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Malformations of cortical development: clinical features and genetic causes

Lancet neurology, 2014-07, Vol.13 (7), p.710-726

2014

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

JAMA pediatrics, 2017-03, Vol.171 (3), p.288

2017

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A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

Brain (London, England : 1878), 2012-05, Vol.135 (5), p.1348-1369

2012

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.582-590

2019

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The Names of Things: The 2018 Bernard Sachs Lecture

Pediatric neurology, 2021-09, Vol.122, p.41-49

Dobyns, William B.

2021

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Infantile hydrocephalus: A review of epidemiology, classification and causes

European journal of medical genetics, 2014-08, Vol.57 (8), p.359-368

2014

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Genetic Basis of Brain Malformations

Molecular syndromology, 2016-09, Vol.7 (4), p.220-233

2016

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

Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628

2015

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Spatial and cell type transcriptional landscape of human cerebellar development

Nature neuroscience, 2021-08, Vol.24 (8), p.1163-1175

2021

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A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Cell, 2014-09, Vol.159 (1), p.200-214

2014

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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

Science (American Association for the Advancement of Science), 2019-10, Vol.366 (6464), p.454-460

2019

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

Human genetics, 2014-08, Vol.133 (8), p.1023-1039

2014

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Lissencephaly: Expanded imaging and clinical classification

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1473-1488

2017

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

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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

PLoS genetics, 2018-05, Vol.14 (5), p.e1007281-e1007281

2018

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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

Neurology, 2009-09, Vol.73 (11), p.887-897

2009

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Genetic and Biologic Classification of Infantile Spasms

Pediatric neurology, 2011-12, Vol.45 (6), p.355-367

2011

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

American journal of human genetics, 2014-04, Vol.94 (4), p.634-641

2014

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

Trends in neurosciences (Regular ed.), 2008-03, Vol.31 (3), p.154-162

2008

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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

American journal of human genetics, 2013-03, Vol.92 (3), p.468-474

2013

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Lissencephaly: Update on diagnostics and clinical management

European journal of paediatric neurology, 2021-11, Vol.35, p.147-152

2021

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

Epilepsia (Copenhagen), 2010-02, Vol.51 (s1), p.5-9

Dobyns, William B.

2010

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An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.414-422

2018

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

Cell reports (Cambridge), 2016-10, Vol.17 (3), p.735-747

2016

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Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-05, Vol.163C (2), p.122-130

2013

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Malformations of cortical development: clinical features and genetic causes

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

A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

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

The Names of Things: The 2018 Bernard Sachs Lecture

Infantile hydrocephalus: A review of epidemiology, classification and causes

Genetic Basis of Brain Malformations

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

Spatial and cell type transcriptional landscape of human cerebellar development

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

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

Lissencephaly: Expanded imaging and clinical classification

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

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

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

Genetic and Biologic Classification of Infantile Spasms

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

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

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Lissencephaly: Update on diagnostics and clinical management

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

An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome

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

Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

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