Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

A. Labalme · SciRah

Researcher profile · Semantic Scholar

A. Labalme

Share profile

A. Labalme — researcher profile on SciRah

h-index: 29
Works: 127
Citations: 3,766

Most-cited papers

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
G. Lesca, G. Rudolf, Nadine Bruneau, N. Lozovaya +25 more
2013Nature Genetics424 citations
Semantic Scholar
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Shunmoogum A. Patten, P. Margaritte-Jeannin, J. Bernard, E. Alix +24 more
2015Journal of Clinical Investigation115 citations Open access
Semantic Scholar
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
C. Schluth-Bolard, A. Labalme, M. Cordier, M. Till +9 more
2013Journal of Medical Genetics109 citations
Semantic Scholar
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F. Béna, D. Bruno, Mats A. Eriksson, C. V. van Ravenswaaij-Arts +25 more
2013American Journal of Medical Genetics Part B: Neuropsychiatric Genetics108 citations Open access
Semantic Scholar
Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
S. Dimassi, A. Labalme, D. Ville, A. Calender +17 more
2016Clinical Genetics82 citations
Semantic Scholar
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
S. Dimassi, A. Labalme, G. Lesca, G. Rudolf +14 more
2014Epilepsia79 citations Open access
Semantic Scholar
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K. Harris, Tojo Nakayama, Jenny Lai, Bo-Xun Zhao +77 more
2020Genetics in Medicine76 citations Open access
Semantic Scholar
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
N. Boutry-Kryza, A. Labalme, D. Ville, J. de Bellescize +15 more
2015European Journal of Medical Genetics71 citations
Semantic Scholar
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency
E. Dubruc, A. Putoux, A. Labalme, C. Rougeot +2 more
2014American Journal of Medical Genetics. Part A63 citations
Semantic Scholar
A genome-wide DNA methylation signature for SETD1B-related syndrome
I. Krzyzewska, S. Maas, P. Henneman, K. V. d. Lip +23 more
2019Clinical Epigenetics60 citations Open access
Semantic Scholar
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
L. Pons, M. Cordier, A. Labalme, M. Till +5 more
2015American Journal of Medical Genetics. Part A43 citations
Semantic Scholar
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
G. Rudolf, G. Lesca, M. Mehrjouy, A. Labalme +37 more
2016European Journal of Human Genetics41 citations Open access
Semantic Scholar
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
G. Lesca, M. Moizard, G. Bussy, D. Boggio +10 more
2013American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
Maud Tusseau, E. Lovšin, C. Samaille, R. Pescarmona +24 more
2022Journal of Clinical Immunology38 citations
Semantic Scholar
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy
M. Rossi, N. Chatron, A. Labalme, D. Ville +6 more
2017European Journal of Human Genetics36 citations Open access
Semantic Scholar
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
Mario Nappi, V. Barrese, L. Carotenuto, G. Lesca +12 more
2022Proceedings of the National Academy of Sciences of the United States of America35 citations Open access
Semantic Scholar
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiu-Meng Zhang, Ru-Jia Dai, Bin Yu +54 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, K. Selmer, Clémantine Dimartino, R. Rabionet +96 more
2020Genetics in Medicine31 citations Open access
Semantic Scholar
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
N. Chatron, F. Becker, H. Morsy, M. Schmidts +41 more
2020Brain : a journal of neurology29 citations Open access
Semantic Scholar
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
S. Dimassi, T. Simonet, A. Labalme, N. Boutry-Kryza +16 more
2015Applied and Translational Genomics29 citations Open access
Semantic Scholar
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
N. Chatron, S. Cabet, E. Alix, A. Buénerd +9 more
2019Brain : a journal of neurology28 citations Open access
Semantic Scholar
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
N. Chatron, R. Møller, N. Champaigne, Amy L. Schneider +23 more
2018Annals of Neurology26 citations Open access
Semantic Scholar
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
M. V. Soldovieri, E. Freri, P. Ambrosino, I. Rivolta +15 more
2020Pharmacological Research20 citations Open access
Semantic Scholar
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease
N. Chatron, G. Lesca, A. Labalme, P. Rollat-Farnier +5 more
2017Clinical Genetics20 citations
Semantic Scholar
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
G. Rudolf, J. de Bellescize, A. de Saint Martin, A. Arzimanoglou +12 more
2020European journal of paediatric neurology18 citations Open access
Semantic Scholar
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Pénélope Jordan, G. Dorval, Christelle Arrondel, V. Moriniére +25 more
2022Human Mutation17 citations Open access
Semantic Scholar
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.
L. Pons, G. Lesca, D. Sanlaville, N. Chatron +5 more
2018Epileptic disorders17 citations Open access
Semantic Scholar
