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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

American journal of human genetics, 2020-08, Vol.107 (2), p.352-363

2020

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Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

Frontiers in cellular neuroscience, 2023-06, Vol.17, p.1162363-1162363

2023

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Gait Disturbance as the Presenting Symptom in Young Children With Anti-NMDA Receptor Encephalitis

Pediatrics (Evanston), 2016-09, Vol.138 (3)

2016

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Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Neuron (Cambridge, Mass.), 2020-04, Vol.106 (2), p.246-255.e6

2020

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Nature communications, 2020-05, Vol.11 (1), p.2441-2441, Article 2441

2020

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SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment

Pediatric neurology, 2016-11, Vol.64, p.87-91

2016

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Acceleration and plateau: two patterns and outcomes of isolated severe fetal cerebral ventricular dilation

The journal of maternal-fetal & neonatal medicine, 2021-09, Vol.34 (18), p.3014-3020

2021

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P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum

Genetics in Medicine Open, 2024, Vol.2, p.101466, Article 101466

2024

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Clinical whole exome sequencing in child neurology practice

Annals of neurology, 2014-10, Vol.76 (4), p.473-483

2014

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Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient

Frontiers in neurology, 2024-09, Vol.15, p.1466946

2024

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Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome

Journal of child neurology, 2022-04, Vol.37 (5), p.390-396

2022

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain (London, England : 1878), 2022-03, Vol.145 (1), p.208-223

2022

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

Brain (London, England : 1878), 2023-06, Vol.146 (6), p.2285-2297

2023

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Monogenic disorders that mimic the phenotype of Rett syndrome

Neurogenetics, 2018, Vol.19 (1), p.41-47

2018

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Leukodystrophies

Seminars in neurology, 2016-08, Vol.36 (4), p.362-366

Barañano, Kristin W

2016

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Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form

BMJ case reports, 2021-01, Vol.14 (1), p.e236732

2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Human mutation, 2021-04, Vol.42 (4), p.445-459

2021

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Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2767-2776

2015

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Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.77-86

2016

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

American journal of human genetics, 2016-05, Vol.98 (5), p.963-970

2016

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Electroconvulsive Therapy for Catatonia in a Boy With Hydrocephalus and an Arachnoid Cyst

Pediatric neurology, 2010-07, Vol.43 (1), p.73-75

2010

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CNS Malformations in the Newborn

Maternal health, neonatology and perinatology, 2022-01, Vol.8 (1), p.1-1, Article 1

2022

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The ketogenic diet: Uses in epilepsy and other neurologic illnesses

Current treatment options in neurology, 2008-11, Vol.10 (6), p.410-419

2008

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

Gait Disturbance as the Presenting Symptom in Young Children With Anti-NMDA Receptor Encephalitis

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment

Acceleration and plateau: two patterns and outcomes of isolated severe fetal cerebral ventricular dilation

P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum

Clinical whole exome sequencing in child neurology practice

Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

Monogenic disorders that mimic the phenotype of Rett syndrome

Leukodystrophies

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Electroconvulsive Therapy for Catatonia in a Boy With Hydrocephalus and an Arachnoid Cyst

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

CNS Malformations in the Newborn

The ketogenic diet: Uses in epilepsy and other neurologic illnesses

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