A. Labalme

发表

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

Alain Calender, Claire Bardel, Nicolas Chatron, 2015, Applied & translational genomics.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

A. Toutain, A. Wilkie, J. Galbany, 2019, Human mutation.

Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

E. Bourel-ponchel, D. Ville, A. Saâd, 2016, Clinical genetics.

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

A. Leutenegger, F. Clerget-Darpoux, R. Touraine, 2011, Science.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

R. Touraine, E. Bourel-ponchel, D. Ville, 2015, European journal of medical genetics.

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

D. Ville, P. Fourneret, A. Poisson, 2020, BMC Medical Genetics.

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

E. Decullier, M. Till, G. Lesca, 2013, European journal of medical genetics.

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

K. Ostrowsky, A. Arzimanoglou, V. des Portes, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

D. Sanlaville, A. Labalme, A. Putoux, 2014, American journal of medical genetics. Part A.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

C. Boileau, P. Arnaud, J. Zech, 2020, Cytogenetic and Genome Research.

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

N. Philip, M. Till, G. Lesca, 2011, American journal of medical genetics. Part A.

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

D. Ville, V. des Portes, J. Lemke, 2017, European Journal of Human Genetics.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

R. Touraine, M. Till, D. Sanlaville, 2010, American journal of medical genetics. Part A.

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy

D. Ville, G. Lesca, A. Labalme, 2022, Proceedings of the National Academy of Sciences of the United States of America.

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

Y. Crow, Emilie Chopin, A. Mathieu, 2022, Journal of Clinical Immunology.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

J. Thevenon, R. Nabbout, D. Ville, 2022, European journal of medical genetics.

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

M. Till, G. Lesca, D. Sanlaville, 2015, American journal of medical genetics. Part A.

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Anne de Saint Martin, N. Burnashev, T. Tsintsadze, 2013, Nature Genetics.

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

R. Touraine, A. Vasiljevic, V. Portes, 2013, European journal of medical genetics.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4‐year‐old girl

R. Touraine, D. Ville, J. Dupont, 2014, American journal of medical genetics. Part A.

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

P. May, R. Krause, B. Steinhoff, 2022, EBioMedicine.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

S. Haas, H. Ropers, V. Kalscheuer, 2013, American journal of medical genetics. Part A.

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

M. Gribaa, A. Saâd, D. Sanlaville, 2012, European journal of medical genetics.

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

V. Lazar, S. Romana, M. Till, 2008, European journal of medical genetics.

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

M. Till, D. Sanlaville, A. Labalme, 2019, Cytogenetic and Genome Research.

A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

P. Joly, D. Sanlaville, A. Labalme, 2010, Haematologica.

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

E. Génin, A. Leutenegger, F. Clerget-Darpoux, 2006, American journal of human genetics.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

A. Verloes, J. Andrieux, A. Aboura, 2010, European journal of medical genetics.

Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

D. Ville, R. Dubois, E. Javouhey, 2012, American journal of medical genetics. Part A.

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

A. Saâd, D. Sanlaville, A. Labalme, 2016, Journal of Pediatric Genetics.

Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.

A. Saâd, D. Sanlaville, A. Labalme, 2013, Gene.

Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

Y. Bertrand, G. Putet, J. Bérard, 2013, American journal of medical genetics. Part A.

Clinical and Molecular Characterization of a Combined 17p13.3 Microdeletion with Partial Monosomy 21q21.3 in a 26-Year-Old Man

A. Saâd, N. Mama, D. Sanlaville, 2011, Cytogenetic and Genome Research.

Array‐CGH study of partial trisomy 9p without mental retardation

A. Saâd, D. Sanlaville, A. Labalme, 2011, American journal of medical genetics. Part A.

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

R. Touraine, V. des Portes, L. Thibault, 2017, Molecular Syndromology.

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.

P. Gaucherand, M. Massoud, M. Till, 2017, Journal of gynecology obstetrics and human reproduction.

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

B. Castellotti, C. Gellera, I. Rivolta, 2022, Frontiers in Pharmacology.

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.

B. Castellotti, C. Gellera, I. Rivolta, 2020, Pharmacological research.

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

A. Vasiljevic, G. Lesca, N. Chatron, 2019, Brain : a journal of neurology.

A genome-wide DNA methylation signature for SETD1B-related syndrome

Hyung-Goo Kim, N. Matsumoto, A. Essen, 2019, Clinical Epigenetics.

Statistical method to compare massive parallel sequencing pipelines

N. Leblay, S. Dimassi, A. Campan-Fournier, 2017, BMC Bioinformatics.

Deciphering balanced translocations in infertile males by Next Generation Sequencing to identify candidate genes for spermatogenesis disorders.

E. Chouery, C. Farra, D. Sanlaville, 2021, Molecular human reproduction.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical Genetics.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability

J. Andrieux, G. Lesca, O. Boute, 2013, American journal of medical genetics. Part A.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

S. Julia, N. Philip, M. Till, 2015, Clinical genetics.

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A

C. Vinciguerra, D. Sanlaville, A. Labalme, 2021, Haemophilia : the official journal of the World Federation of Hemophilia.

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

M. Till, G. Lesca, N. Boutry‐Kryza, 2013, Journal of Medical Genetics.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2

P. Ryvlin, A. Arzimanoglou, E. Hirsch, 2014, Epilepsia.

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

S. Romana, M. Till, D. Sanlaville, 2008, European journal of medical genetics.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

Edouard Hirsch, Damien Sanlaville, Alexis Arzimanoglou, 2012, Epilepsia.

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

G. Lathrop, P. Dessen, V. Lazar, 2010, PloS one.

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

M. Till, N. Boutry‐Kryza, C. Turleau, 2012, American journal of medical genetics. Part A.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

S. Dréano, D. Gilot, S. Mazaud-Guittot, 2023, Genes.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions

A. Afenjar, P. Jouk, J. Andrieux, 2017, American journal of medical genetics. Part A.

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

V. Portes, G. Lesca, D. Sanlaville, 2020, European journal of medical genetics.

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

I. Poirot, G. Lesca, N. Chatron, 2021, European journal of medical genetics.

Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

A. Saâd, D. Sanlaville, A. Labalme, 2013, Journal of Pediatric Genetics.

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7

V. des Portes, S. Gazzo, E. Callet‐Bauchu, 2015, Cytogenetic and Genome Research.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

G. Borsani, L. Mazzola, S. Berkovic, 2020, Annals of neurology.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

G. Lesca, D. Sanlaville, A. Labalme, 2019, European journal of medical genetics.

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

G. Lesca, I. Sabatier, D. Sanlaville, 2020, European journal of medical genetics.

DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling

Emilie Chopin, A. Mathieu, A. Belot, 2021 .

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

A. Boland, P. Nitschké, J. Deleuze, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

V. Portes, M. Till, G. Lesca, 2019, Molecular Genetics and Metabolism Reports.

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

N. Guex, A. Reymond, I. Xenarios, 2015, European Journal of Human Genetics.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

R. Touraine, A. Verloes, B. Gilbert-Dussardier, 2019, Orphanet Journal of Rare Diseases.

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

S. Saunier, C. Bénéteau, C. Jeanpierre, 2022, Human mutation.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

M. Till, G. Lesca, D. Sanlaville, 2019, Molecular genetics & genomic medicine.