| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.PCL.2015.03.002 |
| P8608 | Fatcat ID | release_gqxzh3er5zgbrdvhfl6phkxwke |
| P932 | PMC publication ID | 4449454 |
| P698 | PubMed publication ID | 26022163 |
| P2093 | author name string | Christopher A Walsh | |
| Saumya S Jamuar | |||
| P2860 | cites work | Sex-dependent association of common variants of microcephaly genes with brain structure | Q22337196 |
| Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 | ||
| Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture | Q24301645 | ||
| UBE3A/E6-AP mutations cause Angelman syndrome | Q24311799 | ||
| Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria | Q24313546 | ||
| New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish | Q24316006 | ||
| G protein-coupled receptor-dependent development of human frontal cortex | Q24321319 | ||
| Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures | Q24339517 | ||
| Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems | Q24533575 | ||
| Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan | Q24535942 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Q24627067 | ||
| Mutations in PNKP cause microcephaly, seizures and defects in DNA repair | Q24630555 | ||
| A developmental and genetic classification for malformations of cortical development: update 2012 | Q26858999 | ||
| Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex | Q28188407 | ||
| The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects | Q28252346 | ||
| Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein | Q28263735 | ||
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | Q28275978 | ||
| Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects | Q28292823 | ||
| Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations | Q28297242 | ||
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders | Q28392162 | ||
| Somatic mutation, genomic variation, and neurological disease | Q28395313 | ||
| Cell migration from the ganglionic eminences is required for the development of hippocampal GABAergic interneurons | Q28507169 | ||
| Mitotic spindle regulation by Nde1 controls cerebral cortical size | Q28592549 | ||
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
| Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. | Q30573030 | ||
| De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly | Q30647055 | ||
| Cortical dysplastic lesions in children with intractable epilepsy: role of complete resection | Q30891817 | ||
| Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia | Q31814823 | ||
| Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia | Q31814856 | ||
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | Q33391488 | ||
| Neuronal migration disorders | Q33412938 | ||
| Primary microcephaly: do all roads lead to Rome? | Q33629131 | ||
| Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected] | Q34181137 | ||
| Non-epithelial stem cells and cortical interneuron production in the human ganglionic eminences | Q34314170 | ||
| Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia | Q34326750 | ||
| A genomic view of mosaicism and human disease | Q34339935 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Competing waves of oligodendrocytes in the forebrain and postnatal elimination of an embryonic lineage. | Q34481048 | ||
| Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies. | Q34503246 | ||
| Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans | Q34600929 | ||
| The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission | Q34683964 | ||
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. | Q34729925 | ||
| Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain | Q34743417 | ||
| Somatic mutations in cerebral cortical malformations | Q34763259 | ||
| Rapamycin reduces seizure frequency in tuberous sclerosis complex | Q34772454 | ||
| Malformations of cortical development: clinical features and genetic causes | Q35188898 | ||
| Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia | Q35907033 | ||
| New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum | Q36581137 | ||
| Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. | Q36809682 | ||
| Clonal dispersion and evidence for asymmetric cell division in ferret cortex. | Q36867634 | ||
| Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly | Q37156137 | ||
| Genetic causes of microcephaly and lessons for neuronal development | Q37158051 | ||
| Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly | Q37304298 | ||
| Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia | Q37417883 | ||
| A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. | Q37537028 | ||
| Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis | Q37806773 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Diffusion tensor imaging and fiber tractography in brain malformations | Q38071553 | ||
| Molecular logic of neocortical projection neuron specification, development and diversity | Q38150734 | ||
| Pathogenetic mechanisms of focal cortical dysplasia | Q38214869 | ||
| The diverse genetic landscape of neurodevelopmental disorders. | Q38245770 | ||
| Patient mutations in doublecortin define a repeated tubulin-binding domain | Q38309287 | ||
| Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Q38632163 | ||
| Somatic activation of AKT3 causes hemispheric developmental brain malformations | Q41773363 | ||
| A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome | Q41936180 | ||
| Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia | Q41936197 | ||
| Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations | Q41937543 | ||
| Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum | Q41938326 | ||
| Aicardi syndrome | Q45287422 | ||
| Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations | Q46448339 | ||
| Germline mutations in PTEN are present in Bannayan-Zonana syndrome | Q48046915 | ||
| Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. | Q48308938 | ||
| LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity | Q48489735 | ||
| Familial schizencephaly associated with EMX2 mutation. | Q48718670 | ||
| Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain | Q48750931 | ||
| Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome | Q49117962 | ||
| Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. | Q50657268 | ||
| EEG and MEG source analysis of single and averaged interictal spikes reveals intrinsic epileptogenicity in focal cortical dysplasia. | Q51674647 | ||
| High rate of mosaicism in individuals with Cornelia de Lange syndrome. | Q51824304 | ||
| Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. | Q51934356 | ||
| A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. | Q51964380 | ||
| Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. | Q52093171 | ||
| Schizencephaly: heterogeneous etiologies in a population of 4 million California births. | Q52565523 | ||
| Comprehensive EMX2 genotyping of a large schizencephaly case series. | Q55043896 | ||
| No major role for theEMX2gene in schizencephaly | Q56771037 | ||
| Positional cloning moves from perditional to traditional | Q72345845 | ||
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
| Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally | Q81202491 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 571-585 | |
| P577 | publication date | 2015-04-01 | |
| P1433 | published in | Pediatric Clinics of North America | Q7159204 |
| P1476 | title | Genomic variants and variations in malformations of cortical development | |
| P478 | volume | 62 |
| Q52690166 | A New Way to Treat Brain Tumors: Targeting Proteins Coded by Microcephaly Genes?: Brain tumors and microcephaly arise from opposing derangements regulating progenitor growth. Drivers of microcephaly could be attractive brain tumor targets. |
| Q56765656 | Analysis of LINE-1 Retrotransposition in Neural Progenitor Cells and Neurons |
| Q89692531 | Constitutive activity of a G protein-coupled receptor, DRD1, contributes to human cerebral organoid formation |
| Q39263875 | Early lipofuscin accumulation in frontal lobe epilepsy |
| Q42365189 | Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. |
| Q55041281 | Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy. |
| Q52089571 | Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly. |
| Q41055450 | Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia |
| Q37396889 | Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant |
| Q50063427 | Nervous System Malformations |
| Q41920126 | Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations. |
| Q36520499 | Novel genetic tools facilitate the study of cortical neuron migration |
| Q90065966 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development |
| Q42425840 | Temporal Control of Mammalian Cortical Neurogenesis by m(6)A Methylation |
| Q41918179 | WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells |
| Q39039274 | oRGs and mitotic somal translocation - a role in development and disease |
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