Resources & publications
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2022Journal (source)Am J Hum GenetRecessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2023Journal (source)Neuropediatrics
Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Childr...
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2018Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2022Journal (source)AJNR Am J Neuroradiol
Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber S...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2024Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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2024Journal (source)Cereb Cortex
Identifying interindividual variability of social perception and associated b...
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2022Journal (source)Neurosurgery
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Comb...
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2022Journal (source)Brain Commun
Periodic electroencephalographic discharges and epileptic spasms involve cort...
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2023Journal (source)Front Neurosci
Case Report: Zolpidem's paradoxical restorative action: A case report of func...
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2023Journal (source)Eur Radiol
The longitudinal evolution of cerebral blood flow in children with tuberous s...
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2020Journal (source)Epilepsia Open
Complete hemispherotomy leads to lateralized functional organization and lowe...
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2018Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2019Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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2020Journal (source)Cerebellum
Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with S...
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2020Journal (source)J. Inherit. Metab. Dis.
Central nervous system complications in adult cystinosis patients.
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2017Journal (source)Cereb. Cortex
Tuning Eye-Gaze Perception by Transitory STS Inhibition.
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2019Journal (source)Neuro-oncology
Cerebral blood flow changes after radiation therapy identifies pseudoprogress...
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2020Journal (source)Sci Rep
Neural basis of interindividual variability in social perception in typically...
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2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2019Journal (source)Sci Rep
Neural and behavioral signature of human social perception.
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2020Journal (source)Cereb Cortex
Rest Functional Brain Maturation during the First Year of Life.
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2018Journal (source)Hum Mutat
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
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2020Journal (source)Neuroimage Clin
Arterial spin labeling brain MRI study to evaluate the impact of deafness on ...
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2020Journal (source)Mol Autism
Impact of on-site clinical genetics consultations on diagnostic rate in child...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2021Journal (source)J Neurosurg Pediatr
Mortality and functional outcome after pediatric intracerebral hemorrhage: co...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2021Journal (source)Nat Commun
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
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Journal (source)Proc Natl Acad Sci U S A
Alternative pathways for the development of lymphoid structures in humans.
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Journal (source)J Cereb Blood Flow Metab
A CBF decrease in the left supplementary motor areas: New insight into postop...
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2022Journal (source)Brain Commun.
Periodic electroencephalographic discharges and epileptic spasms involve cort...