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List of works by William B. Dobyns

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

scientific article (publication date: July 2003)

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

scientific article published on 26 May 2016

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

scientific article

A developmental and genetic classification for malformations of cortical development

scientific article

A developmental and genetic classification for malformations of cortical development: update 2012

scientific article

A developmental and genetic classification for midbrain-hindbrain malformations

scientific article published on December 2009

A developmental classification of malformations of the brainstem

scientific article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A dyadic approach to the delineation of diagnostic entities in clinical genomics

scientific article published on 01 January 2021

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

scientific article

A locus for bilateral perisylvian polymicrogyria maps to Xq28

scientific article published on 29 January 2002

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

scientific article

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

scientific article published on 11 August 2008

A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism

scientific article published on 6 October 2009

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

scientific article published on 5 June 2016

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

scientific article

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

scientific article published on 12 June 2013

ATP6V0A2-Related Cutis Laxa

scientific article published on 12 February 2015

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

scientific article published on 08 February 2008

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine

article

Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome

scientific article

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

scientific article published in July 2010

Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals

article

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

scientific article published on 01 December 2018

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

scientific article

Approach to overgrowth syndromes in the genome era

scientific article published on 02 December 2019

Association and mutation analyses of 16p11.2 autism candidate genes

scientific article

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum

scientific article published on October 2016

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 March 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 November 2019

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

scientific article published on 04 March 2020

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

scientific article

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

scientific article published in November 1995

Autosomal dominant torsion dystonia with onset in infancy

scientific article published on 01 October 1996

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

scientific article

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

scientific article published on 04 June 2018

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

scientific article published in December 2008

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Benign hereditary chorea

article

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis

article

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

scientific article published on 01 October 2019

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

scientific article published on 25 January 2019

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

scientific article published on 16 July 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

scientific article published on May 2003

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

scientific article published on 17 August 2020

Bioinformatics and data-intensive scientific discovery in the beginning of the 21st century

scientific article

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

scientific article

Brain anomalies in encephalocraniocutaneous lipomatosis

article

CDKL5 and ARX mutations in males with early-onset epilepsy

scientific article published on May 2013

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

scientific article published on 30 September 2012

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

scientific article

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

scientific article published on 19 January 2006

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

scientific article published on 11 August 2016

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

scientific article published on 04 September 2020

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

scientific article

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

scientific article

Cerebellar ataxia with progressive improvement

scientific article

Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism

article

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

scientific article

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature

scientific article

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

scientific article

Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians

scientific article (publication date: 3 November 2016)

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

scientific article published on 23 June 2010

Childhood stroke and lupus anticoagulant

scientific article

Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)

scientific article

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly ⬇️

scientific article published on July 1, 2010

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

scientific article published in April 2001

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

scientific article

Clinical manifestations and evaluation of isolated lissencephaly

scientific article published on November 1993

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

scientific article

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

scientific article published on 15 October 2010

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

scientific article published on 22 August 2020

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

scientific article published on 20 August 2008

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies

scientific article published on 13 January 2017

Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

scientific article

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

article

Congenital muscular dystrophies: clinical review and proposed classification

scientific article published on September 1995

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.

scientific article published on October 1996

Consensus Paper: Cerebellar Development.

scientific article published on 6 October 2015

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

scientific article

Copy number and sequence variants implicate APBA2 as an autism candidate gene

scientific article published in December 2009

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

scientific article published on 22 June 2011

Copy number variation analysis in 98 individuals with PHACE syndrome

scientific article published on 25 October 2012

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

article

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

scientific article published on August 2017

Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".

scientific article published on 14 November 2015

Costello syndrome: Clinical phenotype, genotype, and management guidelines

scientific article published on 20 June 2019

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

scientific article published on 08 August 2019

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies.

scientific article published in June 2015

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 01 September 2019

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

scientific article

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

De novo mutations in SIK1 cause a spectrum of developmental epilepsies

scientific article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Deficiency of chromosome 8p21.1----8pter: case report and review of the literature

scientific article

Defining the phenotypical spectrum associated with variants in TUBB2A

scientific article published on 22 June 2020

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

scientific article published on 23 May 2013

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil

scientific article published on 2 December 2016

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

scientific article published on 12 October 2016

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

scientific article

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation

scientific article

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

scientific article

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

scientific article

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

scientific article

Duplication 2p16 is associated with perisylvian polymicrogyria

scientific article published on 29 October 2019

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

scientific article published on 31 July 2017

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

scientific article

Epilepsy and outcome in FOXG1-related disorders

scientific article

Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

scholarly article published in Nature Genetics

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis

article

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome

scientific article published on 23 July 2013

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

scientific article

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

scientific article published in July 2007

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

scientific journal article

Familial cavernous malformations of the central nervous system and retina

article

Familial hydrocephalus with normal cognition and distinctive radiological features

article

Familial pericentric and paracentric inversions of chromosome 1

scientific article published on 01 August 1988

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism

scientific article published on 14 September 2015

Familial remitting chorea, nystagmus, and cataracts

article

Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate

scientific article published on 12 September 2016

Flores hominid: New species or microcephalic dwarf?

