6 | 2021 |
| The effects of rudeness on NICU medical teams studied by a new tool for the assessment of decision-making group dynamics Y Riskin, A Riskin, H Zaitoon, C Habib, E Blanche, A Gover, A Mintz Children 9 (10), 1436, 2022 | 3 | 2022 |
| PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis R Sharkia, S Jain, M Mahajnah, C Habib, A Azem, W Al-Shareef, A Zalan Genes 14 (5), 1031, 2023 | 2 | 2023 |
| Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia S Daas, N Abu Salah, Y Anikster, O Barel, NS Damseh, E Dumin, ... Journal of Inherited Metabolic Disease 46 (2), 232-242, 2023 | 2 | 2023 |
| The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative … A Riskin, Y Bravdo, C Habib, I Maor, J Mousa, S Shahbarat, E Shahak, ... Children 10 (7), 1172, 2023 | 1 | 2023 |
| Rapid exome sequencing for children with severe acute encephalopathy–A case series C Habib, T Paperna, R Zaid, S Ravid, JB Ari, G Tal, K Weiss, ... European Journal of Medical Genetics, 104918, 2024 | | 2024 |
| Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings with an impact on medical management K Weiss, YN Francis, T Hershkovitz, N Ehilevitch, C Habib, S Ravid, G Tal, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 460-461, 2024 | | 2024 |
| Rapid exome sequencing for children with acute cardiomyopathy in the PICU-a case series T Hershkovitz, C Habib, T Paperna, R Zaid, J Ben Ari, G Tal, A Khoury, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 150-150, 2024 | | 2024 |
| Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management YN Francis, T Hershkovitz, N Ekhilevitch, C Habib, S Ravid, G Tal, ... Genetics in Medicine Open 1 (1), 100828, 2023 | | 2023 |
| Umbilical Cord and Neonatal Transthyretin and Their Relationship to Growth and Nutrition in Preterm Infants C Habib, I Maor, I Shoris, S Tsuprun, D Bader, A Riskin Rambam Maimonides Medical Journal 13 (2), 2022 | | 2022 |
