| 1 | Angelman syndrome: review of clinical and molecular aspects (10.2147/tacg.s57386) | Abstract References ORCID | 173.70 | 206 |
| 2 | An update of clinical management of acute intermittent porph… (10.2147/tacg.s48605) | Abstract References ORCID | 165.10 | 158 |
| 3 | Wiskott–Aldrich syndrome: diagnosis, current manag… (10.2147/tacg.s58444) | Abstract References ORCID | 157.79 | 126 |
| 4 | Alagille syndrome: clinical perspectives (10.2147/tacg.s86420) | Abstract References ORCID | 157.27 | 124 |
| 5 | Genetics of tuberous sclerosis complex: implications for cli… (10.2147/tacg.s90262) | Abstract References ORCID | 155.39 | 117 |
| 6 | Perspectives on the revised Ghent criteria for the diagnosis… (10.2147/tacg.s60472) | Abstract References ORCID | 154.55 | 114 |
| 7 | The genetics of uveal melanoma: current insights (10.2147/tacg.s69210) | Abstract References ORCID | 153.69 | 111 |
| 8 | Genetics of bipolar disorder (10.2147/tacg.s39297) | Abstract References ORCID | 148.67 | 95 |
| 9 | Optimal management of complications associated with achondro… (10.2147/tacg.s51485) | Abstract References ORCID | 147.98 | 93 |
| 10 | Sanfilippo syndrome: causes, consequences, and treatments (10.2147/tacg.s57672) | Abstract References ORCID | 146.93 | 90 |
| 11 | Mevalonate kinase deficiency: current perspectives (10.2147/tacg.s93933) | Abstract References ORCID | 146.57 | 89 |
| 12 | The genetic basis of ankylosing spondylitis: new insights in… (10.2147/tacg.s37325) | Abstract References ORCID | 145.09 | 85 |
| 13 | Marfan syndrome: current perspectives (10.2147/tacg.s96233) | Abstract References ORCID | 143.14 | 80 |
| 14 | Progressive osseous heteroplasia: diagnosis, treatment, and… (10.2147/tacg.s51064) | Abstract References ORCID | 142.73 | 79 |
| 15 | Moyamoya disease and syndromes: from genetics to clinical ma… (10.2147/tacg.s42772) | Abstract References ORCID | 141.06 | 75 |
| 16 | Disease-modifying genes and monogenic disorders: experience… (10.2147/tacg.s18675) | Abstract References ORCID | 139.30 | 71 |
| 17 | Update on the clinical management of Wilson's diseas… (10.2147/tacg.s79121) | Abstract References ORCID | 138.84 | 70 |
| 18 | Clinical utility of nitisinone for the treatment of heredita… (10.2147/tacg.s113310) | Abstract References ORCID | 137.44 | 67 |
| 19 | Genetic basis of Cowden syndrome and its implications for cl… (10.2147/tacg.s41947) | Abstract References ORCID | 136.47 | 65 |
| 20 | 22q11 deletion syndrome: current perspective (10.2147/tacg.s82105) | Abstract References ORCID | 136.47 | 65 |
| 21 | The genetic basis of Lynch syndrome and its implications for… (10.2147/tacg.s51483) | Abstract References ORCID | 135.46 | 63 |
| 22 | Hypothesis of the neuroendocrine cortisol pathway gene role… (10.2147/tacg.s39993) | Abstract References ORCID | 134.43 | 61 |
| 23 | <p>Alkaptonuria: Current Perspectives</p> (10.2147/tacg.s186773) | Abstract References ORCID | 133.90 | 60 |
| 24 | Genetic basis of Parkinson's disease: inheritance, penetranc… (10.2147/tacg.s11639) | Abstract References ORCID | 131.69 | 56 |
| 25 | 1p36 deletion syndrome: an update (10.2147/tacg.s65698) | Abstract References ORCID | 128.70 | 51 |
