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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

Developmental medicine and child neurology, 2019-12, Vol.61 (12), p.1439-1447

2019

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New human-specific brain landmark: The depth asymmetry of superior temporal sulcus

Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (4), p.1208-1213

2015

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EEG profiles during general anesthesia in children: A comparative study between sevoflurane and propofol

Pediatric anesthesia, 2019-03, Vol.29 (3), p.250-257

2019

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STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Epilepsia (Copenhagen), 2011-10, Vol.52 (10), p.1820-1827

2011

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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Cell reports (Cambridge), 2012-12, Vol.2 (6), p.1554-1562

2012

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Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex

Epilepsia (Copenhagen), 2016-04, Vol.57 (4), p.648-659

2016

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Clinical genetics, 2022-03, Vol.101 (3), p.307-316

2022

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Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)

Prenatal diagnosis, 2012-03, Vol.32 (3), p.277-283

2012

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Clinical presentation and outcome of 20 fetuses with parvovirus B19 infection complicated by severe anemia and/or fetal hydrops

Prenatal diagnosis, 2014-11, Vol.34 (11), p.1023-1030

2014

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Open fetal surgery for myelomeningocele repair in France

Journal of gynecology obstetrics and human reproduction, 2021-11, Vol.50 (9), p.102155-102155, Article 102155

2021

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Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series

Prenatal diagnosis, 2015-04, Vol.35 (4), p.337-341

2015

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Agenesis of the corpus callosum and the establishment of handedness

Developmental psychobiology, 2006-09, Vol.48 (6), p.472-481

2006

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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Journal of investigative dermatology, 2020-05, Vol.140 (5), p.1106-1110.e2

2020

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Epileptogenic Effect of Sevoflurane: Determination of the Minimal Alveolar Concentration of Sevoflurane Associated with Major Epileptoid Signs in Children

Anesthesiology (Philadelphia), 2012-12, Vol.117 (6), p.1253-1261

2012

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Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis

Brain Structure and Function, 2018-07, Vol.223 (6), p.2893-2905

2018

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Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Fetal diagnosis and therapy, 2014-01, Vol.35 (4), p.229-239

2014

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Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst

Pediatric radiology, 2023-03, Vol.53 (3), p.461-469

2023

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Nature genetics, 2017-04, Vol.49 (4), p.511-514

2017

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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Genetics in medicine, 2020-11, Vol.22 (11), p.1887-1891

2020

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Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case

Human molecular genetics, 2009-06, Vol.18 (12), p.2266-2276

2009

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Human genetics, 2017-04, Vol.136 (4), p.463-479

2017

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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

New human-specific brain landmark: The depth asymmetry of superior temporal sulcus

EEG profiles during general anesthesia in children: A comparative study between sevoflurane and propofol

STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)

Clinical presentation and outcome of 20 fetuses with parvovirus B19 infection complicated by severe anemia and/or fetal hydrops

Open fetal surgery for myelomeningocele repair in France

Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series

Agenesis of the corpus callosum and the establishment of handedness

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Epileptogenic Effect of Sevoflurane: Determination of the Minimal Alveolar Concentration of Sevoflurane Associated with Major Epileptoid Signs in Children

Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

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