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
S. Cabet, G. Lesca, A. Labalme, Vincent Des Portes +3 more
2020European Journal of Medical Genetics16 citations Open access
Semantic Scholar
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
A. Alfaiz, Verena Müller, N. Boutry-Kryza, D. Ville +12 more
2015European Journal of Human Genetics16 citations Open access
Semantic Scholar
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
A. Poisson, N. Chatron, A. Labalme, P. Fourneret +5 more
2020BMC Medical Genetics15 citations Open access
Semantic Scholar
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history
K. Nguyen, Audrey Putoux, T. Busa, M. Cordier +13 more
2015Clinical Genetics15 citations
Semantic Scholar
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
L. Gauthier, N. Chatron, S. Cabet, A. Labalme +6 more
2021European Journal of Medical Genetics14 citations Open access
Semantic Scholar
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing
N. Chatron, C. Schluth-Bolard, M. Fretigny, A. Labalme +6 more
2019Journal of Thrombosis and Haemostasis13 citations Open access
Semantic Scholar
Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.
Inesse Ben-Abdallah-Bouhjar, Soumya Mougou-Zerelli, Hanene Hannachi, Hela ben Khelifa +5 more
2013Gene13 citations
Semantic Scholar
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
Johanna Krüger, Julian Schubert, Josua Kegele, A. Labalme +18 more
2022EBioMedicine12 citations Open access
Semantic Scholar
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.
D. Rocas, E. Alix, J. Michel, M. Cordier +12 more
2013European Journal of Medical Genetics12 citations
Semantic Scholar
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Julie Masson, C. Demily, N. Chatron, A. Labalme +12 more
2019Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
M. Mathieu, J. de Bellescize, M. Till, V. Flurin +8 more
2018European journal of paediatric neurology11 citations
Semantic Scholar
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
L. Ragnarsson, Zihan Zhang, Sooraj S. Das, Poanna Tran +11 more
2023Epilepsia10 citations Open access
Semantic Scholar
Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses
S. Cabet, A. Vasiljevic, A. Putoux, A. Labalme +4 more
2022Prenatal Diagnosis10 citations
Semantic Scholar
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
S. Cabet, A. Putoux, Maryline Carneiro, A. Labalme +3 more
2019European Journal of Medical Genetics10 citations Open access
Semantic Scholar
Systematic analysis of snRNA genes reveals frequent RNU2–2 variants in dominant and recessive developmental and epileptic encephalopathies
E. Leitão, A. Santini, B. Cogné, Myriam Essid +202 more
2025medRxiv9 citations Open access
Semantic Scholar
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
M. Faoucher, A. Poulat, N. Chatron, A. Labalme +8 more
2019Molecular Genetics and Metabolism Reports9 citations Open access
Semantic Scholar
Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
Ilaria Mosca, I. Rivolta, A. Labalme, P. Ambrosino +9 more
2022Frontiers in Pharmacology8 citations Open access
Semantic Scholar
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
L. Arnaud, M. Abi Wardé, G. Barcia, J. de Bellescize +21 more
2022European Journal of Medical Genetics8 citations Open access
Semantic Scholar
Deciphering balanced translocations in infertile males by Next Generation Sequencing to identify candidate genes for spermatogenesis disorders.
T. Yammine, N. Reynaud, H. Lejeune, F. Diguet +7 more
2021Molecular human reproduction8 citations
Semantic Scholar
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS
L. Mazzola, Karen L. Oliver, A. Labalme, B. Baykan +13 more
2020Annals of Neurology8 citations Open access
Semantic Scholar
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
D. Ville, G. Lesca, A. Labalme, V. Portes +2 more
2020Epileptic disorders8 citations Open access
Semantic Scholar
Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration.
A. Poisson, N. Chatron, A. Labalme, M. Till +4 more
2019Biological Psychiatry8 citations Open access
Semantic Scholar
Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients
Inesse B Abdallah-Bouhjar, S. Mougou-Zerelli, Hanene Hannachi, A. Gmidène +5 more
2013Journal of Pediatric Genetics8 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

G. Lesca×39
Invite
G. Lesca — researcher profile on SciRah
D. Sanlaville×34
Invite
D. Sanlaville — researcher profile on SciRah
N. Chatron×19
Invite
N. Chatron — researcher profile on SciRah
P. Edery×16
Invite
P. Edery — researcher profile on SciRah

J. de Bellescize

×12

Invite

J. de Bellescize — researcher profile on SciRah

Invite

D. Ville — researcher profile on SciRah

Invite

M. Till — researcher profile on SciRah

C. Schluth-Bolard×9

Invite

C. Schluth-Bolard — researcher profile on SciRah

Vincent Des Portes×8

Invite

Vincent Des Portes — researcher profile on SciRah

N. Boutry-Kryza×7

Invite

N. Boutry-Kryza — researcher profile on SciRah

Invite

A. Putoux — researcher profile on SciRah

A. Arzimanoglou×6

Invite

A. Arzimanoglou — researcher profile on SciRah