| 26 | <p>The Importance of Small Non-Coding RNAs in Human Re… (10.2147/tacg.s207491) | Abstract References ORCID | 125.41 | 46 |
| 27 | <p>Genetic Basis of Polycystic Ovary Syndrome (PCOS):… (10.2147/tacg.s200341) | Abstract References | 124.64 | 310 |
| 28 | <p>Gene Therapy For Beta-Thalassemia: Updated Perspect… (10.2147/tacg.s178546) | Abstract References ORCID | 123.99 | 44 |
| 29 | Natural killer cells and single nucleotide polymorphisms of… (10.2147/tacg.s99405) | Abstract References ORCID | 123.26 | 43 |
| 30 | The genetics of breast cancer: risk factors for disease (10.2147/tacg.s13139) | Abstract References ORCID | 122.51 | 42 |
| 31 | The genetic landscape of X-linked adrenoleukodystrophy: inhe… (10.2147/tacg.s49590) | Abstract References ORCID | 122.51 | 42 |
| 32 | The genetics of M&eacute;ni&egrave;re&rsquo;s di… (10.2147/tacg.s59024) | Abstract References ORCID | 121.74 | 41 |
| 33 | The genetics of Leigh syndrome and its implications for clin… (10.2147/tacg.s46176) | Abstract References ORCID | 120.15 | 39 |
| 34 | The genetic basis of familial adenomatous polyposis and its… (10.2147/tacg.s51484) | Abstract References ORCID | 120.15 | 39 |
| 35 | Non-invasive prenatal testing for fetal chromosome abnormali… (10.2147/tacg.s85361) | Abstract References ORCID | 120.15 | 39 |
| 36 | Pathogenesis of coronary artery disease: focus on genetic ri… (10.2147/tacg.s35301) | Abstract References ORCID | 118.48 | 37 |
| 37 | The genetics of familial hypercholesterolemia and emerging t… (10.2147/tacg.s44315) | Abstract References ORCID | 118.48 | 37 |
| 38 | Maple syrup urine disease: mechanisms and management (10.2147/tacg.s125962) | Abstract References | 118.09 | 229 |
| 39 | PALB2 and breast cancer: ready for clinical translation! (10.2147/tacg.s34116) | Abstract References ORCID | 117.62 | 36 |
| 40 | Animal models of GM2 gangliosidosis: utility and limitations (10.2147/tacg.s85354) | Abstract References ORCID | 117.62 | 36 |
| 41 | Familial amyloidotic polyneuropathy: current and emerging tr… (10.2147/tacg.s19903) | Abstract References ORCID | 116.72 | 35 |
| 42 | Clinical applications of schizophrenia genetics: genetic dia… (10.2147/tacg.s21953) | Abstract References ORCID | 116.72 | 35 |
| 43 | Alpha1-antitrypsin deficiency: a clinical-genetic overview (10.2147/tacg.s10604) | Abstract References ORCID | 115.81 | 34 |
| 44 | Disorders caused by chromosome abnormalities (10.2147/tacg.s8884) | Abstract References ORCID | 115.81 | 34 |
| 45 | Utilization of genetic testing among children with developme… (10.2147/tacg.s103975) | Abstract References ORCID | 114.86 | 33 |
| 46 | Tay-Sachs disease: current perspectives from Australia (10.2147/tacg.s49628) | Abstract References ORCID | 114.86 | 33 |
| 47 | The association between vitamin D receptor gene polymorphism… (10.2147/tacg.s101410) | Abstract References ORCID | 113.89 | 32 |
| 48 | N-acetylglutamate synthase deficiency: an insight into the g… (10.2147/tacg.s12702) | Abstract References ORCID | 112.89 | 31 |
| 49 | Genetic basis of cohesinopathies (10.2147/tacg.s34457) | Abstract References ORCID | 111.85 | 30 |
| 50 | Novel treatment options for lysosomal acid lipase deficiency… (10.2147/tacg.s86760) | Abstract References ORCID | 111.85 | 30 |