| From big data to precision medicine T Hulsen, SS Jamuar, AR Moody, JH Karnes, O Varga, S Hedensted, ... Frontiers in medicine 6, 34, 2019 | 474 | 2019 |
| Somatic mutations in cerebral cortical malformations SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ... New England Journal of Medicine 371 (8), 733-743, 2014 | 391 | 2014 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 187 | 2021 |
| Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms AM D’Gama, S Pochareddy, M Li, SS Jamuar, RE Reiff, ATN Lam, ... Neuron 88 (5), 910-917, 2015 | 170 | 2015 |
| Clinical application of next-generation sequencing for Mendelian diseases SS Jamuar, EC Tan Human genomics 9, 1-6, 2015 | 132 | 2015 |
| Down syndrome in diverse populations P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ... American Journal of Medical Genetics Part A 173 (1), 42-53, 2017 | 109 | 2017 |
| Williams–Beuren syndrome in diverse populations P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ... American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018 | 86 | 2018 |
| Biallelic mutations in human DCC cause developmental split-brain syndrome SS Jamuar, K Schmitz-Abe, AM D'Gama, M Drottar, WM Chan, M Peeva, ... Nature genetics 49 (4), 606, 2017 | 81 | 2017 |
| Rates and classification of variants of uncertain significance in hereditary disease genetic testing E Chen, FM Facio, KW Aradhya, S Rojahn, KE Hatchell, S Aguilar, ... JAMA Network Open 6 (10), e2339571-e2339571, 2023 | 74 | 2023 |
| DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome APL Marsh, TJ Edwards, C Galea, HM Cooper, EC Engle, SS Jamuar, ... Human mutation 39 (1), 23-39, 2018 | 71 | 2018 |
| KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis L Gueneau, RJ Fish, HE Shamseldin, N Voisin, FT Mau-Them, ... The American Journal of Human Genetics 102 (1), 116-132, 2018 | 59 | 2018 |
| Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia SS Jamuar, AHM Lai Therapeutic advances in hematology 3 (5), 299-307, 2012 | 54 | 2012 |
| Genomic variants and variations in malformations of cortical development SS Jamuar, CA Walsh Pediatric Clinics 62 (3), 571-585, 2015 | 49 | 2015 |
| Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, ... Nature communications 11 (1), 595, 2020 | 47 | 2020 |
| Amelioration of oxidative stress in red blood cells from patients with β‐thalassemia major and intermedia and E‐β‐thalassemia following administration of a fermented papaya … E Fibach, ES Tan, S Jamuar, I Ng, J Amer, EA Rachmilewitz Phytotherapy Research 24 (9), 1334-1338, 2010 | 45 | 2010 |
| Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients ECP Lim, M Brett, AHM Lai, SP Lee, ES Tan, SS Jamuar, ISL Ng, EC Tan Human genomics 9, 1-11, 2015 | 43 | 2015 |
| Analysis of clinically relevant variants from ancestrally diverse Asian genomes SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin, M Gonzalez-Porta, ... Nature Communications 13 (1), 6694, 2022 | 40 | 2022 |
| Incidentalome from genomic sequencing: a barrier to personalized medicine? SS Jamuar, JL Kuan, M Brett, Z Tiang, WLW Tan, JY Lim, WKM Liew, ... EBioMedicine 5, 211-216, 2016 | 33 | 2016 |
| Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients CJ Pua, N Tham, CWL Chin, R Walsh, CC Khor, CN Toepfer, GG Repetti, ... Circulation: Genomic and Precision Medicine 13 (5), 424-434, 2020 | 31 | 2020 |
| Turner syndrome in diverse populations P Kruszka, YA Addissie, C Tekendo‐Ngongang, KL Jones, SK Savage, ... American Journal of Medical Genetics Part A 182 (2), 303-313, 2020 | 29 | 2020 |