scientific article

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

scientific article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

G protein-coupled receptor-dependent development of human frontal cortex

scientific article

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Genetic Basis of Brain Malformations

scientific article

Genetic and biologic classification of infantile spasms

scientific article published on December 2011

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

scientific article published on 7 July 2011

Genetic and neuroradiological heterogeneity of double cortex syndrome

scientific article published in February 2000

Genetic and neuroradiological heterogeneity of double cortex syndrome

article

Genetic links between brain development and brain evolution

scientific article

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations

scientific article published on 01 November 2019

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

scientific article

Genotype-phenotype correlation at codon 1740 of SETD2

scientific article published on 24 July 2020

Genotypically defined lissencephalies show distinct pathologies

scientific article

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

scientific article published on 01 July 2004

Hereditary Hyperekplexia caused by Novel Mutations of GLRA1 in Turkish Families

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

scientific article

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

scientific article published on 01 April 2019

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

scientific article

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

scientific article published in May 2010

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA Polymerase II transcription

scientific article published on 10 April 2018

Human malformations of the midbrain and hindbrain: review and proposed classification scheme

scientific article

Human mutations in integrator complex subunits link transcriptome integrity to brain development

scientific article

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

scientific article

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

scientific article published on 23 November 2015

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

scientific article published in May 2007

Identification of genomic loci contributing to agenesis of the corpus callosum

article

Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain

scientific article published on 05 November 2019

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene

scientific article (publication date: 24 July 2001)

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

scientific article

Infantile hydrocephalus: a review of epidemiology, classification and causes

scientific article

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

scientific article

International consensus recommendations on the diagnostic work-up for malformations of cortical development

scientific article published on 07 September 2020

Interneuron deficits in patients with the Miller-Dieker syndrome

scientific article

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

scientific article

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

scientific article

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

scientific article

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

scientific article

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

scientific article published on 01 August 2001

LIS1: from cortical malformation to essential protein of cellular dynamics

scientific article

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

scientific article published in April 1997

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

scientific article

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis

scientific article

Lissencephaly and the molecular basis of neuronal migration

scientific article (publication date: 2 April 2003)

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

scientific article published on October 2001

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

scientific article

Lissencephaly: Expanded imaging and clinical classification.

scientific article published on 25 April 2017

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

article

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

scientific article published on 05 September 2019

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.

scientific article published in May 2011

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

scientific article

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

scientific article

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

scientific article published on 07 February 2013

MICRO syndrome: an entity distinct from COFS syndrome

scientific article published in July 2004

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Malformations of cortical development and epilepsy

article

Malformations of cortical development and epilepsy

Malformations of cortical development: clinical features and genetic causes

scientific article

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

scientific article

Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020)

scientific article published on 26 November 2020

Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence

scientific article published on March 1992

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case

scientific article published in August 2007

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures

scientific article published in December 2004

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

scientific article

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR

scientific article published on 23 August 2019

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

scientific article

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

scientific article published on 01 March 2004

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

scientific article

Microlissencephaly: A Heterogeneous Malformation of Cortical Development ⬇️

scientific article published on June 1, 1998

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

scientific article published on April 1983

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes

scientific article published in March 2004

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

scientific article

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

scientific article published in September 2010

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome

scientific article

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

scientific article published on 3 December 2015

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

scientific article (publication date: 2001)

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

scientific article

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

scientific article (publication date: November 2002)

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease

scientific article

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

scientific article

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

scientific article

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

scientific article published on 14 June 2017

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

scientific article

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

scientific article

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

scientific article published on 18 October 2016

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.

scientific article published on 3 February 2016

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

scientific article published on 7 January 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

scientific article

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome

scientific article

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

scientific article

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

scientific article

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles

scientific article published on 28 May 2013

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

scientific article

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

scientific article published in May 2004

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

scientific article

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

scientific article

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

scientific article published on 01 August 2001

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

scientific article published in October 2017

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

scientific article published on February 2004

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

scientific article published on September 2008

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

scientific article published on 01 November 2018

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

scientific article

Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

scientific article published on 02 August 2013

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

scientific article published in January 1984

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect

article

New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

scientific article published in January 2004

No major role for theEMX2gene in schizencephaly

article

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

scientific article published in July 2003

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

scientific 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

scientific article

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

scientific article published on 28 March 2008

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

scientific article

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

scientific article published in October 1996

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

scientific article

PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.

