S. Valence

发表

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Renzo Guerrini, Patrick Nitschke, Elena Fontana, 2013, Nature Genetics.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

N. Boddaert, J. Chelly, I. Desguerre, 2012, European Journal of Human Genetics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

K. Lachlan, M. Lees, J. Juusola, 2020, American journal of medical genetics. Part A.

Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

D. Rodriguez, P. Bokov, H. Corvol, 2020, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: Genetics.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

K. Heimdal, I. Touitou, D. Rodriguez, 2018, European Journal of Human Genetics.

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

B. Cogné, A. Piton, L. Villard, 2021, Journal of Medical Genetics.

Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome

C. Garel, D. Rodriguez, E. Blondiaux, 2022, Birth defects research.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

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

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

RELN and VLDLR mutations underlie two distinguishable clinico‐radiological phenotypes

C. Garel, A. Toutain, D. Rodriguez, 2016, Clinical genetics.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

H. Mefford, H. Maurey, V. Bouilleret, 2019, Clinical genetics.

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

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

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

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

C., C. Garel, É., 2020, European Journal of Human Genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

K. Heimdal, I. Touitou, D. Rodriguez, 2018, European Journal of Human Genetics.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

N. Boddaert, C. Elie, N. Lebrun, 2014, Brain : a journal of neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

P. Sonigo, A. Benachi, N. Lebrun, 2013, neurogenetics.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

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

C. Garel, E. Blondiaux, H. Ducou le Pointe, 2022, Pediatric Radiology.

Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging

F. Dhombres, C. Garel, A. Gelot, 2018, Pediatric Radiology.

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

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Polyhandicap and aging.

K. Baumstarck, A. Loundou, P. Auquier, 2019, Disability and health journal.

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

C. Garel, D. Rodriguez, E. Blondiaux, 2017, Fetal Diagnosis and Therapy.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

D. Lev, M. Lequin, E. Boltshauser, 2023, American Journal of Neuroradiology.

Spectrum of brain malformations in fetuses with mild tubulinopathy

L. Ben‐Sira, D. Heron, B. Keren, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

C. Garel, A. Benachi, N. Girard, 2023, Prenatal diagnosis.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Area Postrema Syndrome as the Initial Presentation of Alexander Disease

D. Rodriguez, F. Chalard, S. Valence, 2021, Neurology.

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect

M. Stern, A. Afenjar, D. Stoppa-Lyonnet, 2019, Human mutation.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

B. Plecko, L. Bok, P. Mills, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Rare ACTG1 variants in fetal microlissencephaly.

C. Fallet-Bianco, A. Laquérriere, A. Boland, 2015, European journal of medical genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

C. Depienne, E. Sherr, E. Blondiaux, 2023, Journal of medical genetics.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.