| P50 | author | Gareth Baynam | Q55739363 |
| P2093 | author name string | Matthew Cook | |
| | Mark Davis | |
| | Hugh Dawkins | |
| | Jack Goldblatt | |
| | Lyn Schofield | |
| | Nigel Laing | |
| | Angela Overkov | |
| | Richard Allcock | |
| | Kym Mina | |
| P2860 | cites work | mTOR Inhibitors in Tuberous Sclerosis Complex. | Q36460639 |
| | The facial evolution: looking backward and moving forward | Q38049128 |
| | Focal brain malformations: seizures, signaling, sequencing | Q43275319 |
| | Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis. | Q44575520 |
| | Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations | Q46053173 |
| | Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases | Q24632768 |
| | A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. | Q27852958 |
| | Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease | Q28259472 |
| | Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders | Q28392162 |
| | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 |
| | Growing roles for the mTOR pathway | Q29616212 |
| | De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly | Q30647055 |
| | Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. | Q34339712 |
| | Coordinate activation of Shh and PI3K signaling in PTEN-deficient glioblastoma: new therapeutic opportunities | Q34374039 |
| | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome | Q34539684 |
| | Ciliopathies: an expanding disease spectrum | Q34626170 |
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | sibling | Q31184 |
| | intellectual disability | Q183560 |
| | disability affecting intellectual abilities | Q3317827 |
| P304 | page(s) | 1659-1667 | |
| P577 | publication date | 2015-04-06 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. | |
| P478 | volume | 167 | |