| 1 | American Journal of Medical Genetics Part A | 59 | 2.3K | 2 | 5 |
| 2 | Lancet, The | 4 | 1.2K | 2610 | 6188 |
| 3 | American Journal of Medicine | 2 | 1.0K | 1220 | 82 |
| 4 | American Journal of Medical Genetics, Part A | 29 | 868 | 29 | 45 |
| 5 | Journal of Pediatrics | 16 | 795 | 89 | 210 |
| 6 | Medicine (United States) | 2 | 383 | 3245 | 190 |
| 7 | New England Journal of Medicine | 3 | 356 | 2393 | 15745 |
| 8 | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 14 | 307 | 3 | 41 |
| 9 | Journal of Pediatric Orthopaedics | 6 | 306 | 105 | 75 |
| 10 | Journal of Pediatric Orthopaedics Part B | 1 | 285 | 204 | 3 |
| 11 | European Journal of Medical Genetics | 1 | 254 | 957 | 39 |
| 12 | Birth Defects Research Part A: Clinical and Molecular Teratology | 2 | 236 | 156 | 63 |
| 13 | Pediatrics | 2 | 207 | 2070 | 2856 |
| 14 | Clinical Genetics | 12 | 197 | 9 | 39 |
| 15 | Pediatric Clinics of North America | 4 | 159 | 6 | 54 |
| 16 | American Journal of Obstetrics and Gynecology | 1 | 137 | 3700 | 2182 |
| 17 | Human Genetics | 3 | 125 | 563 | 1280 |
| 18 | Current Opinion in Genetics and Development | 2 | 118 | 115 | 711 |
| 19 | Clinical Orthopaedics and Related Research | 2 | 85 | 871 | 1334 |
| 20 | Prenatal Diagnosis | 2 | 81 | 727 | 539 |
| 21 | Cmaj | 1 | 71 | 1357 | 1463 |
| 22 | Journal of the Neurological Sciences | 1 | 59 | 3714 | 2754 |
| 23 | Molecular Genetics & Genomic Medicine | 2 | 50 | 272 | 379 |
| 24 | Cancer | 1 | 40 | 6860 | 11291 |
| 24 | JAMA Pediatrics | 6 | 40 | 19 | 1101 |
| 26 | Nature Genetics | 1 | 38 | 10520 | 27144 |
| 26 | Clinical Dysmorphology | 4 | 38 | 24 | 60 |
| 28 | Teratology | 3 | 36 | 33 | 127 |
| 29 | Mental Retardation and Developmental Disabilities Research Reviews | 1 | 32 | 42 | 166 |
| 30 | Pediatric Research | 2 | 28 | 1359 | 4798 |
| 31 | Journal of Craniofacial Surgery | 1 | 21 | 1905 | 1645 |
| 32 | Development (Cambridge) | 1 | 19 | 4630 | 11448 |
| 33 | South African Medical Journal | 1 | 18 | 306 | 345 |
| 34 | American Heart Journal | 1 | 15 | 2918 | 6419 |
| 35 | Paediatrics and Child Health | 4 | 11 | 92 | 504 |
| 36 | Results and Problems in Cell Differentiation | 1 | 7 | 25 | 458 |
| 37 | Gene | 1 | 6 | 4942 | 17636 |
| 37 | JAMA Pediatrics | 1 | 6 | 1287 | 4677 |
| 39 | Birth Defects Research | 1 | 5 | 369 | 1115 |
| 40 | Pediatric Radiology | 2 | 4 | 677 | 3234 |
| 40 | Annual Review of Genomics and Human Genetics | 1 | 4 | 38 | 642 |
| 42 | Twin Research and Human Genetics | 1 | 3 | 626 | 1543 |
| 43 | American Journal of Human Genetics | 2 | 2 | 2679 | 12723 |
| 44 | JAMA - Journal of the American Medical Association | 2 | 1 | 2508 | 17702 |
| 44 | Neurology | 1 | 1 | 8474 | 20464 |
| 44 | Nature Medicine | 1 | 1 | 5966 | 26821 |
| 47 | Genetics in Medicine | 1 | 0 | 2845 | 8555 |
| 47 | Handbook of Clinical Neurophysiology | 1 | 0 | 11 | 78 |