scientific article published on 13 June 2018

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

scientific article

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

scientific article

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

scientific article

PRKDC mutations in a SCID patient with profound neurological abnormalities

scientific article published on 3 June 2013

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

scientific article published on 28 February 2020

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

scientific article published on 10 February 2020

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

scientific article

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

scientific article published on 9 May 2006

Periventricular nodular heterotopia with overlying polymicrogyria

scientific article published on December 2005

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis

scientific article

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies

scientific article

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

article

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

scientific article published on 16 January 2017

Phenotypic spectrum associated with CASK loss-of-function mutations

scientific article published on 27 September 2011

Pitfalls of the Morphologic Approach

Plasmapheresis with acute inflammatory polyneuropathy

article

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

scientific article

Polyalanine expansion of ARX associated with cryptogenic West syndrome

scientific article published on 01 July 2003

Polymicrogyria Overview

scientific article published on 16 August 2018

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

scientific article published in November 2006

Polymicrogyria and motor neuropathy in Micro syndrome

scientific article published on August 2000

Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization

scientific article

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

scientific article published in August 2010

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

scientific article published on 14 September 2009

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

scientific article published on July 1995

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

Primary microcephaly: new approaches for an old disorder

scientific article published on November 2002

Progress in autism and related disorders of brain development

scientific article published on 16 April 2015

Progress in autism research and postgenomic studies - Authors' reply

scientific article published on 12 January 2016

RTTN mutations link primary cilia function to organization of the human cerebral cortex

scientific article

Radiologic classification of malformations of cortical development

scientific article

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction

scientific article published in October 1990

Rapid onset dystonia parkinsonism in a 14-year-old girl

scholarly article by D W Webb et al published January 1999 in European Journal of Paediatric Neurology

Rapid-onset dystonia-parkinsonism

scientific article published on 01 December 1993

Rapid-onset dystonia-parkinsonism in a second family.

scholarly article by A Brashear et al published 1997 in Neurology

Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families

scientific article published on 01 January 1998

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

scientific article (publication date: August 1999)

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

scientific article published in February 2009

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

scientific 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.

scientific article published in July 2003

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

scientific article published on 30 June 2015

Recurrent 16p11.2 microdeletions in autism

scientific article

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis

scientific article published on 14 September 2020

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

scientific article published on 19 September 2016

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

scientific 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

scientific article

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

scientific article published in 2022

Reply to Hsueh YP et al

scientific article published on 09 April 2020

Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease

article

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

scientific article published in December 2018

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

scientific article published on 26 March 2012

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

article published in 1999

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

scientific article published on 23 October 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

scientific article published on 24 April 2019

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

scientific article published on 14 September 2014

Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity

scientific article published on 17 April 2015

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis

scientific article published on 01 February 2004

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

article

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

scientific article published on 25 April 2019

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

scientific article

Spatial and single-cell transcriptional landscape of human cerebellar development ⬇️

journal article from 'bioRxiv' published in 2020

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

scientific article

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

scientific article

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

scientific article published on 24 November 2017

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

scientific article (publication date: November 2002)

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

scientific article (publication date: September 1999)

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

scientific article published on 04 September 2019

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

scientific article published in April 2005

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

scientific article

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

scientific article

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

scientific article

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications

article

The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia

article

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

scientific article

The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia

scientific article published in February 2010

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

scientific article

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

scientific article

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

scientific article (publication date: 12 December 2000)

The microcephaly-capillary malformation syndrome

article

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

scientific article published on February 2008

The molecular landscape of ASPM mutations in primary microcephaly

scientific article

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked

scientific article

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked

article

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

scientific article

The spectrum of brain malformations and disruptions in twins

scientific article published on 18 November 2020

The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome

article

Toriello-Carey syndrome: Delineation and review

article

Truncation of NHEJ1 in a patient with polymicrogyria

scientific article

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

scientific article published on 30 April 2018

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences

scientific article published on 16 July 2015

Ultra-high-field MR imaging in polymicrogyria and epilepsy

scientific article

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

scientific article published in June 2010

Unsuccessful physostigmine therapy in Reye syndrome

article

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

scientific article published on 30 May 2016

Valproate-induced liver failure in one of two siblings with Alpers disease

scientific article published on May 1997

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

scientific article published on 15 December 2015

Variable phenotype of rapid-onset dystonia-parkinsonism

scholarly article by A Brashear et al published March 1996 in Movement Disorders

WDR62 is associated with the spindle pole and is mutated in human microcephaly

scientific article

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

scientific article published on 26 December 2017

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

scientific journal article

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.

scientific article published on 8 March 2018

X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome

scientific article published on 16 November 2012

X-linked hereditary hemihypotrophy hemiparesis hemiathetosis

article

X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".

scientific article published on April 2005

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