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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Alleles
Concept Amino Acid Sequence
Concept Base Sequence
Concept Genes, Dominant
Concept Genes
Concept Genes, Lethal
Concept Genes, Recessive
Concept Genes, Overlapping
Concept Molecular Sequence Data
Concept Repetitive Sequences, Nucleic Acid
Concept Sequence Homology, Amino Acid
Concept Trinucleotide Repeat Expansion
Concept RNA Splice Sites
Concept Sequence Alignment
Concept Sequence Analysis, DNA
Concept Sequence Deletion
Concept Genes, X-Linked
Concept src Homology Domains
Concept Exome
Concept Oligonucleotide Array Sequence Analysis
Concept Catalytic Domain
Concept High-Throughput Nucleotide Sequencing
Concept Regulatory Elements, Transcriptional
Concept Open Reading Frames
Concept Genome, Human
Concept Sequence Homology
Concept Repetitive Sequences, Amino Acid
Concept Transcriptome
Concept Epistasis, Genetic
Concept Conserved Sequence
Concept Polymorphism, Single Nucleotide
Concept Quantitative Trait Loci
Concept Genetic Loci
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
Academic Article Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Academic Article Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Academic Article Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Academic Article Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Absence makes the search grow longer.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Academic Article Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Academic Article Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article Expanding CEP290 mutational spectrum in ciliopathies.
Academic Article De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
Academic Article COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article G protein-coupled receptor-dependent development of human frontal cortex.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Academic Article Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Academic Article De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
Academic Article Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Academic Article Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Academic Article A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Academic Article Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Concept Whole Genome Sequencing
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant Megalencephaly and segmental brain overgrowth in humans
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Search Criteria
  • Exome
  • sequencing