A. Putoux

发表

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

A. Munnich, N. Boddaert, P. Beales, 2012, Journal of Medical Genetics.

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.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

P. Gaucherand, M. Massoud, L. Guibaud, 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

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

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.

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

E. Decullier, J. Zech, S. Dupuis-Girod, 2020, Journal of clinical medicine.

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

B. Durand, D. Baas, T. Attié-Bitach, 2018, Human molecular genetics.

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

M. Nicolino, M. Till, G. Lesca, 2020, European journal of medical genetics.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

A. Leutenegger, S. Mazoyer, R. Padgett, 2020, PloS one.

Deficiency of U4atac snRNA secondarily results in ciliary defects

A. Leutenegger, R. Bordonné, T. Attié-Bitach, 2021, medRxiv.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

A. Arzimanoglou, V. Portes, G. Lesca, 2022, European journal of medical genetics.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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.

The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome

A. Szathmári, C. Mottolese, D. Frappaz, 2019, American journal of medical genetics. Part A.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

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.

R. Touraine, S. Cunat, S. Meunier, 2021, American journal of medical genetics. Part A.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

N. Drouot, J. Mandel, B. Gilbert-Dussardier, 2022, bioRxiv.

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

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

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

N. Guex, A. Reymond, I. Xenarios, 2017, American journal of human genetics.

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

A. Paulussen, A. Leutenegger, A. Toutain, 2019, RNA.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human 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.

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.

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.

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex

A. Leutenegger, S. Mazoyer, R. Bordonné, 2022, Nucleic acids research.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

L. Vissers, R. Pfundt, O. Devinsky, 2021, medRxiv.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature 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 series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

P. Jouk, F. Escande, C. Goizet, 2020, Human mutation.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

M. Gubler, J. Martinovic, T. Attié-Bitach, 2010, Pediatric Nephrology.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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

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

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

M. Till, C. Vinciguerra, N. Chatron, 2022, Clinical genetics.

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

J. Bacchetta, F. Di Rocco, M. Rossi, 2021, Child's Nervous System.

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.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

N. Guex, J. Chrast, A. Reymond, 2020, Journal of Medical Genetics.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

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

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

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.

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses

A. Vasiljevic, G. Lesca, N. Chatron, 2022, Prenatal diagnosis.

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

A. Reymond, G. Lesca, L. Gueneau, 2019, Prenatal diagnosis.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome

R. Hennekam, A. Verloes, S. Mazoyer, 2016, Clinical genetics.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

S. Thobois, F. Bouhour, S. Gerber, 2023, EMBO molecular medicine.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

A. Leutenegger, S. Mazoyer, R. Bordonné, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

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

S. Mazoyer, L. Pasquier, G. Lesca, 2023, European Journal of Medical Genetics.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

C. Malcus, A. Putoux, M. Delous, 2024, Clinical Genetics.