| scholarly article | Q13442814 |
| P50 | author | Anita Rauch | Q21253643 |
| P2093 | author name string | Gregory M Cooper | |
| Christel Depienne | |||
| Pascal Joset | |||
| Kirsty McWalter | |||
| Rolph Pfundt | |||
| Ingrid M Wentzensen | |||
| Jeremy W Prokop | |||
| Marlies Kempers | |||
| Caroline Nava | |||
| Cyril Mignot | |||
| E Martina Bebin | |||
| Michelle L Thompson | |||
| Susan M Hiatt | |||
| Bregje W van Bon | |||
| Ruxandra Bachmann-Gagescu | |||
| Tuula Rinne | |||
| Louisa Kalsner | |||
| David E Gray | |||
| James M J Lawlor | |||
| P2860 | cites work | The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities - Relations that Translate from Bench to Bedside | Q37192764 |
| Neuronal autophagy and neurodevelopmental disorders | Q37251865 | ||
| Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis | Q38642644 | ||
| Prevalence and architecture of de novo mutations in developmental disorders | Q38991782 | ||
| GeneMatcher: a matching tool for connecting investigators with an interest in the same gene | Q40250282 | ||
| BRSK2 induced by nutrient deprivation promotes Akt activity in pancreatic cancer via downregulation of mTOR activity. | Q41280277 | ||
| Genomic Patterns of De Novo Mutation in Simplex Autism. | Q43828985 | ||
| Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. | Q47125495 | ||
| Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability | Q48133294 | ||
| Molecular modeling in the age of clinical genomics, the enterprise of the next generation. | Q48829395 | ||
| The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly | Q50342128 | ||
| Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics | Q22242378 | ||
| LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1 | Q24310603 | ||
| Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling | Q24536092 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| The contribution of de novo coding mutations to autism spectrum disorder | Q28250812 | ||
| Pten regulates neuronal arborization and social interaction in mice | Q28512488 | ||
| Mammalian SAD kinases are required for neuronal polarization | Q28592313 | ||
| The Matchmaker Exchange: a platform for rare disease gene discovery | Q28610742 | ||
| A framework for the interpretation of de novo mutation in human disease | Q29031873 | ||
| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy | Q30854841 | ||
| Genic intolerance to functional variation and the interpretation of personal genomes | Q31129974 | ||
| Genomic diagnosis for children with intellectual disability and/or developmental delay | Q33737759 | ||
| Docking domains and substrate-specificity determination for MAP kinases | Q34023280 | ||
| Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
| Recurrent de novo mutations implicate novel genes underlying simplex autism risk | Q34449179 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants | Q35567101 | ||
| Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia | Q35753306 | ||
| Structural insight into the mechanism of synergistic autoinhibition of SAD kinases | Q36392594 | ||
| Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. | Q36473412 | ||
| Clinical sequencing: is WGS the better WES? | Q36590835 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | intellectual disability | Q183560 |
| exome | Q417664 | ||
| neurodevelopmental disorder | Q3450985 | ||
| De Novo | Q20828326 | ||
| P304 | page(s) | 701-708 | |
| P577 | publication date | 2019-03-14 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder | |
| P478 | volume | 104 |
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