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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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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.856-863

2012

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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

American journal of human genetics, 2014-01, Vol.94 (1), p.62-72

2014

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Imaging of Horner syndrome in pediatrics: association with neuroblastoma

Pediatric radiology, 2021-02, Vol.51 (2), p.205-215

2021

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Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

Annals of neurology, 2019-07, Vol.86 (1), p.42-54

2019

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

American journal of human genetics, 2016-04, Vol.98 (4), p.772-781

2016

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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

American journal of human genetics, 2012-06, Vol.90 (6), p.1088-1093

2012

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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

American journal of human genetics, 2014-08, Vol.95 (2), p.227-234

2014

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Neuroimaging of pediatric central nervous system cytomegalovirus infection

Radiographics, 2010-11, Vol.30 (7), p.1779-1796

2010

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2011-07, Vol.89 (1), p.176-182

2011

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Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system

Pediatric radiology, 2023-03, Vol.53 (3), p.523-543

2023

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Human molecular genetics, 2015-09, Vol.24 (18), p.5313-5325

2015

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KIAA0586 is Mutated in Joubert Syndrome

Human mutation, 2015-09, Vol.36 (9), p.831-835

2015

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

Brain (London, England : 1878), 2012-05, Vol.135 (Pt 5), p.1370-1386

2012

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Deep medullary vein engorgement and superficial medullary vein engorgement: two patterns of perinatal venous stroke

Pediatric radiology, 2021-05, Vol.51 (5), p.675-685

2021

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The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review

Pediatric radiology, 2018-10, Vol.48 (11), p.1642-1654

2018

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Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging

Prenatal diagnosis, 2018-12, Vol.38 (13), p.1035-1041

2018

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Diffusion tensor imaging of the superior cerebellar peduncle identifies patients with posterior fossa syndrome

Child's nervous system, 2013-11, Vol.29 (11), p.2071-2077

2013

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Prenatal diagnosis of Chudley-McCullough syndrome

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2426-2430

2016

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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Canavan disease – unusual imaging features in a child with mild clinical presentation

Pediatric radiology, 2015-03, Vol.45 (3), p.457-460

2015

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Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation

Pediatric radiology, 2019-12, Vol.49 (13), p.1762-1772

2019

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Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

Neuroradiology, 2016-02, Vol.58 (2), p.179-187

2016

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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1783-1790

2019

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

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Imaging of Horner syndrome in pediatrics: association with neuroblastoma

Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

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

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Neuroimaging of pediatric central nervous system cytomegalovirus infection

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

KIAA0586 is Mutated in Joubert Syndrome

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

Deep medullary vein engorgement and superficial medullary vein engorgement: two patterns of perinatal venous stroke

The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review

Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging

Diffusion tensor imaging of the superior cerebellar peduncle identifies patients with posterior fossa syndrome

Prenatal diagnosis of Chudley-McCullough syndrome

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Canavan disease – unusual imaging features in a child with mild clinical presentation

Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

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